Works matching IS 03406717 AND DT 2003 AND VI 112 AND IP 1

Results: 19

January 2003.

Published in:: Human Genetics, 2003, v. 112, n. 1, p. 103
Publication type:: Article

Common variations in noncoding regions of the human natriuretic peptide receptor A gene have quantitative effects.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 62, doi. 10.1007/s00439-002-0834-z

By:

Knowles, Joshua W.;
Erickson, Laurie M.;
Guy, Vanessa K.;
Sigel, Carlie S.;
Wilder, Jennifer C.;
Maeda, Nobuyo

Publication type:

Article

Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 78, doi. 10.1007/s00439-002-0844-x

By:

Shirahama, Shuya;
Miyahara, Akira;
Kitoh, Hiroshi;
Honda, Akira;
Kawase, Akihiko;
Yamada, Koki;
Mabuchi, Akihiko;
Kura, Hideji;
Yokoyama, Yasunobu;
Tsutsumi, Masayoshi;
Ikeda, Toshiyuki;
Tanaka, Naomi;
Nishimura, Gen;
Ohashi, Hirofumi;
Ikegawa, Shiro

Publication type:

Article

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28–29.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 24, doi. 10.1007/s00439-002-0836-x

By:

Modamio-Høybjør, Silvia;
Moreno-Pelayo, Miguel;
Mencía, Angeles;
del Castillo, Ignacio;
Chardenoux, Sebastian;
Armenta, Daniel;
Lathrop, Mark;
Petit, Christine;
Moreno, Felipe

Publication type:

Article

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 42, doi. 10.1007/s00439-002-0832-1

By:

Freson, Kathleen;
Thys, Chantal;
Wittewrongel, Christine;
Vermylen, Jos;
Hoylaerts, Marc F.;
Van Geet, Chris

Publication type:

Article

January 2003.

Published in:: Human Genetics, 2003, v. 112, n. 1, p. 104
Publication type:: Article

Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 71, doi. 10.1007/s00439-002-0837-9

By:

Hansen, Jens J.;
Bross, Peter;
Westergaard, Majken;
Nielsen, Marit;
Eiberg, Hans;
Børglum, Anders D.;
Mogensen, Jens;
Kristiansen, Karsten;
Bolund, Lars;
Gregersen, Niels

Publication type:

Article

Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 34, doi. 10.1007/s00439-002-0851-y

By:

Speckman, Rebecca A.;
Wright Daw, Jil A.;
Helms, Cynthia;
Duan, Shenghui;
Cao, Li;
Taillon-Miller, Patricia;
Kwok, Pui-Yan;
Menter, Alan;
Bowcock, Anne M.

Publication type:

Article

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 84, doi. 10.1007/s00439-002-0845-9

By:

Mabuchi, Akihiko;
Manabe, Noriyo;
Haga, Nobuhiko;
Kitoh, Hiroshi;
Ikeda, Toshiyuki;
Kawaji, Hiroyuki;
Tamai, Kazuya;
Hamada, Junichiro;
Nakamura, Shigeru;
Brunetti-Pierri, Nicola;
Kimizuka, Mamori;
Takatori, Yoshio;
Nakamura, Kozo;
Nishimura, Gen;
Ohashi, Hirofumi;
Ikegawa, Shiro

Publication type:

Article

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 29, doi. 10.1007/s00439-002-0843-y

By:

Niemi, Anna-Kaisa;
Hervonen, Antti;
Hurme, Mikko;
Karhunen, Pekka J.;
Jylhä, Marja;
Majamaa, Kari

Publication type:

Article

Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 1, doi. 10.1007/s00439-002-0839-7

By:

Mekus, Frauke;
Laabs, Ulrike;
Veeze, Henk;
Tümmler, Burkhard

Publication type:

Article

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 12, doi. 10.1007/s00439-002-0840-1

By:

Upadhyaya, Meena;
Majounie, Elisa;
Thompson, Peter;
Han, Song;
Consoli, Claudia;
Krawczak, Michael;
Cordeiro, Isobel;
Cooper, David N.

Publication type:

Article

Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 57, doi. 10.1007/s00439-002-0827-y

By:

Bridgland, Lindsay;
Footz, Tim K.;
Kardel, Melanie D.;
Riazi, Ali M.;
McDermid, Heather E.

Publication type:

Article

Ian N.M. Day (ed) Molecular genetic epidemiology: a laboratory perspective: Springer, Berlin Heidelberg New York, 2002.

Published in:

2003

By:

Ziegler, Andreas;
Müller-Myhsok, Bertram

Publication type:

Book Review

Surfactant protein B polymorphism and respiratory distress syndrome in premature twins.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 18, doi. 10.1007/s00439-002-0835-y

By:

Marttila, Riitta;
Haataja, Ritva;
Rämet, Mika;
Löfgren, Johan;
Hallman, Mikko

Publication type:

Article

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 50, doi. 10.1007/s00439-002-0838-8

By:

Eckl, Katja;
Stevens, Howard P.;
Lestringant, Gilles G.;
Westenberger-Treumann, Margaretha;
Traupe, Heiko;
Hinz, Britta;
Frossard, Philippe M.;
Stadler, Rudolf;
Leigh, Irene M.;
Nürnberg, Peter;
Reis, André;
Hennies, Hans

Publication type:

Article

Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 98, doi. 10.1007/s00439-002-0841-0

By:

Ericson, Kim;
Fadeel, Bengt;
Andersson, Mats;
Gudmundsson, Gudmundur H.;
Gürgey, Aytemiz;
Yalman, Nevin;
Janka, Gritta;
Nordenskjöld, Magnus;
Henter, Jan-Inge

Publication type:

Article

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Published in:

2003

By:

Yorifuji, Tohru;
Kawai, Masahiko;
Muroi, Junko;
Mamada, Mitsukazu;
Kurokawa, Keiji;
Shigematsu, Yosuke;
Hirano, Satoko;
Sakura, Nobuo;
Yoshida, Ichiro;
Kuhara, Tomiko;
Endo, Fumio;
Mitsubuchi, Hiroshi;
Nakahata, Tatsutoshi

Publication type:

Erratum

Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 91, doi. 10.1007/s00439-002-0855-7

By:

Arai, Keiko;
Nakagomi, Yoshiko;
Iketani, Mitsue;
Shimura, Yoshie;
Amemiya, Shin;
Ohyama, Kenji;
Shibasaki, Tamotsu

Publication type:

Article