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51

Genetic analysis workshop IV: The 11p data sets

Deborah A. Meyers, Terri H. Beaty, Stylianos E. Antonarakis, Haig H. Kazazian Jr., Ray White

Journal:

Genetic Epidemiology

Year:

1986

Language:

english

File:

PDF, 159 KB

english, 1986

52

Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome

Doron Gothelf, Fumiko Hoeft, Christine Hinard, Joachim F. Hallmayer, John Van Dover Stoecker, Stylianos E. Antonarakis, Michael A. Morris, Allan L. Reiss

Journal:

Human Brain Mapping

Year:

2007

Language:

english

File:

PDF, 288 KB

english, 2007

53

Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis

Journal:

Year:

2002

File:

PDF, 46 KB

2002

54

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg

Andreas Weinhaeusel, Michael A. Morris, Stylianos E. Antonarakis, Oskar A. Haas

Journal:

Year:

2003

Language:

english

File:

PDF, 181 KB

english, 2003

55

Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

Olivier Menzel, Reidunn C.J. Bekkeheien, Alexandre Reymond, Naomi Fukai, Eileen Boye, Gyorgy Kosztolanyi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjorn R. Olsen, Stylianos E. Antonarakis, Mich

Journal:

Year:

2004

Language:

english

File:

PDF, 345 KB

english, 2004

56

APECED mutations in the autoimmune regulator (AIRE) gene

Maarit Heino, Pärt Peterson, Jun Kudoh, Nobuyoshi Shimizu, Stylianos E. Antonarakis, Hamish S. Scott, Kai Krohn

Journal:

Year:

2001

Language:

english

File:

PDF, 336 KB

english, 2001

57

Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes

Haiming Chen, William Lowther, Dimitrios Avramopoulos, Stylianos E. Antonarakis

Journal:

Year:

1994

Language:

english

File:

PDF, 359 KB

english, 1994

58

Discussion on mutation nomenclature

R. G. H. Cotton, H. H. Kazazian, Stylianos E. Antonarakis, Victor A. McKusick

Journal:

Year:

1994

Language:

english

File:

PDF, 98 KB

english, 1994

59

Molecular etiology of factor VIII deficiency in hemophilia A

Stylianos E. Antonarakis, Haig H. Kazazian, Edward G. D. Tuddenham

Journal:

Year:

1995

Language:

english

File:

PDF, 1.50 MB

english, 1995

60

A response to Suzuki et al. “How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?”

Stylianos E. Antonarakis, Alexandre Reymond, Olivier Menzel, Reidunn CJ Bekkeheien, Naomi Fukai, Eileen Boye, Gyorgy Kosztolanyi, Salim Aftimos, Samuel Deutsch, Hamish S. Scott, Bjorn R. Olsen, Michel

Journal:

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

61

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

Marie Wattenhofer, Alexandre Reymond, Véronique Falciola, Anne Charollais, Dorothée Caille, Christelle Borel, Robert Lyle, Xavier Estivill, Michael B. Petersen, Paolo Meda, Stylianos E. Antonarakis

Journal:

Year:

2005

Language:

english

File:

PDF, 416 KB

english, 2005

62

Down Syndrome-Hirschsprung Linked through RET Enhancer

Stylianos Antonarakis

Journal:

Year:

2009

Language:

english

File:

PDF, 71 KB

english, 2009

63

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation

Karen Bedard, Homa Attar, Jérôme Bonnefont, Vincent Jaquet, Christelle Borel, Olivier Plastre, Marie-José Stasia, Stylianos E. Antonarakis, Karl-Heinz Krause

Journal:

Year:

2009

Language:

english

File:

PDF, 302 KB

english, 2009

64

Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres

Randal X. Moldrich, Luce Dauphinot, Julien Laffaire, Tania Vitalis, Yann Hérault, Philip M. Beart, Jean Rossier, Denis Vivien, Corinne Gehrig, Stylianos E. Antonarakis, Robert Lyle, Marie-Claude Potie

Journal:

Journal of Neuroscience Research

Year:

2009

Language:

english

File:

PDF, 200 KB

english, 2009

65

APECED: a monogenic autoimmune disease providing new clues to self-tolerance

Pärt Peterson, Kentaro Nagamine, Hamish Scott, Maarit Heino, Jun Kudoh, Nobuyoshi Shimizu, Stylianos E. Antonarakis, Kai J.E. Krohn

Journal:

Immunology Today

Year:

1998

Language:

english

File:

PDF, 124 KB

english, 1998

66

Apolipoprotein A1 Baltimore (Arg10→Leu), a new ApoA1 variant

John A. A. Ladias, Peter O. Kwiterovich, Hazel H. Smith, Sotirios K. Karathanasis, Stylianos E. Antonarakis

Journal:

Year:

1990

Language:

english

File:

PDF, 939 KB

english, 1990

67

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)ndinucleotide repeat

Michael B. Petersen, James L. Weber, Susan A. Slaugenhaupt, Anne E. Kwitek, Melvin G. McInnis, Aravinda Chakravarti, Stylianos E. Antonarakis

Journal:

Year:

1991

Language:

english

File:

PDF, 402 KB

english, 1991

68

DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels

Camilla Heizmann, Todd Kirchgessner, Peter O. Kwiterovich, John A. Ladias, Carol Derby, Stylianos E. Antonarakis, Aldons J. Lusis

Journal:

Year:

1991

Language:

english

File:

PDF, 910 KB

english, 1991

69

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q

Clair A. Francomano, Garry R. Cutting, Mary Kay McCormick, Mon Li Chu, Rupert Timpl, Hee Kyung Hong, Stylianos E. Antonarakis

Journal:

Year:

1991

Language:

english

File:

PDF, 765 KB

english, 1991

70

MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population

Hiroshi Inaba, Michio Fujimaki, Haig H. Kazazian, Stylianos E. Antonarakis

Journal:

Year:

1990

Language:

english

File:

PDF, 112 KB

english, 1990

71

Linkage mapping of the cystathionine β-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region

Dimitrios Avramopoulos, Tara Cox, Jan P. Kraus, Aravinda Chakravarti, Stylianos E. Antonarakis

Journal:

Year:

1993

Language:

english

File:

PDF, 240 KB

english, 1993

72

Highly polymorphic repeat marker within the β-amyloid precursor protein gene

Stefania Zappata, Michael B. Petersen, Ulrich König, Jillian Blaschak, Arvinda Chakravarti, Flora Tassone, Angelo Serra, Stylianos E. Antonarakis, Christina Brahe

Journal:

Year:

1994

Language:

english

File:

PDF, 192 KB

english, 1994

73

D21S210: A highly polymorphic (GT)n marker closely linked to the β-amyloid protein precursor (APP) gene

Andrew C. Warren, Melvin G. McInnis, Marianna Kalaitsidaki, Tara K. Cox, Jillian Blaschak, Aravinda Chakravarti, Stylianos E. Antonarakis

Journal:

Year:

1993

Language:

english

File:

PDF, 187 KB

english, 1993

74

The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

Shangzhi Huang, Corinne Wong, Stylianos E. Antonarakis, Tsai Ro-lien, Wilson H. Y. Lo, Haig H. Kazazian

Journal:

Year:

1986

Language:

english

File:

PDF, 271 KB

english, 1986

75

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Hiroshi Inaba, Michio Fujimaki, Haig H. Kazazian, Stylianos E. Antonarakis

Journal:

Year:

1989

Language:

english

File:

PDF, 508 KB

english, 1989

76

DNA polymorphism and molecular pathology of the human globin gene clusters

Stylianos E. Antonarakis, Haig H. Kazazian, Stuart H. Orkin

Journal:

Year:

1985

Language:

english

File:

PDF, 1.32 MB

english, 1985

77

DNA polymorphism and molecular pathology of the human globin gene clusters

Stylianos E. Antonarakis, Haig H. Kazazian, Stuart H. Orkin

Journal:

Year:

1985

Language:

english

File:

PDF, 508 KB

english, 1985

78

Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A

Hagop Youssoufian, Carol K. Kasper, Deborah G. Phillips, Haig H. Kazazian, Stylianos E. Antonarakis

Journal:

Year:

1988

Language:

english

File:

PDF, 572 KB

english, 1988

79

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21

Isabel Lorda-Sanchez, Michael B. Petersen, Franz Binkert, Marco Maechler, Werner Schmid, Patricia A. Adelsberger, Stylianos E. Antonarakis, Albert Schinzel

Journal:

Year:

1991

Language:

english

File:

PDF, 341 KB

english, 1991

80

DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

Stylianos E. Antonarakis, Peter Oettgen, Aravinda Chakravarti, Susan L. Halloran, Richard R. Hudson, Lila Feisee, Sotirios K. Karathanasis

Journal:

Year:

1988

Language:

english

File:

PDF, 1006 KB

english, 1988

81

Functional genetic variation of human miRNAs and phenotypic consequences

Christelle Borel, Stylianos E. Antonarakis

Journal:

Mammalian Genome

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

82

Characterization of mouseDactylaplasiamutations: a model for human ectrodactyly SHFM3

Marc Friedli, Sergey Nikolaev, Robert Lyle, Mélanie Arcangeli, Denis Duboule, François Spitz, Stylianos E. Antonarakis

Journal:

Mammalian Genome

Year:

2008

Language:

english

File:

PDF, 344 KB

english, 2008

83

Peutz–Jeghers LKB1 mutants fail to activate GSK-3β, preventing it from inhibiting Wnt signaling

Nathalie Lin-Marq, Christelle Borel, Stylianos E. Antonarakis

Journal:

Molecular Genetics and Genomics

Year:

2005

Language:

english

File:

PDF, 486 KB

english, 2005

84

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors

Ariane Paoloni-Giacobino, Claudine Rey-Berthod, Alexia Couturier, Stylianos E. Antonarakis, Pierre Hutter

Journal:

Year:

2002

Language:

english

File:

PDF, 50 KB

english, 2002

85

Genomic structure of a copy of the human TPTE gene which encompasses 87

Michel Guipponi, Marie-Laure Yaspo, Lisa Riesselman, Haiming Chen, Albertina De Sario, Gérard Roizès, Stylianos E. Antonarakis

Journal:

Year:

2000

Language:

english

File:

PDF, 97 KB

english, 2000

86

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

M. Nadal, M. Milà, Melanie Pritchard, Antonio Mur, Josep Pujals, Jean-Louis Blouin, Stylianos E. Antonarakis, Francesca Ballesta, X. Estivill

Journal:

Year:

1996

Language:

english

File:

PDF, 250 KB

english, 1996

87

Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2–q22.3

Haiming Chen, Constantin Bouras, Stylianos E. Antonarakis

Journal:

Year:

1996

Language:

english

File:

PDF, 160 KB

english, 1996

88

Localisation of a human homologue of theDrosophila mnband ratDyrkgenes to chromosome 21q22.2

Haiming Chen, Stylianos E. Antonarakis

Journal:

Year:

1997

Language:

english

File:

PDF, 112 KB

english, 1997

89

Isolation of a human gene (HES1) with homology to anEscherichia coliand a zebrafish protein that maps to chromosome 21q22.3

H. S. Scott, Haiming Chen, Colette Rossier, Maria D. Lalioti, Stylianos E. Antonarakis

Journal:

Year:

1997

Language:

english

File:

PDF, 205 KB

english, 1997

90

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15

Lauréane Mittaz, Stylianos E. Antonarakis, Miyoko Higuchi, H. S. Scott

Journal:

Year:

1997

Language:

english

File:

PDF, 37 KB

english, 1997

91

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

O. Bartsch, Georg K. Hinkel, Michael B. Petersen, Ulrich König, Merete Bugge, Margareta Mikkelsen, Dimitris Avramopoulos, Michael Morris, Stylianos E. Antonarakis

Journal:

Year:

1997

Language:

english

File:

PDF, 488 KB

english, 1997

92

The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family

Michel Guipponi, Caroline Tapparel, Olivier Jousson, Nathalie Scamuffa, Christophe Mas, Colette Rossier, Pierre Hutter, Paolo Meda, Robert Lyle, Alexandre Reymond, Stylianos E. Antonarakis

Journal:

Year:

2001

Language:

english

File:

PDF, 241 KB

english, 2001

93

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

Orkin, Stuart H., Kazazian, Haig H., Antonarakis, Stylianos E., Goff, Sabra C., Boehm, Corinne D., Sexton, Julianne P., Waber, Pamela G., Giardina, Patricia J. V.

Journal:

Year:

1982

File:

PDF, 558 KB

1982

94

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Youssoufian, Hagop, Kazazian, Haig H., Phillips, Deborah G., Aronis, Sophia, Tsiftis, George, Brown, Valerie A., Antonarakis, Stylianos E.

Journal:

Year:

1986

File:

PDF, 341 KB

1986

95

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

Kazazian, Haig H., Wong, Corinne, Youssoufian, Hagop, Scott, Alan F., Phillips, Deborah G., Antonarakis, Stylianos E.

Journal:

Year:

1988

File:

PDF, 345 KB

1988

96

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Cutting, Garry R., Kasch, Laura M., Rosenstein, Beryl J., Zielenski, Julian, Tsui, Lap-Chee, Antonarakis, Stylianos E., Kazazian Jr, Haig H.

Journal:

Year:

1990

File:

PDF, 469 KB

1990

97

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Lalioti, Maria D., Scott, Hamish S., Buresi, Catherine, Rossier, Colette, Bottani, Armand, Morris, Michael A., Malafosse, Alain, Antonarakis, Stylianos E.

Journal:

Year:

1997

File:

PDF, 2.07 MB

1997

98

10.1038/450

Antonarakis, Stylianos, Van Aelst, Linda

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 97 KB

english, 1998

99

10.1038/75497

Antonarakis, Stylianos E., McKusick, Victor A.

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 112 KB

english, 2000

100

10.1038/83768

Antonarakis, Stylianos E., Scott, Hamish S., Kudoh, Jun, Wattenhofer, Marie, Shibuya, Kazunori, Berry, Asher, Chrast, Roman, Guipponi, Michel, Wang, Jun, Kawasaki, Kazuhiko, Asakawa, Shuichi, Minoshim

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 425 KB

english, 2001