| 1992 | 1993 | 1994 | 1995 | 1996 | 1997 | 1998 | 1999 | 2000 | 2001 | 2002 | 2003 |
| 1992 | 1993 | 1994 | 1995 | 1996 | 1997 | 1998 | 1999 | 2000 | 2001 | 2002 | 2003 |
NIH-CEPH collaborative mapping group
: A comprehensive genetic linkage map of the human genome ; Antonarakis SE,
Chakravarti A, McInnis MG, Sharma V, Avramopoulos D, Blaschak J, Litt M, Blouin
JL. Chromosome 21 map. Science 258 : 67-86 and 148-162 , 1992.
Warren AC, McInnis MG, Blaschak J, Petersen MB, Kalaitsidaki M, Chakravarti
A, Antonarakis SE. Dinucleotide repeat (GT)n markers on chromosome 21. Genomics
14 : 818-819, 1992.
Antonarakis SE. Third International Workshop on Human Chromosome 21. Meeting
Report. Genomics 14 : 1126-1132 , 1992.
Chen H, Phillips HA, Callen DF, Kim RY, Wistow GJ, Antonarakis SE. Localization
of the human gene for µ-crystallin to chromosome 16p. Genomics 14 : 1115-1116
, 1992.
Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, Guasconi G, Gervy P, LeGall
I, Soularue P, Grinas L, Bougueleret L, Bellanne-Chantelot C, Lacroix B, Barillot
E, Gesnouin P, Pook S, Vaysseix G, Frelat G, Shmitz A, Sambucy JL, Bosch A,
Estivill X, Weissenbach J, Vignal A, Riethman H, Cox D, Patterson D, Gardiner
K, Hattori M, Sakaki Y, Ichikawa H, Ohki M, Le Paslier D, Heilig R, Antonarakis
SE, Cohen D. A continuum of overlapping clones spanning the entire human chromosome
21q. Nature 359 : 380-386 , 1992.
Rabinowitz VS, Maumenee IH, Lundergan MC, Puffenberger E, Zhu D, Antonarakis
SE, Francomano CA. Molecular genetic analysis in autosomal dominant keratoconus.
Cornea 11 : 302-308 , 1992.
DeLozier-Blanchet CD, Masouyé I, Vollenweider S. Ring chromosome 7, hyperpigmented
skin lesions and malignant melanoma. Am J Med Genet 43:1039-1040. 1992
Kaelin A, DeLozier-Blanchet CD. Syndromes and dysplasias, including metabolic
bone disease. Curr Opin Orthopedics 3:348-353. 1992
Schorderet DF, Dahoun S, Defrance I, Nussle D, Morris MA. Robinow syndrome in
two siblings from consanguineous parents. Eur J Pediatr 151 : 586-589 , 1992
Martin-Du-Pan RC, Dahoun S. Role of male factors in habitual abortion].J Gynecol
Obstet Biol Reprod 21:739-742 , 1992
Dahoun-Hadorn S, Bretton-Chappuis B. De novo inversion-duplication of 2q35-2qter
without growth retardation. Ann Genet 35:55-57 , 1992
DeLozier-Blanchet CD, E Engel. Dysmorphology report: Holoprosencephaly-polydactyly
syndrome: affected brother and sister with a wide spectrum of anomalies. GENET
COUNS 3:57-58, 1992
Avramopoulos D, Chakravarti A, Antonarakis SE. DNA polymorphisms in the 3' untranslated
region of 17 genes on human chromosome 21. Genomics 15 :98-102 , 1993.
Bowcock AM, Gerken SC, Barnes RI, Shiang R, Jabs EW, Warren AC, Antonarakis
SE, Retief AE, Vergnaud G, Leppert M, Lalouel JM, White RL, Cavalli-Sforza LL.
The CEPH consortium linkage map of human chromosome 13. Genomics 16 : 486-496
, 1993.
Migeon BR, McGinniss MJ, Antonarakis SE, Axelman J, Stasiowski BA, Youssoufian
H, Kearns WG, Chung A, Pearson PL, Kazazian HH Jr, Muneer RS. Molecular basis
of severe hemophilia A in a female; Order and orientation of Factor VIII gene
within Xq28. Genomics 16 : 20-25 , 1993.
Chen H, Kalaitsidaki M, Warren AC, Avramopoulos D, Antonarakis SE. A novel zinc
finger cDNA with a polymorphic pentanucleotide repeat (ATTTT)n maps on human
chromosome 19. Genomics 15 : 621-625 , 1993.
McGinniss MJ, Kazazian HH Jr, Hoyer LW, Bi L, Inaba H, Antonarakis SE. Spectrum
of mutations in CRM positive and CRM reduced hemophilia A. Genomics 15 : 392-398
, 1993.
Li SH, McInnis MG, Margolis RL, Antonarakis SE, Ross CA. Novel triplet repeat
containing genes in human brain : cloning, expression and length polymorphisms.
Genomics 16 : 572-579 , 1993.
McGinniss MJ, Rosenberg C, Stetten G, Schinzel AA, Binkert F, Petersen MB, Kearns
WG, Kazazian HH Jr, Pearson PL, Antonarakis SE. Unbalanced translocation, t(18:21),
detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome
and a ring chromosome 21. Am. J. Med. Genet. 46 : 647-651 , 1993.
Van Hul W, Van Camp G, Stuyver L, Delabar J, McInnis MG, Warren AC, Antonarakis
SE, Van Broeckhoven C. A contiguous physical map of the pericentromeric region
of chromosome 21q between D21Z1 and D21S13E. Genomics 15 : 626-630 , 1993.
McInnis MG, Chakravarti A, Blaschak J, Petersen MB, Sharma V, Avramopoulos D,
Blouin JL, Konig U, Brahe C, Cox T, Warren AC, Talbot CC Jr, Van Broeckhoven
C, Litt M, Antonarakis SE. A linkage map of human chromosome 21 : 43 PCR markers
at average interval of 2.5 cM. Genomics 16 : 562-571 , 1993.
Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, Thomas G, Talbot CC Jr .
Maternal uniparental disomy for human chromosome 14 due to loss of a chromosome
14 from somatic cells with translocation (13;14) trisomy 14. Am. J. Hum. Genet.
52 : 1145-1152 , 1993.
Antonarakis SE. Human Chromosome 21 : Genome mapping and exploration circa 1993.
Trends in Genetics 9 : 142-148 , 1993.
Talbot CC, Warren AC, Avramopoulos D, Antonarakis SE. Three polymorphic dinucleotide
repeats at the D3S1417 , D3S1418 and D12S271 loci. Hum. Mol. Genet. 2 : 1325,
1993.
Delabar LM, Creau N, Sinet PM, Ritter O, Antonarakis SE, Burmeister M, Chakravarti
A, Nizetic D, Ohki M, Patterson D, Petersen MB, Reeves RH, Van Broeckhoven C.
Report of the fourth international workshop on human chromosome 21. Genomics
18 : 735-744 , 1993.
Petersen MB, Antonarakis SE, Hassold TJ, Freeman SB, Sherman SL, Avramopoulos
D, Mikkelsen M. Paternal nondisjunction in trisomy 21 : excess of male patients.
Hum. Mol. Genet. 2 : 1691-1695 , 1993.
Cox DR, Antonarakis SE, Shimizu N. Report of the committee on the genetic constitution
of chromosome 21. Genome Priority Reports 1 : 556-573 , 1993.
Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting
the factor VIII gene as a common cause of severe hemophilia A. Nature Genetics
5 : 236-241 , 1993.
DeLozier CD Genetic Counseling. Campana A, ed., Reproductive Health, Ares-Serona
Symposia Publications, Rome. 1993
Neerman-Arbez M, DeLozier-Blanchet CD, Bolle JF, Morris M. High incidence of
ectopic nucleolar organizer regions in human testicular tumors. Cancer Genet
Cytogenet 65:58-63. 1993
Martin PY, DeLozier-Blanchet CD, Favre H. Connaissances actuelles dans le diagnostic
et la pathogénie de la maladie polykystique rénale autosomale dominante (PKD).
Medecine Et Hygiene 51: 432-437. 1993
Vollenweider S, Masouyé I, DeLozier-Blanchet CD, Saurat. Cutaneous findings
in ring chromosome 7 syndrome. Dermatology 186:84-87. 1993
Schorderet D, F Thonney, N Pillet, C DeLozier-Blanchet, P Marguerat, G Pescia.
Analyses moléculaires de 68 sujets de suisse romande a risque pour le syndrome
de l'X fragile. REV MED SUISSE ROM 113:309-311
DeLozier-Blanchet CD. Etude Europeene collective de mosaicisme à la choriocentèse:
Nouvelles initiatives. Genetique Medicale (Bulletin d'information de la Societé
suisse de Génétique médicale) 31:15-18. 1993
Robinson WP, Bernasconi F, Mutirangura A, Ledbetter DH, Langlois S, Malcolm
S, Morris MA, Schinzel AA "Nondisjunction of chromosome 15: origin and recombination."
Am J Hum Genet, 53 740-751, 1993.
Morris MA "Mitochondrial DNA mutations and disease: it's the quantity that counts."
Neuro-Ophthalmology, 13 243-251, 1993.
Morris MA "Prenatal diagnosis of monogenic disorders by DNA analysis: What,
why, who, and how?" Reproductive Health 2 329-338, 1993.
Dahoun-Hadorn S., Willimson C. Chromosome Pathology in Reproductive Health Ares
Serono Symposia Publications. 1993
Vollenweider-Roten S, CD DeLozier-Blanchet, I Masouye, JH Saurat. DERMATOLOGY
186:138-143, 1993
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis
SE, Mikkelsen M. "Compensatory" uniparental disomy of chromosome 21 in two cases.
J. Med. Genet. 31 : 534-540 , 1994.
Zappata S, Petersen MB, Konig U, Blaschak J, Chakravarti A, Tassone F, Serra
A, Antonarakis SE, Brahe C. Highly polymorphic repeat marker within the beta
amyloid precursor protein gene. Hum. Genet. 93 : 85-86 , 1994.
Chen H, Lowther W, Avramopoulos D, Antonarakis SE. Homologous loci DXYS156X
and DXY156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to
human X and Y chromosomes. Hum. Mut. 4 : 208-211, 1994.
De Marchi N, Jackson L, Antonarakis SE. No uniparental disomy for chromosome
3 in Brachmann-de Lange syndrome. Am. J. Med. Genet. 49 : 133-135 , 1994.
Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE. Normal phenotype with
paternal uniparental isodisomy for chromosome 21. Am. J. Hum. Genet. 53 : 1074-1078
, 1993.
Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Antonarakis SE,
Housman D, Kazazian HH, Meyers D, Nestadt G, Ott J, Lamacz M, Liang KY, Hanfelt
J, Ullrich G, DeMarchi N, Ramu E, McHugh PR, Adler L, Thomas M, Carpenter WT,
Manschreck T, Gordon CT, Kimberland M, Baab R, Puck J, Childs B. Sequencial
strategy to identify a susceptibility gene for schizophrenia : report of potential
linkage on chromosome 22 q12-q13.1. Part 1. Am. J. Med. Genet. (Neuropsychiatric
Genetics) 54 : 36-43, 1994.
Pulver AE, Karayiorgou M, Lasseter VK, Wolyniec PS, Kasch L, Antonarakis SE,
Housman D, Kazazian HH, Meyers D, Nestadt G, Ott J, Liang KY, Lamascz M, Thomas
M, Childs B, Diehl SR, Wang S, Murphy B, Sun C, O'Neill, Nie L, Sham P, Burke
J, Duke BW, Duke F, Kipps BR, Bray J, Hunt W, Shinkwin R, Nuallain MN, Su Y,
MacLean CJ, Walsh D, Kendler KS, Gill M, Vallada H, Mant R, Asherson P, Collier
D, Parfitt E, Roberts E, Nanko S, Walsh C, Daniels J, Murray R, McGuffin P,
Owen M, Laurent C, Dumas JB, d'Amato T, Jay M, Martinez M, Campion D, Mallet
J. Follow-up of a report of a potential linkage for schizophrenia on chromosome
22q12-q13.1. Part 2. Am. J. Med. Genet. (Neuropsychiatric Genetics) 54 : 44-50,
1994.
Kaufman RJ, Antonarakis SE. Structure, biology and genetics of Factor VIII.
in Hoffman R, Benz EJ, Shattil SJ, Furie B, Cohen HJ, and Silberstein LE eds.
Hematology ; Basic Principles and Practice. 2nd edition. Churchill Livingston
(ISBN 0-443-08914-0), New York pp 1633-1648, 1994.
Pangalos C, Avramopoulos D, Blouin JL, Raoul O, deBlois MC, Prieur M, Schinzel
AA, Gika M, Abazis D, Antonarakis SE. Understanding the mechanism(s) of mosaic
trisomy 21 using DNA polymorphism analysis. Am. J. Hum. Genet. 54 : 473-481
, 1994.
Blouin JL, Binkert F, Antonarakis SE. Biparental inheritance of chromosome 21
polymorphic markers indicates that some Robertsonian translocations t(21;21)
occur postzygotically. Am. J. Med. Genet. 49 : 363-368 , 1994.
Samec S, Clarkson SG, Blaschak J, Chakravarti A, Morris MA, Scherly D, Antonarakis
SE. Dinucleotide repeat polymorphism within the human DNA repair gene XPG (ERCC5).
Hum. Mol. Genet. 3 : 214, 1994.
Figlewicz DA, McInnis MG, Goto J, Haines JL, Warren AC, Krizus A, Khodr N, Brown
RH, McKenna-Yasek D, Antonarakis SE, Rouleau GAS. Identification of flanking
markers for the familial Amyotrophic Lateral Sclerosis gene ALS1 on chromosome
21. J. Neurolog. Sci. (Suppl S) 124 : 90-95 , 1994.
Antonarakis SE, Patterson D, Van Broeckhoven C, Shimizu N. Report of the committee
on the genetic constitution of chromosome 21. Human Gene Mapping 1993 eds AJ
Cuticchia & PL Pearson, Johns Hopkins Univ Press, Baltimore (ISBN 0-8018-4892-X).
pgs 611-640, 1994.
Hutter P, Antonarakis SE, Delozier-Blanchet CD, Morris MA. Exon skipping associated
with A to G transition at +4 of the IVS33 splice donor site of the Neurofibromatosis
type I (NF1) gene. Hum. Mol. Genet. 3 : 663-665 , 1994.
Karayiorgou M, Kasch L, Lasseter VK, Hwang J, Elango R, Bernardini J, Kimberland
M, Baab R, Francomano CA, Wolyniec PS, Lamacz M, Nestadt G, Meyers D, Ott J,
Childs B, Antonarakis SE, Kazazian HH, Housman D, Pulver AE. Report from the
Maryland epidemiology schizophrenia linkage study: no evidence for linkage between
schizophrenia and a number of candidate and other genomic regions using a complex
dominant model. Am. J. Med. Genet. (Neuropsychiatric Genetics) 54 : 345-353,
1994.
Rossiter JP, Young M, Kimberland M, Hutter P, Ketterling RP, Gitschier J, Horst
J, Morris MA, Schaid DJ, deMoerloose P, Sommer SS, Kazazian HH & Antonarakis
SE. Factor VIII gene inversions causing severe hemophilia A originate almost
exclusively in male germ cells. Hum. Mol. Genet. 7 : 1035-1039 , 1994.
Celi FS, Cohen MM, Antonarakis SE, Wertheimer E, Roth J, Shuldiner AR. Determination
of gene dosage by a quantitative adaptation of the polymerase chain reaction
(gd-PCR) : rapid detection of deletions and duplications of gene sequences.
Genomics 21 : 304-310, 1994.
Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Morrow B, Karayiorgou M, Lamacz
M, Antonarakis SE, Housman D, Wolyniec PS, Kucherlapati R. Psychotic illness
in patients diagnosed with velo-cardio-facial syndrome and their relatives.
J. Nerv. & Ment. Dis. 182 : 476-478 , 1994.
Antonarakis SE, McKusick VA. Nomenclature for designating mutations. Hum. Mut.
4 : 166 , 1994.
McKusick VA with the assistance of Francomano CA, Antonarakis SE & Pearson PL.
"Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders".
11 th edition. The Johns Hopkins University Press (ISBN 0-8018-4933-0); Baltimore
and London, 1994.
Antonarakis SE. Genomic linkage scanning: systematic or intelligent ? Nature
Genetics 8 : 211-212 , 1994.
Tuddenham EGD, Schwaab R, Seehafer J, Millar DS, Gitschier J, Higuchi M, Bidichandani
S, Connor JM, Hoyer LW, Yoshioka A, Peake IR, Olek K, Kazazian HH, Lavergne
JM, Giannelli F, Antonarakis SE, Cooper DN. Haemophilia A: Database of nucleotide
substitutions, deletions, insertions, and rearrangements of the factor VIII
gene - second edition. Nucl. Acids Res. 22 : 3511-3533 , 1994.
Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt B,
Thun-Hohenstein L, Schinzel A. "Angelman syndrome due to paternal uniparental
disomy of chromosome 15: a milder phenotype?" Am J Med Genet 51 35-40, 1994.
CD DeLozier-Blanchet. Discordances cytogénétiques entre foetus et placenta:
étude genevoise 1991-1993. Bulletin de Perinatologie 18 : 9-12. 1994
Beiraghi S, T Foroud, D Bixler, PM Conneally, CD DeLozier-Blanchet, MS Hodes.
Possible localization of a major gene for cleft lip and palate to 4q. CLIN GENET
46:255-256 ,1994.
Raghunath M, B Steinmann, CD DeLozier-Blanchet, P Extermann, A Superti-Furga
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic
villus biopsies. PEDIATR RES 36:441-448 , 1994
Martin-Du Pan RC, Dahoun S, Stalberg A, Campana A. Primary amenorrhea and arterial
hypertension in a case of 17 alpha-hydroxylase deficiency. J Gynecol Obstet
Biol Reprod 23:137-140 , 1994.
Cooper DN, Krawczak M, Antonarakis SE. The nature and mechanisms of human gene
mutation. In Scriver CR, Beaudet AL, Sly WS, Valle D. editors "The Metabolic
and Molecular bases of Inherited Disease" 7th edition. (ISBN 0-07-909826-6)
McGraw-Hill Co. pp 259-291, 1995.
Kazazian HH Jr, Tuddenham EGD , Antonarakis SE. Hemophilia A and parahemophilia:
deficiencies of coagulation factors VIII and V. In Scriver CR, Beaudet AL, Sly
WS, Valle D. editors "The Metabolic and Molecular bases of Inherited Disease"
(ISBN 0-07-909826-6) 7th edition. McGraw-Hill Co. pp 3241-3267, 1995.
Nakashima H, Yi M, Ichikawa N, LeBlond GF, Antonarakis SE, Ts'o POP. A two-dimentional
electrophoresis Southern transfer method for detecting human genome variability
using a LINE1 sequence probe. Analyt. Biochem. 227 : 319-327 , 1995.
Antonarakis SE, Kazazian HH, Gitschier J, Hutter P, de Moerloose P, Morris MA.
Molecular etiology of Factor VIII deficiency in Hemophilia A. in Adelrod LM,
Hoyer LW, Lusher JM, Reisner HM, White GC eds. "Inhibitors to Coagulation Factors"
Adv. Exper. Med. Biol. Plenum press, New York. 386 : 19-34 , 1995.
Margolis RL, Breschel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis MG, Ross
CA. Identification and characterization of cDNA clones from human brain that
contain CCA trinucleotide repeats. Som. Cell Mol. Genet. 21 : 279-284 , 1995.
Lasseter VK, Pulver AE, Wolyniec PS, Nestadt G, Meyers D, Karayorgou M, Housman
D, Antonarakis SE, Kazazian HH, Kasch L, Babb R, Kimberland M, Childs B. Further
analysis of the chromosome 22 linkage in families with schizophrenia. Am. J.
Med. Genet. (Neuropsychiatric Genetics) 60 : 172-173, 1995.
Antonarakis SE, Kazazian HH Jr, Tuddenham EGD. Molecular etiology of factor
VIII deficiency in hemophilia A. Hum. Mut. 5 : 1-22, 1995.
Rogan PK, Close P, Blouin JL, Seip JR, Gannutz L, Ladda RL, Antonarakis SE.
Duplication and loss of chromosome 21 in two children with Down syndrome and
acute leukemia. Am. J. Med. Genet. 59 : 174-181 , 1995.
Lutfalla G, McInnis MG, Antonarakis SE, Uzé G. Structure of the human CRFB4
gene: comparison with its IFNAR neighbour. J. Mol. Evol. 41 : 338-344 , 1995.
Pulver AE, Lasseter VK, Kasch L, Wolyniec P, Nestadt G, Blouin J-L, Kimberland
M, Babb R, Vourlis S, Chen H, Lalioti M, Morris MA, Karayiorgou M, Ott J, Meyers
D, Antonarakis SE, Housman D, Kazazian HH. Schizophrenia: A genome scan targets
chromosomes 3p and 8p as potential sites of susceptibility genes. Am. J. Med.
Genet. (Neuropsychiatric Genetics) 60 : 252-260 , 1995.
Chrast R, Chen HM, Morris MA, Antonarakis SE. Mapping of the human transcription
factor GABPA (E4TF1-60) gene to chromosome 21. Genomics 28 : 119-122 , 1995.
Chen HM, Morris MA, Rossier C, Blouin JL, Antonarakis SE. Cloning of the cDNA
for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping
to chromosome 21. Genomics 28 : 470-476 , 1995.
Chen HM, Chrast R, Rossier C, Gos A, Antonarakis SE ¤, Kudoh J, Yamaki A, Shindoh
N, Meada H, Minoshima S, Shimizu N ¤. The human homologue of the drosophila
SIM (single-minded) gene maps in the Down syndrome critical region. Nature Genetics
10 : 9-10 , 1995. ¤ labs of these authors equally contributed.
Bi L, Lawler AM, Antonarakis SE, High KA, Gearhart JD, Kazazian HH Jr. Targeted
disruption of the mouse factor VIII gene: a model for hemophilia A. Nature Genetics
10 : 119-121 , 1995.
Antonarakis SE, Patterson D, Van Broeckhoven C, Shimizu N, Gardiner K, Delabar
J, Korenberg J, Reeves R. Report of the committee on the genetic constitution
of chromosome 21. Human Gene Mapping 1994 ed AJ Cuticchia , (ISBN 0-8018-5180-7),
Johns Hopkins Univ Press, Baltimore. pp 733-766 , 1995.
Karayiorgou M, Morris MA, Morrow B, Sprintzen R, Goldberg R, Borrow J, Gos A,
Nestadt G, Wolyniec PS, Lasseter VK, Eisen H, Childs B, Kazazian HH, Kucherlapati
R, Antonarakis SE, Pulver AE, Housman DE. Schizophrenia susceptibility associated
with interstitial deletion s of chromosome 22q11. Proc. Natl. Acad. Sci. USA
92 : 7612-7616 , 1995.
Lindsay EA, Morris MA, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, Shprintzen
R, Antonarakis SE, Baldini A, Pulver AE. Schizophrenia and chromosomal deletions
within 22q11.2. Am. J. Hum. Genet. 56 : 1502-1503, 1995.
Palmer CG, Blouin JL, Bull M, Breitfeld P, Vance GH, Van Meter T, Weaver DD,
Heerema NA, Colbern SG, Korenberg J, Antonarakis SE, Chen X. Cytogenetic and
molecular analysis of a ring(21) in a patient with partial trisomy 21 and megakaryocytic
leukemia. Am. J. Med. Genet. 57 : 527-536 , 1995.
Shimizu N, Antonarakis SE, Van Broeckhoven C, Patterson D, Gardiner K, Nizetic
D, Creau N, Delabar J-M, Korenberg J, Reeves R, Doering J, Chakravarti A, Minoshima
S, Ritter O, Cuttichia J. Report on the fifth international workshop on human
chromosome 21 mapping 1994. Cytogenet & Cell Genet 70 : 147-164 , 1995.
Talbot CC Jr, Avramopoulos D, Gerken S, Chakravarti A, Armour JA, Matsunami
N, White R, Antonarakis SE. A tetranucleotide repeat polymorphism (D21S1245)
on human chromosome 21 demonstrates hypermutability in germline and somatic
cells. Hum. Mol. Genet. 4 : 1193-1199 , 1995.
Antonarakis SE. Molecular genetics of coagulation factor VIII gene and hemophilia
A. Thromb & Haemostasis 74 : 322-328 , 1995.
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling
RP, Kazazian HHJr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon
E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin SW, Lin
SR, Shen MC, Lillicrap D, Taylor SAM, Windsor S, Valleix SV, Nafa K, Sultan
Y, Delpech M, Vnencak-Jones CL, Phillips JA III, Ljung RCR, Koumbarelis E, Gialeraki
A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston
FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli
F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto
M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ,
Vermylen J, Mori PG, Acquila M, Caprino D, Inaba H. Factor VIII gene inversions
in severe hemophilia A : Results of an international consortium study. Blood
86 : 2206-2212 , 1995.
Valera S, Talabot F, Evans RJ, Gos A, Antonarakis SE, Morris MA, Buell GN. Characterization
and chromosomal localization of a human P2X receptor from urinary bladder. Recep.
& Chann. 3 : 283-289 , 1995.
Lucente D, Chen HM, Rutter M, Samec SN, Shea D, Chrast R, Rossier C, Buckler
A, Antonarakis SE, McCormick MK. Localization of 102 exons to a 2.7 Mb region
involved in Down syndrome. Hum. Mol. Genet. 4 : 1305-1312 , 1995.
Blouin J-L, Christie DH, Gos A, Lynn A, Morris MA, Ledbetter DH, Chakravarti
A, Antonarakis SE. A new dinucleotide repeat polymorphism at the telomere of
chromosome 21q reveals a significant difference between male and female rates
of recombination. Am. J. Hum. Genet. 57 : 388-394 , 1995.
Chen HM, Antonarakis SE. Localization of a human homolog of the mouse Tiam-1
gene to chromosome 21q22.1. Genomics 30 : 123-127 , 1995.
Antonarakis SE, Blouin JL, Pulver AE, Wolyniec P, Lasseter VK, Nestadt G, Kasch
L, Babb R, Kazazian HH Jr, Dombroski B, Kimberland M, Ott J, Housman D, MacLean
C. Follow-up of potential vulnerability locus for schizophrenia on chromosome
6p24-22. Nature Genetics 11 : 235-236 , 1995.
Pellegrini B, DeLozier-Blanchet CD. L'Etude collaborative européenne de la choriocentèse
(Eucromic) Bull. Perinat Geneve 19:3-5. 1995
Eliez S, DeLozier-Blanchet CD, Colombo S. Test prédictif de la chorée de Huntington:
au confluent de la génétique et de la communication médicale. Medecine Et Hygiene
53:2421-2424. 1995
Delozier-Blanchet CD, Francipane L, Morris MA, Hoovers JMN, Leschot NJ, Cox
J. "Trisomy 3 mosaicism on CVS: case report with literature review and propositions
for investigation and counselling." Clin Genet 48 308-312, 1995.
Hess J, Burkhard P, Morris MA, Lalioti M, Myers P, Hadengue A "Ischaemic colitis
due to mitochondrial cytopathy" Lancet 346 189-190, 1995.
Berry GT, Mallee JJ, Blouin JL, Antonarakis SE. The 21q22.1 STS marker, VN02
(EST00541 cDNA) , is part of the 3' sequence of the human Na+/myo-inositol cotransporter
(SLC5A3) gene. Cytogenet. Cell Genet. 73 : 77-78 , 1996.
Gill M, Vallada H, Collier D, Sham P, Holmans P, Murray R, McGuffin P, Nanko
S, Owen M, Antonarakis SE, Housman D, Kazazian HH, Nestadt G, Pulver AE, Straub
RE, MacLean CJ, Walsh D, Kendler KS, DeLisi L, Polymeropoulos M, Lofthouse R,
Gershon E, Golden L, Crow T, Byerley W, Coon H, Freedman R, Laurent C, Bodeau-Pean
S, d'Amato T, Jay M, Campion D, Mallet J, Wildenauer D, Lerer B, Albus M, Ackenheil
M, Ebstein RP, Hallmayer J, Maier W, Gurling H, Curtis D, Kalsi G, Brynjolfsson
J, Sigmundson T, Petursson H, Blackwood D, Muir W, StClair D, He L, Maguire
S, Moises H, Hwu HG, Yang L, Wiese C, Li T, Liu X, Kristbjamason H, Levinson
D, Mowry BJ, Donnis-Keller H, Hayward NK, Crowe RR, Silverman JM, Nancarrow
DJ, Read CM. A combined analysis of D22S278 marker alleles in affected sib-pairs:
support for a susceptibility locus for schizophrenia at 22q12. Am. J. Med. Genet.
(Neuropsychiatric Genetics) 67 : 41-45 , 1996.
Perrin G, Morris MA, Antonarakis SE, Boltshauser E, Hutter P. Two novel mutations
affecting mRNA splicing of the neurofibromatosis type-1 (NF1) gene. Hum. Mut.
7 : 172-175 , 1996.
Chen H, Chrast R, Rossier C, Morris MA, Lalioti M, Antonarakis SE. Cloning of
559 potential exons of genes on human chromosome 21 by exon trapping. Genome
Res. 6 : 747-760 , 1996.
Antonarakis SE. Mutations in human diseases; Nature and consequences. in Rimoin
DL, Connor JM, Pyeritz RE eds. "Emery and Rimoin's Principles and Practice of
Medical Genetics" 3rd ed Churchill Livingstone (ISBN 0-443-04851-7), pp 53-66
, 1996.
Young M, Chen HM, Lalioti MD, Antonarakis SE. The human lanosterol synthase
gene maps to chromosome 21q22.3. Hum. Genet. 97 : 620-624 , 1996.
Chen HM, Rossier C, Lalioti M, Lynn A, Chakravarti A, Perrin G, Antonarakis
SE. Cloning of a human homolog of the drosophila white gene and mapping to chromosome
21q22.3. Am. J. Hum. Genet. 59 : 66-75 , 1996.
Blouin JL, Duriaux-Sail G, Chen HM, Gos A, Morris MA, Rossier C, Antonarakis
SE. Mapping of the gene for the p60 subunit of the human chromatin assembly
factor (CAF1A) to the Down syndrome critical region of chromosome 21. Genomics
33 : 309-312 , 1996.
Beaudet AL, Antonarakis SE, Beutler E, Cotton RGH, Desnick RJ, Kazazian HH,
McAlpine PJ, McKusick VA, Motulski AG, Scriver CR, Shows TB, Tsui LC, Valle
D (Ad hoc committee on mutation nomenclature). Update on nomenclature for mutations.
Hum. Mut. 8 : 197-202 , 1996.
Lalioti MD, Gos A, Green MR, Rossier C, Morris MA, Antonarakis SE. The gene
for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the
progressive myoclonus epilepsy (EPM1) critical region on chromosome 21. Genomics
33 : 298-300 , 1996.
Giannacopoulos P, Hof PR, Savioz A, Guimon J, Antonarakis SE, Bouras C. Early-onset
dementias: Clinical, neuropathologic and genetic characteristics. ACTA Neuropathol.
91 : 451-465 , 1996.
Chen HM, Gos A, Morris MA, Antonarakis SE. Localization of a human homolog of
the mouse pericentrin gene to chromosome 21qter. Genomics 35 : 620-624 , 1996.
Radhakrishna U, Blouin JL, Solanki JV, Dhoriani GM, Antonarakis SE. An autosomal
dominant triphalangeal thumb, polysyndactyly syndrome with variable expression
in a large Indian family maps to 7q36. Am. J. Med. Genet. 66 : 209-215 , 1996.
Blouin JL, Duriaux-Sail G, Antonarakis SE. Mapping of the human holocarboxylase
synthetase gene (HCS) to the Down syndrome critical region of chromosome 21q22.
Ann. Génét. 39 : 185-188 , 1996.
Antonarakis SE, Patterson D, Van Broeckhoven C, Shimizu N, Gardiner K, Delabar
J, Korenberg J, Reeves R. Report of the committee on the genetic constitution
of chromosome 21. Human Gene Mapping 1995 eds. Cuticchia AJ, Chipperfield M,
Foster PA, Johns Hopkins Univ Press (ISBN 0-8018-5343-5). pp 1060-1099 , 1996.
Sertie AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno
MR. A gene which causes severe ocular alterations and occipital encephalocele
(Knobloch syndrome) is mapped to 21q22.3. Hum. Mol. Genet. 5 : 843-848 , 1996.
Lalioti MD, Chen HM, Rossier C, Shafaatian R, Reid JD, Antonarakis SE. Cloning
of the cDNA for human PWP2 that encodes a protein with WD repeats and maps in
21q22.3. Genomics 35 : 321-327 , 1996.
Wacey AI, Kemball-Cook G, Kazazian HH, Antonarakis SE, Schwaab R, Lindley P,
Tuddenham EGD. The haemophilia A mutation search test and resource site; home
page of the factor VIII mutation database. Nucl. Acids Res. 24 : 100-102 , 1996.
Nadal M, Mila M, Prichard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta
F, Estivill X. YAC and cosmid FISH mapping of an unbalanced chromosome translocation
causing partial trisomy 21 and Down syndrome. Hum. Genet. 98 : 460-466 , 1996.
Hutter P, Couturier A, Scott RJ, Alday P, Delozier-Blanchet C, Cachat F, Antonarakis
SE, Joris F, Gaudin M, D'Amato L, Buerstedde JM. Complex genetic predisposition
to cancer in an extended HNPCC family with an ancestral hMLH1 mutation. J. Med.
Genet. 33 : 636-640 , 1996.
Antonarakis SE. Mapping by sequence homology. Eur. J. Hum. Genet. 4 : 247-249
, 1996.
Schizophrenia collaborative linkage group for chromosomes 3, 6, and 8. (Blackwood
D, Muir W, St Clair D, Morris S, Moises HW, Yang L, Kristbjarnarson H, Helgason
T, Collier DA, Holmans P, Daniels J, Rees M, Asherson P, Roberts Q, Cardno A,
Arranz MJ, Ball D, Kunugi H, Murray RM, Powell JF, McGuffin P, Owen MJ, Pulver
AE, Antonarakis SE, Babb R, Blouin JL, DeMarchi N, Dombrowski B, Housman D,
Karayiorgou M, Kasch L, Kazazian HH, Lasseter VK, Loetscher E, Luebbert H, Nestadt
G, Ton C, Cox-Matise T, Wolyniec PS, Laurent C, deChaldee M, Thibaut F, Jay
M, Samolyk D, Petit M, Campion D, Mallet J, Straub RE, MacLean CJ, Easter SM,
O'Neill FA, Walsh D, Kendler KS, Wildernauer DB, Schwab SG, Albus M, Hallmeyer
J, Hnig S, Borrman M, Lichtermann D, Ebstein RP, Ackenheil M, Lerer B, Risch
N, Maier W, Gejman PV, Cao Q, Gerson E, Badner J, Goldin L, Zhang J, Riley BP,
Rajagopalan S, Moduri-Carter M, Jenkins T, Williamson R, Garner C, Joslyn G,
Carey A, LeDuc C, Cardon L, Lichter J, Harris T, Loftus J, Shields G, Comasi
M, Vita A, Smith A, Dann J, Crow TJ, DeLisi LE, Gurling H, Kalsi G, Brynjolfsson
J, Curtis D, Sigmundsson T, Butler R, Read T, Murphy P, Chen ACH, Petursson
H, Byerley W, Coon H, Levinson DF, Nancarrow DJ, Kryglyak L, Crowe RR, Andreasen
N, Silverman JM, Mohs RC, Siever LJ, Endicott J, Sharpe L, Walters MK, Lennon
DP, Hayward NK, Sandkuijl LA, Mowry BJ, Aschauer HN, Meszaros K, Lenzinger E,
Fuchs K, Holmans P). Support for schizophrenia linkage findings on chromosomes
6 and 8: a multicenter study. Am. J. Med. Genet. (Neuropsychiatric Genetics)
67 : 580-584 , 1996.
Chen HM, Bouras C, Antonarakis SE. Cloning of the cDNA for a human homologue
of the rat PEP-19 gene and mapping to chromosome 21q22.2. Hum. Genet. 98 : 672-677
, 1996.
Chen HM, Rossier C, Antonarakis SE. Cloning of a human homolog of the Drosophila
Enhancer of zeste gene (EZH2) which maps to chromosome 21q22.2. Genomics 38
: 30-37 , 1996.
Antonarakis SE, Scott HS. The human genome project and its impact in Medicine.
In Birnstiel ML ed. "Gene Technology" European Review 4 : 415-426 , 1996.
Antonarakis SE. Premeiotic trisomy 21 in oocytes and Down syndrome: a reply
to Zheng and Byers hypothesis. Am. J. Hum. Genet. 59 : 1395-1397 , 1996.
Pulver AE, Wolyniec PS, Housman D, Kazazian HH, Antonarakis SE, Nestadt G, Lasseter
VK, McGrath JA, Dombroski B, Karayiorgou M, Ton C, Blouin JL, Kempf L. The Johns
Hopkins University Collaborative Schizophrenia study: An epidemiologic-genetic
approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility
genes. Cold Spring Harbor Symposia on Quantitative Biology, LXI : 797-814 ,
1996.
Sidransky E, N Tayebi, BK Stubblefield, W Eliason, A Klineburgess, GP Pizzolato,
JN Cox, J Porta, A Bottani, CD DeLozier-Blanchet. Molecular characterization
of DNA mutations in a family with lethal neonatal Gaucher disease resembling
the type 2 Gaucher mouse. J MED GENET 33:132-136 , 1996
Irion O, Dahoun S. Value and limits of transabdominal cytogenetic amniocenteses
during the first trimester of pregnancy. J Gynecol Obstet Biol Reprod 25:500-504
, 1996
Young M, Inaba H, Hoyer LW, Higuchi M, Kazazian HH Jr, Antonarakis SE. Partial
correction of a severe molecular defect in hemophilia A due to errors during
expression of the factor VIII gene. Am.J.Hum.Genet. 60 : 565-574 , 1997.
Eliez S, Morris MA, Dahoun-Hadorn S, Delozier-Blanchet C, Gos A, Sizonenco P,
Antonarakis SE. Familial translocation t(Y;15)(q12;p11) and de novo deletion
of the Prader-Willi syndrome (PWS) critical region on 15q11-q13. Am.J.Med.Genet.
70 : 222-228 , 1997.
Chen HM, Antonarakis SE. Localization of a human homolog of the Drosophila mnb
and rat Dyrk genes to chromosome 21q22.2. Hum. Genet. 99 : 262-265 , 1997.
Talabot F, Gos A, Lorenz J, Lai E, Morris MA, Antonarakis SE, Buell GN. Cloning
and mapping of novel human P2X receptor genes; clustering on chromosomes 12q24
and 17p13.3. Recep. & Chann. in press 1997.
Bittencourt MC, Morris MA, Chabod J, Gos A, Lamy B, Fellmann F, Antonarakis
SE, Plouvier E, Herve P, Tiberghien P. Fortuitous detection of uniparental disomy
of chromosome 6. J. Med. Genet. 34 : 77-78 , 1997.
Radhakrishna U, Blouin JL, Mehenni H, Mehta TY, Sheth FJ, Sheth JJ, Solanki
JV, Antonarakis SE. The gene for autosomal dominant hidrotic ectodermal dysplasia
(Clouston syndrome) in a large Indian family maps to the pericentromeric region
of chromosome 13q11-q12.1. Am. J. Med. Genet. 71 : 80-86 , 1997.
Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE. Isolation of a human
gene (HES1) with homology to an E.Coli and a zebrafish protein that maps to
chromosome 21q22.3. Hum.Genet. 99 : 616-623 , 1997.
Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, Quazzani R, Baldy-Moulinier
M, Bottani A, Malafosse A, Antonarakis SE. Identification of mutations in Cystatin
B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus
epilepsy (EPM1). Am. J. Hum. Genet. 60 : 342-351 , 1997.
Fokstuen S, Bottani A, Medeiros PFV, Antonarakis SE, Stoll C, Schinzel A. Laryngeal
atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.
Am. J. Med. Genet. 70 : 130-133 , 1997.
Mittaz L, Scott HS, Rossier C, Seeburg PH, Higuchi M, Antonarakis SE. Cloning
of a human RNA editing deaminase (ADARB1 or RED1) of glutamate receptors which
maps to chromosome 21q22.3. Genomics 41 : 210-217, 1997.
Chen H, Rossier C, Nakamura Y, Lynn A, Chakravarti A, Antonarakis SE. Cloning
of a novel homeobox-containing gene PKNOX1 and mapping to human chromosome 21q22.3.
Genomics 41 : 193-200 , 1997.
Savioz A, Blouin JL, Guidi S, Antonarakis SE, Bouras C. A method of extraction
of genomic DNA from human brain fixed and stored in formalin for many years.
ACTA Neuropathol. 93 : 408-413 , 1997.
Radhakrishna U, Blouin JL, Mehenni H, Patel UC, Patel MM, Solanki JV, Antonarakis
SE. Mapping one form of autosomal dominant postaxial polydactyly type-A (PAP-A)
to chromosome 7p15-q11.23 by linkage analysis. Am. J. Hum. Genet. 60 : 597-604
, 1997.
Chen H, Antonarakis SE. The SH3D1A gene maps to human chromosome 21q22.1-q22.2.
Cytogenet. Cell Genet. 78 : 213-215 , 1997.
Bartsch O, Hinkel GK, Petersen MB, Konig U, Bugge M, Mikkelsen M, Avramopoulos
D, Morris M, Antonarakis SE. A large family with subtelomeric translocation
t(18;21)(q23;q22.13) and molecular breakpoint in the Down syndrome critical
region. Hum. Genet. 100 : 669-675 , 1997.
Chrast R, Scott HS, Chen H, Kudoh J, Rossier C, Minoshima S, Wang Y, Shimizu
N, Antonarakis SE. Cloning of two human homologs of the Drosophila neurodevelopmental
regulator single-minded (sim) gene, SIM1 on chromosome 6q and SIM2 on 21q within
the Down syndrome chromosomal region. Genome Res. 7 : 615-624 , 1997.
Paoloni-Giacobino A, Chen H, Antonarakis SE. Cloning of a human Neural Cell
Adhesion molecule (NCAM-2) gene, that maps on chromosome 21q21, and is potentially
involved in Down syndrome. Genomics 43 : 43-51 , 1997.
Mittaz L, Antonarakis SE, Higuchi M, Scott HS. Localization of a novel human
RNA editing deaminase (hRED2 or ADARB2) to chromosome 10p15. Hum. Genet. 100
: 398-400 , 1997.
Villard J, Reith W, Barras E, Gos A, Morris MA, Antonarakis SE, Van der Elsen
PJ, Mach B. Analysis of mutations and chromosomal localization of the gene encoding
RFX5, a novel transcription factor affected in major histocompatibility complex
class II deficiency. Hum. Mut. 10 : 430-435 , 1997.
Scriver C, Cotton R, Antonarakis SE, McKusick V. Mutation database initiative
to go forward under HUGO. Gen. Digest 4 : 12-15 , 1997.
Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A,
Antonarakis SE. Dodecamer repeat expansion in cystatin B gene in progressive
myoclonus epilepsy. Nature 386 : 847-851 , 1997.
Neerman-Arbez M, Antonarakis SE, Blouin JL, Zeinali S, Akhtari M, Afshar Y,
Tuddenham EGD. The locus for combined factor V- factor VIII (F5F8D) maps to
18q21 between D18S849 and D18S1103. Am. J. Hum. Genet. 61 : 143-150 , 1997.
Paoloni-Giacobino A, Chen H, Peitsch MC, Rossier C, Antonarakis SE. Cloning
of the TMPRSS2 gene which encodes a novel serine protease with transmembrane,
LDLRA, and SRCR domains, and maps to 21q22.3. Genomics 44 : 309-320 , 1997.
Lalioti MD, Scott HS, Antonarakis SE. What is expanded in progressive myoclonus
epilepsy (EPM1) ? Nature Genetics 17 : 17 , 1997.
Radhakrishna U, Wild A, Grzeschik KH, Antonarakis SE. Mutation in GLI3 in postaxial
polydactyly type A. Nature Genetics 17 : 269-271 , 1997.
Karayiorgou M, Gogos JA, Galke BL, Jeffery JA, Nestadt G, Wolyniec PS, Antonarakis
SE, Kazazian HH, Housman DE, Driscoll DA, Pulver AE. Genotype and phenotype
analysis at the 22q11 schizophrenia susceptibility locus. Cold Spring Harbor
Symposia on Quantitative Biology, LXI : 835-843 , 1997.
Mehenni H, Blouin JL, Radhakrishna U, Baradwaj S, Baradwaj K, Dixit VB, Richards
KF, Fenoll BA, Silva Leal A, Raval RC, Antonarakis SE. Peutz-Jeghers syndrome:
confirmation of linkage to chromosome 19q13.3 and identification of a potential
second locus on 19q13.4. Am. J. Hum. Genet. 61 : 1327-1334 , 1997.
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE§,
Lalioti MD, Mullis PE, Antonarakis SE§, Kawasaki K, Asakawa S, Ito F, Shimizu
N§. Positional cloning of the APECED gene. §labs equally contributed. Nature
Genetics 17 : 393-398 , 1997.
Krohn K, Ovod V, Vilja P, Heino M, Scott H, Kyriakou DS, Antonarakis SE, Jacobs
HT, Isola J, Peterson P. Immunochemical characterization of a novel mitochondrially
located protein encoded by a nuclear gene within the DFNB8/10 critical region
on 21q22.3. Biochem. Biophys. Res. Com. 238 : 806-810 , 1997.
Kazazian HH Jr, Antonarakis SE. Molecular genetics of the hemoglobin genes.
in Singer M & Berg P editors; "Exploring genetic mechanisms". University Science
Press, (ISBN 0-935702-70.9) pp 301-336, 1997.
White JA, McAlpine PJ, Antonarakis SE, Cann H, Eppig J, Frazer K, Frezal J,
Lancet D, Nahmias J, Pearson P, Peters J, Scott A, Scott H, Spurr N, Talbot
C, Povey S. Guidelines for human gene nomenclature (1997). Genomics 45 : 468-471
, 1997.
Neerman-Arbez M, Antonarakis SE. Vers le développement de thérapies géniques
pour l' hémophilie. Méd. et Hyg. 55 : 1543-1548 , 1997.
Cooper DN, Krawczak M, Antonarakis SE. The nature and mechanisms of human gene
mutation. In Vogelstein B, Kinzler KW editors “The Genetic basis of human cancer”
(ISBN 0-07-067596-1) McGraw-Hill Co. pp. 65-94, 1997.
Knoepfler PS, Calvo KR, Chen H, Antonarakis SE, Kamps MP. Meis1 and Pknox1 bind
DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein
E2a-Pbx1. Proc. Natl. Acad. Sci. USA 94 : 14553-14558, 1997.
DeLozier-Blanchet CD, Wiser J. Prenatal diagnosis in Switzerland. Eur J Hum
Genet 5(suppl):77-83, 1997
DeLozier-Blanchet CD, Vekemans M. Mosaïque chromosomique et retard de croissance
intra-utérin. Arch Pediatr 4:815-817, 1997
Hergersberg M, Balakrishnan J, Bettecken T, Chevalier-Porst F, Bragger C, Burger
R, Einschenk I, Liechti-Gallati S, Morris M, Schorderet D, Thonney F, Moser
H, Malik N. "A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes
in Switzerland and causes a severe phenotype." Hum Genet : 100 220-223, 1997.
Martin-Du Pan RC, Morris MA, Favre H, Junod A, Pizzolato G-P, Bottani A. "Mitochondrial
Anomalies in a Swiss Family With Autosomal Dominant Myoglobinuria." Am J Med
Genet 69 : 365-369, 1997.
Chicheportiche Y, Hession C, Bourdon P, Scott HS, Garcia I, Browning J. TWEAK,
a new secreted ligand in the tumor necrosis factor family that weakly induces
apoptosis. J. Biol. Chem. 272: 32401-32410, 1997
Scott HS, Antonarakis SE, Lalioti MD, Rossier C, Silver PA, Henry MF. Identification
and characterization of two putative human arginine methyltransferases (HRMT1L1
and HRMT1L2) that map to chromosome 21q22.3 and 19q respectively. Genomics 48
: 330-340 , 1998.
Scott HS, Antonarakis SE. The genomics of chromosome 21 and Down syndrome. In
Buhlmeyer K, Sauer U, Schumacher G eds. "Genetics of cardiopathies" Verlag,
Berlin. in press 1998.
Scott HS, Kyriakou DS, Peterson P, Heino M, Tahtinen M, Krohn K, Chen H, Rossier
C, Lalioti MD, Antonarakis SE. Cloning of a novel gene, C21ORF2, in the APECED
critical region of human chromosome 21q22.3, and its mutation analysis. Genomics
47 : 64-70 , 1998.
Ives JH, Dagna-Bricarelli F, Basso G, Antonarakis SE, Jee R, Cotter F, Nizetic
D. Increased levels of the chromosome 21 encoded tumour invasion and metastasis
(TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase
of AML (M7). Genes Chromosomes Cancer. 23 : 61-66 , 1998.
Antonarakis SE and the mutation nomenclature working group. Recommendations
for a nomenclature system for human gene mutations. Hum. Mut. 11 : 1-3 , 1998.
Antonarakis SE. Down syndrome. In “Principles of Molecular Medicine” Jameson
JL, Jabs EW eds. Humana Press Inc, Totowa, NJ. (ISBN 0-89603-529-8). pp 1069-1078
, 1998
Karayiorgou M, Gogos JA, Galke BL, Jeffery JA, Nestadt G, Lasseter VK, Wolyniec
PS, Antonarakis SE, Kazazian HH, Housman DE, Driscoll DA, Pulver AE. Molecular
cheracterization of the 22q11 psychosis susceptibility locus: the role of COMT.
Biol. Psych. 43: 425-431, 1998.
Vargas FR, Roessler E, Gaudenz K, Belloni E, Whitehead S, Kirke PN, Mills J,
Hooper G, Stevenson RE, Cordeiro I, Correia P, Felix T, Gereige R, Cunningham
ML, Canun S, Antonarakis SE, Strachan T, Tsui LC, Scherer SW, Muenke M. Analysis
of the human Sonic Hedgehog coding and promoter regions in sacral agenesis,
triphalangeal thumb, and mirror polydactyly. Hum. Genet. 102 : 387-392 , 1998.
Antonarakis SE. Molecular genetics of coagulation factor VIII gene and Haemophilia
A. Haemophilia in press 1998.
Blouin LJ, Duriaux-Sail G, Guipponi M, Rossier C, Papasavvas MP, Antonarakis
SE. Isolation of the human BACH1 transcription regulator gene which maps to
chromosome 21q22.1. Hum. Genet. 102 : 282-288 , 1998.
Lapenta V, Sossi V, Gosset P, Vitali T, Rabatel N, Tassone F, Vayssettes C,
Blouin JL, Scott HS, Antonarakis SE, Creau N, Brahe C. Construction of a 2.5
Mb integrated physical, genetic and gene map of distal 21q22.3. Genomics 49
: 1-13 , 1998.
Antonarakis SE. Expansion of a 12mer (CCCCGCCCCGCG) repeat in progressive myoclonus
epilepsy. In “Genetic instabilities and hereditary neurological disorders” Wells
RD & Warren ST eds. Academic Press. (ISBN 0-12-742935-2), pp 779-790 , 1998.
Lalioti MD, Scott HS, Genton P, Grid D, Ouazzani R, M'Rabet A, Ibrahim S, Gouider
R, Dravet C, Chkili T, Bottani A, Burezi C, Malafosse A, Antonarakis SE. A PCR
amplification method reveals instability of the dodecamer repeat in Progressive
myoclonus epilepsy (EPM1) and no correlation between the size of the repeat
and age of onset. Am. J. Hum. Genet. 62 : 842-847 , 1998.
Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Romeo
G, Seri M, Lerone M, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP,
Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJE, Antonarakis SE. Common
mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
(APECED) patients of different origins. Mol. Endocrinol. 12 : 1112-1119 , 1998.
Kaufman RJ, Antonarakis SE. Structure, biology and genetics of Factor VIII.
in Hoffman R, Benz EJ, Shattil SJ, Furie B, Cohen HJ, and Silberstein LE eds.
"Hematology ; Basic Principles and Practice". 3rd edition. Churchill Livingston.
1998.
Antonarakis SE. 10 years of Genomics, chromosome 21 and Down syndrome. Genomics
51 : 1-16 , 1998.
Curtis L, Blouin JL, Radhakrishna U, Gehrig C, Lasseter VK, Wolyniec P, Nestadt
G, Dombroski B, Kazazian HH, Pulver AE, Housman D, Bertrand D, Antonarakis SE.
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.
Am. J. Med. Genet. (Neuropsychiatric Genetics) in press 1998.
Group 1. Rosatelli MC*, Meloni Al, Meloni An, Devoto M, Cao A, Group 2. Scott
HS*, Peterson P, Heino M, Krohn KJE, Nagamine K, Kudoh J, Shimizu N, Antonarakis
SE. A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal
dystrophy (APECED) patients. (*equally contributed). Hum. Genet. 103 , 428-434.
1998.
Peterson P, Nagamine K, Scott HS, Heino M, Kudoh J, Shimizu N, Antonarakis SE,
Krohn KJE. APECED: a monogenic autoimmune disease providing new clues to self
tolerance. Immunol. Today 19 : 384-386 , 1998.
Blouin JL*, Dombroski B*, Nath SK*, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist
M, Ullrich G, McGrath J, Kasch L, Lamacz M, Gehrig C, Radhakrishna U, Snyder
SE, Balk KG, Neufeld K, DeMarchi N, Papadimitriou GN, Dikeos DG, Stefanis CN,
Chakravarti A, Childs B, Housman DE, Kazazian HH, Antonarakis SE, Pulver AE.
Multigenic inheritance of schizophrenia: A genome scan identifies susceptibility
loci on chromosomes 13q32 and 8p21. (*equally contributed). Nature Genetics
20 : 70-73 , 1998.
Stratakis CA, Kirschner LS, Taymans SE, Tomlinson IPM, Torpy DJ, Eccles DM,
Theaker J, Houlston RS, Marsh DJ, Blouin JL, Antonarakis SE, Basson CT, Eng
C, Carney JA. Carney complex, Peutz-Jeghers syndrome, Cowden disease and Bannayan-Zonana
syndrome share cutaneous and endocrine manifestations but not genetic loci.
J Clin Endocrinol Metab. 83 : 2972-2976 , 1998.
Theophilus BDM, Enayat MS, Higuchi M, Kazazian HH Jr, Antonarakis SE, Hill FGH.
Independent occurrence of the novel Arg2163His mutation in the factor VIII gene
in three unrelated families with Hemophilia A with different phenotypes. Hum.
Mut. 11 : 334 , 1998.
Antonarakis SE, Van Aelst L. Mind the GAP, Rho, Rab, and GDI. Nature Genetics
19 : 106-108 , 1998.
Jones P, Antonarakis SE, Battistella L, Chuansumrit A, Dowdeswell B, Evatt B,
Ginter EK, Lee C, Peake I, Preston E, Rickard K, Srivastava A, Kasper C, Lobillard
L, Napalkov NP, Tsechkovski MS, Wasunna A, Boulyjenkov V, Emmanuel J, Richstein
K. Control of Haemophilia: Haemophilia care in developing countries. Report
of a joint W.H.O./World Federation of Haemophilia meeting. In press 1998.
Heino M, Scott HS, Chen Q, Peterson P, Maenpaa U, Papasavvas MP, Mittaz L, Barras
C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, McLaren
N, Antonarakis SE, Krohn KJE. Mutation analysis of Northern American APS-1 patients.
Hum. Mutation in press 1998.
Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G,
Housman D, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ,
Pulver AE. Lack of linkage or association between schizophrenia and the polymorphic
trinucleotide repeat within the KCNN3 gene on chromosome 1q21. Am. J. Med. Genet.
(Neuropsychiatric Genetics) in press 1998.
Guipponi ML, Scott HS, Chen H, Schebesta A, Rossier C, Antonarakis SE. Two isoforms
of a human intersectin protein are produced by brain specific alternative splicing
in a stop codon. Genomics 53 : 369-376. 1998.
Mehenni H, Gehrig C, Nezu JI, Oku A, Shimanand M, Rossier C, Blouin JL, Guex
N, Radhakrishna U, Scott HS, Antonarakis SE. Loss of LKB1 activity in Peutz-Jeghers
syndrome and evidence for allelic and locus heterogeneity. Am. J. Hum. Genet.
In press 1998.
Kaufman RJ, Antonarakis SE, Fay P. The biology and genetics of factor VIII deficiency
in hemophilia A. in Colman RW, Hirsh J, Mander VJ, Clowes AW, George JN eds.
"Hemostasis and Thrombosis: Basic principles and clinical practice" 4th edition,
Lippincott-Raven Publ., Philadelphia, PA. 1998.
Guipponi M, Scott HS, Kudoh J, Kawasaki K, Shibuya K, Shintani A, Asakawa S,
Chen H, Lalioti MD, Rossier C, Minoshima S, Shimizu N, Antonarakis SE. Identification
and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A)
that maps to 21q22.3; alternative splicing of mRNA transcripts, genomic structure
and sequence. Hum. Genet. 103 , 386-392. 1998.
McKusick VA with the assistance of Antonarakis SE, Francomano CA, Hurko O, Scott
AF, Smith M, Valle D. “Mendelian Inheritance in Man. A Catalog of Human Genes
and Genetic Disorders”. 12 th edition. The Johns Hopkins University Press (ISBN
0-8018-5742-2); Baltimore and London, 1998.
Guipponi ML, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE. Genomic
structure, sequence and refined mapping of the human intersectin (ITSN) gene
which encompasses 250 kb on chromosome 21q22.1-q22.2. Cyto Cell Genet. In press.
1998.
Bugge M, A Collins, MB Petersen, J Fisher, C Brandt, JM Hertz, L Tranebjaerg,
CD DeLozier-Blanchet, P Nicolaides, K Brondum-Nielsen, N Morton, M Mikkelsen.
Non-disjunction of chromosome 18. HUM MOLEC GENET 7:661-669 , 1998
DeLozier-Blanchet CD. Le diagnostic prédictif pré- et postnatal, aujourd'hui
et à l'avenir. Cahiers Medico-Sociaux 41:9-19, 1997
Xiang R, Z Zhang, A Clarke, P Joseluiz, N Sakkubai, B Sarojini, CD DeLozier-Blanchet
, I Hansmann, L Edström, M Anvret. Chromosome mapping of Rett syndrome: a likely
candidate region on the telomere of Xq. CLIN GENET 35:297-300 , 1998.
European Collaborative Study on mosaicism in chorionic villus sampling (EUCROMIC).
Trisomy 15 CPM: Probable origins, pregnancy outcome and risk of fetal UPD. in
press, Prenat Diagn.
DeLozier-Blanchet CD et al. Mosaicisme chromosomique confiné au placenta et
pathologies reproductives. Bull Perinat
Magistris MR, Kohler A, Pizzolato GP, Morris MA, Baroffio A, Bernheim L, Bader
CR. "Needle muscle biopsy in the investigation of neuromuscular disorders".
Muscle nerve feb 194-200, 1998.
Paoloni-Giacobino A, Morris MA, Dahoun SP "Prenatal supernumerary r(16) chromosome
characterized by multiprobe FISH with normal pregnancy outcome". Prenatal Diagnosis
18 751:752, 1998.
De Marchi N, Morris M, Mennella R, La Pia S, Nestadt G "Association of obsessive-compulsive
disorder and pathological gambling with Huntington's disease in an Italian pedigree:
possible association with Huntington's disease mutation". Acta Psychiatr Scand
97 62-65, 1998.
Fankhauser-Nötzli L., Morris M., Dahoun S. Cri Du Chat syndrome diagnosed by
amniocentesis because of abnormal serum maternal screening Prenatal Diagn. in
press 1998
DeLozier-Blanchet CD, B Plaschy, C Daniel-Silacci, J Cox, S Dahoun-Hadorn, A
Gos, J Locker, Ph. Extermann. Mosaicisme chromosomique confiné au placenta et
pathologies reproductives. BULL PERINAT 22:4-7 , 1998.
Scott HS, Antonarakis SE. The genomics of chromosome 21 and Down syndrome. In Schumacher G, Sauer U, eds. "Genetics of cardiopathies" (ISBN 3-8047-1635-0) Wissenschaftliche Verlag, Stuttgart. Pp 164-179 , 1999.
Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. A testis-expressed gene (TPTE), encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosome 21, and to chromosomes 13, 15, 22, and Y. Hum. Genet. 105 : 399-409 , 1999.
Kaufman RJ, Antonarakis SE. Structure, biology and genetics of Factor VIII. in Hoffman R, Benz EJ, Shattil SJ, Furie B, Cohen HJ, Silberstein LE and McGlave P eds. "Hematology ; Basic Principles and Practice". 3rd edition. Churchill Livingston (ISBN 0-443-07954-4), New York pp 1850-1869, 1999.
Curtis L, Blouin JL, Radhakrishna U, Gehrig C, Lasseter VK, Wolyniec P, Nestadt G, Dombroski B, Kazazian HH, Pulver AE, Housman D, Bertrand D, Antonarakis SE. No evidence for linkage between schizophrenia and markers at chromosome 15q13-14. Am. J. Med. Genet. (Neuropsychiatric Genetics) 88 : 109-112 , 1999.
Heino M, Scott HS, Chen Q, Peterson P, Maenpaa U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chroussos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, McLaren N, Antonarakis SE, Krohn KJE. Mutation analysis of Northern American APS-1 patients. Hum. Mutation 13 : 69-74 , 1999.
Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G, Housman D, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ, Pulver AE. Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. Am. J. Med. Genet. (Neuropsychiatric Genetics) 83 : 348-351 , 1999.
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Singh D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly type-A/B (PAP-A/B); no phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65 : 645-655, 1999.
Neerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EGD. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency (F5F8D). Blood 93 : 2253-2260 , 1999.
Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletions of the fibrinogen alpha-chain gene (FGA) cause congenital afibrinogenemia. J. Clin. Invest. 103 : 215-218 , 1999.
Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, Ranki A, Rantala I, Nieminen M, Tuukkanen J, Scott HS, Antonarakis SE, Shimizu N, Krohn KJE. Autoimmune regulator (AIRE) is expressed both in epithelial and non-epithelial cells in thymus medulla and in peripheral lymphoid tissues. Biochem. Biophys. Res. Commun. 257 : 821-825 , 1999.
Wang SY, Cruts M, Del-Favero J, Zhang Y, Bosch , Chen HM, Bennett L, Patterson D, Potier MC, Nizetic D, Estivill X, Antonarakis SE, Kessling A, Van Broeckhoven C. An STS-based contig map of human chromosome 21p ranging from the centromere to the rDNA gene cluster. Genome Res. 9 : 1059-1073 , 1999.
Guipponi ML, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE. Genomic structure, sequence and refined mapping of the human intersectin (ITSN) gene which encompasses 250 kb on chromosome 21q22.1-q22.2. Cytogenet. Cell Genet. 83 : 218-220 , 1999.
Chrast R, Scott HS, Antonarakis SE. Optimized protocols for linearization and purification of BAC DNA for the development of transgenic mice. Transgenic Res. 8 : 147-150, 1999.
Bartoloni L, Blouin JL, Sainsbury AJ, Gos A, Morris MA, Affara NA, DeLozier-Blanchet C.D, Antonarakis SE. Assignment of the human dynein heavy chain gene DNEL1 to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping. Cytogenet. Cell Genet. 84 : 188-189 , 1999.
Paoloni-Giacobino A, Antonarakis SE. Vieillissement et longévité: hypothèses génétiques. Méd. et Hyg. 57 : 1718-1725 , 1999.
Mittaz L, Rossier C, Heino M, Gos A, Morris MA, Peterson P, Krohn KJE, Kudoh J, Shimizu N, Antonarakis SE, Scott HS. Isolation and characterization of the mouse Aire gene. Biochem. Biophys. Res. Com. 255 : 483-490 , 1999.
Lalioti MD, Scott HS, Antonarakis SE. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Hum. Molec. Genet. 8 : 1791-1798 , 1999.
Roessler E, Mittaz L, Du A, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SPT, Muenke M, Antonarakis SE. Structure of the human Lanosterol synthetase gene and its analysis as a candidate for holoprocencephaly. (HPE1). Hum. Genet. 105 : 489-495 , 1999.
Neerman-Arbez M, Antonarakis SE, Honsberger A, Morris MA. The 11 kb deletion responsible for congenital afibrinogenemia is mediated by a short direct repeat in the fibrinogen gene cluster. Eur. J. Hum. Genet. 7 : 897-902 , 1999.
Blouin JL, Antonarakis SE. Le syndrome de Kartagener et le syndrome des cils immobiles. Méd. et Hyg. 57 : 1881-1884 , 1999.
Groner Y, Antonarakis SE, Levanon
D. Summary report on the EMBO workshop on "Molecular Biology of Chromosome
21 and Down syndrome. Cytogenet. Cell Genet. 86 : 1-20 , 1999.
Bottani A. Le rôle du pédiatre dans l'évaluation d'un enfant
"dysmorphique". Rev Med Suisse Romande 1999; 119: 107-109.
DeLozier-Blanchet CD, Haenggeli CA, Bottani A. MEHMO, a novel syndrome: assignment
of disease locus to Xp21.1-p22.13. Eur J Hum Genet 1999; 7: 621-622.
Paoloni-Giacobino A, Bottani A, Dahoun SP. Pure partial trisomy 5q33-qter resulting
from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation.
Ann Genet 1999; 42:166-169.
Morales M, Bottani A, Gersbach-Forrer M, Campana A, Chardonnens D. Blépharophimosis-Ptosis-Epicanthus inversus syndrome et stérilité. J Gynecol Obstet Biol Reprod (Paris) 1999; 28: 833-837
DeLozier-Blanchet CD (1999) Disomie uniparentale et diagnostic prénatal: Modalités pratiques. Ann Genet 42:250-251.
Fankhauser-Nötzli L., Morris M., Dahoun S.P. Cri Du Chat syndrome diagnosed by amniocentesis because of abnormal serum maternal screening. Prenatal diagn. 18(10):(1999)
Paoloni Giacobino A., Morris M.A., Dahoun S.P. A proven case of materno foetal transfusion determinated by cytogenetic and DNA analysis. Clin. Genet. 55; 256-258 :(1999)
John CK Barber, Caroline J Reed,
Sophie P. Dahoun, Christine A Joyce
Amplification of a pseudogene cassette underlies euchromatic variation of 16p
at the cytogenetic level. Hum. Genet. 104;211-218 :(1999)
Paoloni-Giacobino A, Dutoit MH, Morris
MA, Dahoun SP. "A proven case of materno-foetal transfusion determined
by cytogenetic and DNA analysis". Clin Genet 55 256-258, 1999.
Reymond, A., Volorio, S., Merla, G., Al-Maghtheh, M., Zuffardi, O., Bulfone,
A., Ballabio, A. & Zollo, M., Evidence for interaction between human PRUNE
and nm23-H1 proteins: implications for the progression of neuroblastoma, Oncogene18,
1999, 7244-252.
Chen H, Rossier C, Morris MA, Scott HS, Gos A, Bairoch A, Antonarakis SE. A testis-expressed gene (TPTE), encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosome 21, and to chromosomes 13, 15, 22, and Y. Hum. Genet. 105 : 399-409 , 1999.
Kaufman RJ, Antonarakis SE. Structure, biology and genetics of Factor VIII. in Hoffman R, Benz EJ, Shattil SJ, Furie B, Cohen HJ, Silberstein LE and McGlave P eds. "Hematology ; Basic Principles and Practice". 3rd edition. Churchill Livingston (ISBN 0-443-07954-4), New York pp 1850-1869, 1999.
Curtis L, Blouin JL, Radhakrishna U, Gehrig C, Lasseter VK, Wolyniec P, Nestadt G, Dombroski B, Kazazian HH, Pulver AE, Housman D, Bertrand D, Antonarakis SE. No evidence for linkage between schizophrenia and markers at chromosome 15q13-14. Am. J. Med. Genet. (Neuropsychiatric Genetics) 88 : 109-112 , 1999.
Heino M, Scott HS, Chen Q, Peterson P, Maenpaa U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chroussos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, McLaren N, Antonarakis SE, Krohn KJE. Mutation analysis of Northern American APS-1 patients. Hum. Mutation 13 : 69-74 , 1999.
Antonarakis SE, Blouin JL, Lasseter VK, Gehrig C, Radhakrishna U, Nestadt G, Housman D, Kazazian HH, Kalman K, Gutman G, Fantino E, Chandy KG, Gargus JJ, Pulver AE. Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21. Am. J. Med. Genet. (Neuropsychiatric Genetics) 83 : 348-351 , 1999.
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Singh D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly type-A/B (PAP-A/B); no phenotype prediction from the position of GLI3 mutations. Am. J. Hum. Genet. 65 : 645-655, 1999.
Neerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EGD. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency (F5F8D). Blood 93 : 2253-2260 , 1999.
Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletions of the fibrinogen alpha-chain gene (FGA) cause congenital afibrinogenemia. J. Clin. Invest. 103 : 215-218 , 1999.
Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, Ranki A, Rantala I, Nieminen M, Tuukkanen J, Scott HS, Antonarakis SE, Shimizu N, Krohn KJE. Autoimmune regulator (AIRE) is expressed both in epithelial and non-epithelial cells in thymus medulla and in peripheral lymphoid tissues. Biochem. Biophys. Res. Commun. 257 : 821-825 , 1999.
Wang SY, Cruts M, Del-Favero J, Zhang Y, Bosch , Chen HM, Bennett L, Patterson D, Potier MC, Nizetic D, Estivill X, Antonarakis SE, Kessling A, Van Broeckhoven C. An STS-based contig map of human chromosome 21p ranging from the centromere to the rDNA gene cluster. Genome Res. 9 : 1059-1073 , 1999.
Guipponi ML, Scott HS, Hattori M, Ishii K, Sakaki Y, Antonarakis SE. Genomic structure, sequence and refined mapping of the human intersectin (ITSN) gene which encompasses 250 kb on chromosome 21q22.1-q22.2. Cytogenet. Cell Genet. 83 : 218-220 , 1999.
Chrast R, Scott HS, Antonarakis SE. Optimized protocols for linearization and purification of BAC DNA for the development of transgenic mice. Transgenic Res. 8 : 147-150, 1999.
Bartoloni L, Blouin JL, Sainsbury AJ, Gos A, Morris MA, Affara NA, DeLozier-Blanchet C.D, Antonarakis SE. Assignment of the human dynein heavy chain gene DNEL1 to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping. Cytogenet. Cell Genet. 84 : 188-189 , 1999.
Paoloni-Giacobino A, Antonarakis SE. Vieillissement et longévité: hypothèses génétiques. Méd. et Hyg. 57 : 1718-1725 , 1999.
Mittaz L, Rossier C, Heino M, Gos A, Morris MA, Peterson P, Krohn KJE, Kudoh J, Shimizu N, Antonarakis SE, Scott HS. Isolation and characterization of the mouse Aire gene. Biochem. Biophys. Res. Com. 255 : 483-490 , 1999.
Lalioti MD, Scott HS, Antonarakis SE. Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Hum. Molec. Genet. 8 : 1791-1798 , 1999.
Roessler E, Mittaz L, Du A, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SPT, Muenke M, Antonarakis SE. Structure of the human Lanosterol synthetase gene and its analysis as a candidate for holoprocencephaly. (HPE1). Hum. Genet. 105 : 489-495 , 1999.
Neerman-Arbez M, Antonarakis SE, Honsberger A, Morris MA. The 11 kb deletion responsible for congenital afibrinogenemia is mediated by a short direct repeat in the fibrinogen gene cluster. Eur. J. Hum. Genet. 7 : 897-902 , 1999.
Blouin JL, Antonarakis SE. Le syndrome de Kartagener et le syndrome des cils immobiles. Méd. et Hyg. 57 : 1881-1884 , 1999.
Groner Y, Antonarakis SE, Levanon
D. Summary report on the EMBO workshop on "Molecular Biology of Chromosome
21 and Down syndrome. Cytogenet. Cell Genet. 86 : 1-20 , 1999.
Bottani A. Le rôle du pédiatre dans l'évaluation d'un enfant
"dysmorphique". Rev Med Suisse Romande 1999; 119: 107-109.
DeLozier-Blanchet CD, Haenggeli CA, Bottani A. MEHMO, a novel syndrome: assignment
of disease locus to Xp21.1-p22.13. Eur J Hum Genet 1999; 7: 621-622.
Paoloni-Giacobino A, Bottani A, Dahoun SP. Pure partial trisomy 5q33-qter resulting
from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation.
Ann Genet 1999; 42:166-169.
Morales M, Bottani A, Gersbach-Forrer M, Campana A, Chardonnens D. Blépharophimosis-Ptosis-Epicanthus inversus syndrome et stérilité. J Gynecol Obstet Biol Reprod (Paris) 1999; 28: 833-837
DeLozier-Blanchet CD (1999) Disomie uniparentale et diagnostic prénatal: Modalités pratiques. Ann Genet 42:250-251.
Fankhauser-Nötzli L., Morris M., Dahoun S.P. Cri Du Chat syndrome diagnosed by amniocentesis because of abnormal serum maternal screening. Prenatal diagn. 18(10):(1999)
Paoloni Giacobino A., Morris M.A., Dahoun S.P. A proven case of materno foetal transfusion determinated by cytogenetic and DNA analysis. Clin. Genet. 55; 256-258 :(1999)
John CK Barber, Caroline J Reed,
Sophie P. Dahoun, Christine A Joyce
Amplification of a pseudogene cassette underlies euchromatic variation of 16p
at the cytogenetic level. Hum. Genet. 104;211-218 :(1999)
Paoloni-Giacobino A, Dutoit MH, Morris
MA, Dahoun SP. "A proven case of materno-foetal transfusion determined
by cytogenetic and DNA analysis". Clin Genet 55 256-258, 1999.
Reymond, A., Volorio, S., Merla, G., Al-Maghtheh, M., Zuffardi, O., Bulfone,
A., Ballabio, A. & Zollo, M., Evidence for interaction between human PRUNE
and nm23-H1 proteins: implications for the progression of neuroblastoma, Oncogene18,
1999, 7244-252.
Kaufman RJ, Antonarakis SE, Fay PJ. Factor VIII and Hemophilia A. in Colman RW, Hirsh J, Marder VJ, Clowes AW, George JN eds. "Hemostasis and Thrombosis: Basic principles and clinical practice" 4th edition, chapter 8, Lippincott, Williams & Wilkins (ISBN 0-7817-1455-9), Philadelphia, PA. pp 135- 156 , 2000.
Scott HS, Antonarakis SE, Mittaz L, Lalioti MD, Younus F, Mohyuddin A, Mehdi SQ, Gal A. Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3. Adv. Otorhinolaryngol. 56 : 158-163 , 2000.
Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran A, Stephan ML, Gosselin R, Kelsell D, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GY. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur. J. Hum. Genet. 8 : 372-380 , 2000.
Blouin J-L, Meeks M, Radhakrishna U, Sainsbury AJ, Gehrig C, Duriaux-Saïl G, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, Van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne P-A, Delozier-Blanchet CD, Antonarakis SE. Primary Ciliary Dyskinesia: A genome-wide linkage analysis reveals extensive locus heterogeneity. Eur. J. Hum. Genet. 8 : 109-118 , 2000.
Lynn A, Kashuk C, Petersen MB, Bailey JA, Cox DR, Antonarakis SE, Chakravarti A. Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res. 10 : 1319-1332 , 2000.
Neerman-Arbez M, De Moerloose P, Bridel C, Honsberger A, Schonborner A, Rossier C, Peerlink K, Claessens S, Di Michele D, D'Oiron R, Dreyfus M, Laubriat-Blanchin M, Dieval J, Antonarakis SE, Morris MA. Mutations in the fibrinogen A gene (FGA) account for the majority of congenital afibrinogenemia. Blood 96 : 149-152 , 2000.
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion paper. Hum. Mutat. 15 : 7-12 , 2000.
Aapola U, Shibuya K, Scott HS, Ollila J, Vihinen M, Heino M, Shintani A, Kawasaki K, Minoshima S, Krohn K, Antonarakis SE, Shimizu N, Kudoh J, Peterson P. Isolation and initial characterization of a novel zinc finger gene, DNMT3L on 21q22.3, related to cytosine-5-methyltransferase 3 gene family. Genomics 65 : 293-298 , 2000.
Guipponi M, Brunschwig K, Chamoun Z, Scott HS, Shibuya K, Kudoh J, Delezoide AL, El-Samadi S, Chettouh Z, Rossier C, Shimizu N, Mueller F, Delabar JM, Antonarakis SE. C21orf5, a novel human chromosome 21 gene that is potentially involved in Down syndrome has a C.Elegans ortholog (pad-1) required for embryonic patterning. Genomics 68 : 30-40 , 2000.
Heino M, Peterson P, Sillanpaa N, Guerin S, Naquet P, Anderson G, Scott HS, Kudoh J, Shimizu N, Antonarakis SE, Jenkinson EJ, Krohn KJE. RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB deficient and NOD mouse. Eur. J. Immunol. 30 : 1884-1893 , 2000.
Pitkanen J, Doucas V, Sternsdorf T, Nakajima T, Aratani S, Jensen K, Will H, Vahamurto P, Ollila J, Vihinen M, Scott HS, Antonarakis SE, Kudoh J, Shimizu N, Krohn KJE, Peterson P. The autoimmune regulator protein (AIRE) has transcriptional transactivating properties and interacts with common co-activator CREB-binding protein (CBP). J. Biol. Chem. 275 : 16802-16809 , 2000.
Chrast R, Scott HS, Madani R, Huber L, Wolfer DP, Prinz M, Aguzzi A, Lipp HP, Antonarakis SE. Mice trisomic for a BAC with the single minded 2 gene (Sim2) show some of the phenotypes of the partial trisomy 16 mouse models of Down syndrome. Hum. Molec. Genet. 9 : 1853-1864 , 2000.
Eliez S, Palacio-Espasa F, Spira A, Lacroix M, Pont C, Luthi F, Schorderet D, Robert-Tissot C, Antonarakis SE, Cramer B. Young children presenting a 22q11.2 deletion; psychological and language phenotypes. Eur. Child. Adolesc. Psychiatry 9 : 109-114 , 2000.
Michaud J, Kudoh J, Berry A, Bonne-Tamir B, Lalioti MD, Rossier C, Shibuya K, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis SE, Scott HS. Isolation and characterization of a human chromosome 21q22.3 Gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Genomics 68 : 71-79 , 2000.
Maiti AK, Bartoloni L, Mitchison, H, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin JL, Gardiner RM, Antonarakis SE. No deleterious mutations in the FOXJ1 (alias HFH4) gene in patients with Primary Ciliary Dyskinesia (PCD). Cytogenet. & Cell Genet. 90 : 119-122 , 2000.
Berry A, Scott HS, Kudoh J, Talior I, Korostichevsky M, Wattenhofer M, Guipponi ML, Barras C, Rossier C, Shibuya K, Wang J, Kawasaki K, Asakawa S, Minoshima S, Shimizu N, Antonarakis SE, Bonné-Tamir B. Refined localization of autosomal recessive non-syndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure and exclusion of six known genes in the region. Genomics 68 : 22-29 , 2000.
Antonarakis SE, McKusick VA. OMIM passes the 1,000-disease-gene mark. Nature Genetics 25 : 11 , 2000.
Levinson DF, Holmans P, Straub RE,
Owen MJ, Wildenauer DB, Gejman PV, Pulver AE, Laurent C, Kendler KS, Walsh D,
Norton N, Williams NM, Schwab SG, Lerer B, Mowry BJ, Sanders AR, Antonarakis
SE, Blouin JL, DeLeuze JF, Mallet J. Multicenter linkage study of schizophrenia
candidate regions on chromosomes
5q, 6q, 10p and 13q: Schizophrenia Linkage Collaborative Group III. Am J Hum
Genet 67 : 652-663 , 2000.
The chromosome 21 mapping and sequencing consortium: Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Soeda E, Ohki M, Takagi T, Groner Y, Sakaki Y; Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A; Kudoh J, Shibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N; Nordsiek G, Hornischer K, Brandt P, Scharfe M, Schön O, Desario A, Reichelt J, Kauer G, Blöcker H; Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML. The DNA sequence of human chromosome 21. Nature 405 : 311-319 , 2000.
Guipponi M, Yaspo ML, Riesselman L, Chen H, De Sario A, Roizès G, Antonarakis SE. Genomic structure of a copy of the human TPTE gene which encompasses 85 kb on the short arm of chromosome 21. Hum. Genet. 107 : 127-131 , 2000.
Antonarakis SE, Krawczak M, Cooper DN. Disease-causing mutations in the human genome. Europ. J. Peds 159 : S173-S178 , 2000.
Marneros A, Mehenni H, Krieg T, Antonarakis SE, Olsen BR. Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine mapping and its exclusion as a candidate for Peutz-Jeghers syndrome. Cytogenet. & Cell Genet. in press 2000.
Chrast R, Scott HS, Papasavvas MP, Rossier C, Antonarakis ES, Barras C, Davisson MT, Schmidt C, Estivill X, Dierssen M, Pritchard M, Antonarakis SE. The mouse brain transcriptome by Serial Analysis of Gene Expression (SAGE): Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals and between males and females. Genome Res. 10 : 2006-2021 , 2000.
Bartoloni L, Wattenhofer M, Kudoh J, Berry A, Shibuya K, Kawasaki K, Wang J, Asakawa S, Talior I, Bonne-Tamir B, Rossier C, Michaud J, McCabe ERB, Minoshima S, Shimizu N, Scott HS, Antonarakis SE. Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in 2 candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Genomics 70 : 190-200 , 2000.
Pulver AE, Mulle J, Nestadt G, Blouin JL, Dombroski B, Liang KY, Housman DE, Kazazian HH, Antonarakis SE, Lasseter VK, Wolyniec PS, Thornquist MH, McGrath JA. Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes. Mol. Psych. 5 : 650-653 , 2000.
Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Haytfick SJ , Zonana J, Antonarakis SE, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Mutations in the human connexin-30 gene (GJB6) cause hidrotic ectodermal dysplasia (Clouston syndrome). Nature Genetics 26: 142-144 , 2000.
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Reardon W, A Smith, JW Honour, P Hindmarch, G Rumsby, I Nelson, S Malcolm, L Ades, D Sillence, D Kuman, C DeLozier-Blanchet, T Kelly, M Baraitser, RM Winter (2000). Evidence for digenic inheritance in some cases of Antley-Bixler syndrome. J Med Genet 37:26-32
DeLozier-Blanchet CD (2000) Course profile: Genetic counselling in practice. Eur J Hum Genet 8(5):398.
DeLozier-Blanchet CD, E Roeder, R Denis-Arrue, JL Blouin, J Low, J Fisher, D Scharnhorst, CJ Curry (2000) Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. Am J Med Genet 95:444-449.
Paoloni Giacobino A, Dahoun S.P., Stalberg A., Chardonnens D., Campana A. A case of 45,X Turner syndrome with spontaneous ovulation proven by ultrasonography. Gynecol Endocrinol. 14(2):105-10. [2000]
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Morabia A, Bernstein MS, Bouchardy I, Kurtz J, Morris MA. "Breast cancer,
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TMPRSS3, the transmembrane serine protease mutated in deafness DFNB8/10 activates the ENaC epithelial sodium channel in vitro.
Michel Guipponi, Grégoire
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Nathalie Scamuffa, Elizabeth Guida, Michiyo Okui, Colette Rossier, Manuela Hancock,
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
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Specific BACE1 Genotypes Provide Additional Risk for Late-Onset Alzheimer Disease in APOE 4 Carriers.
Gabriel Gold, Jean-Louis
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Fokstuen S, Antonarakis SE, Blouin JL (2003) FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. Am J Med Genet 117A:143-6
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