Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 12

Results: 20

Alternatively spliced, truncated human BRCA2 isoforms contain a novel coding exon.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 951, doi. 10.1038/sj.ejhg.5201063

By:

Speevak, Marsha D.;
Young, Sean S.;
Feilotter, Harriet;
Peter Ainsworth, Harriet

Publication type:

Article

A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 955, doi. 10.1038/sj.ejhg.5201064

By:

Jakubowska, Anna;
Scott, Rodney;
Menkiszak, Janusz;
Gronwald, Jacek;
Byrski, Tomasz;
Huzarski, Tomasz;
Górski, Bohdan;
Cybulski, Cezary;
Dębniak, Tadeusz;
Kowalska, Elżbieta;
Starzyńska, Teresa;
Ławniczak, Małgorzata;
Narod, Steven;
Lubinski, Jan

Publication type:

Article

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 923, doi. 10.1038/sj.ejhg.5201066

By:

de Paula, Flavia;
Vieira, Natássia;
Starling, Alessandra;
Yamamoto, Lydia Uraco;
Lima, Bruno;
de Cássia Pavanello, Rita;
Vainzof, Mariz;
Nigro, Vincenzo;
Zatz, Mayana

Publication type:

Article

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7?kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 931, doi. 10.1038/sj.ejhg.5201069

By:

Ching-Shiang Chi;
Chi-Ren Tsai;
Liang-Hui Chen, Josseline;
Hsiu-Fen Lee, Josseline;
Betty Suk-Chun Mak, Josseline;
Shu-Hsuang Yang, Josseline;
Tsai-Yuh Wang, Josseline;
San-Ging Shu, Josseline;
Chao-Hui Chen, Josseline

Publication type:

Article

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

Published in:

2003

By:

Barbet, Fabienne;
Gerber, Sylvie;
Hakiki, Sélim;
Perrault, Isabelle;
Hanein, Sylvain;
Ducroq, Dominique;
Tanguy, Gaëlle;
Dufier, Jean-Louis;
Munnich, Arnold;
Rozet, Jean-Michel;
Kaplan, Josseline

Publication type:

Report

Prenatal testing for late-onset neurogenetic diseases.

Published in:

2003

By:

Helderman-van Den Enden, A T. J. M.

Publication type:

Book Review

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 937, doi. 10.1038/sj.ejhg.5201072

By:

Cason, A. Lauren;
Ikeguchi, Yoshihiko;
Skinner, Cindy;
Wood, Tim C.;
Holden, Kenton R.;
Lubs, Herbert A.;
Martinez, Francisco;
Simensen, Richard J.;
Stevenson, Roger E.;
Pegg, Anthony E.;
Schwartz, Charles E.

Publication type:

Article

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 916, doi. 10.1038/sj.ejhg.5201073

By:

Tsukamoto, Koji;
Suzuki, Hiroaki;
Harada, Daisuke;
Namba, Atsushi;
Abe, Satoko;
Usami, Shin-ichi

Publication type:

Article

No evidence for DNA copy number change associated with the DUP25 cytogenetic phenotype.

Published in:

2003

By:

Hollox, Edward J.;
Armour, John Al

Publication type:

Letter

Recurrent triploidy of maternal origin.

Published in:

2003

By:

Brancati, Francesco;
Mingarelli, Rita;
Dallapiccola, Bruno

Publication type:

Report

Gene-gene interaction between the monoamine oxidase A gene and solute carrier family 6 (neurotransmitter transporter, noradrenalin) member 2 gene in anorexia nervosa (restrictive subtype).

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 945, doi. 10.1038/sj.ejhg.5201077

By:

Urwin, Ruth E.;
Bennetts, Bruce H.;
Wilcken, Bridget;
Lampropoulos, Basiliki;
Beumont, Peter J. V.;
Russell, Janice D.;
Tanner, Sue L.;
Nunn, Kenneth P.

Publication type:

Article

Problems in detecting mosaic DNA methylation in Angelman syndrome.

Published in:

2003

By:

Horsthemke, Bernhard

Publication type:

Letter

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 959, doi. 10.1038/sj.ejhg.5201079

By:

Real, José T.;
Chaves, Felipe J.;
Ejarque, Ismael;
Garc&iacite'a-García, Ana B.;
Valldecabres, Carmen;
Ascaso, Juan F.;
Armengod, María E.;
Carmena, Rafael

Publication type:

Article

ESHG recommendations on key issues related to the advances in human genetics.

Published in:

2003

By:

Aymé, Ségolène

Publication type:

Editorial

Genetic information and testing in insurance and employment: technical, social and ethical issues.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 909, doi. 10.1038/sj.ejhg.5201104

By:

Ayme, S.

Publication type:

Article

Population genetic screening programmes: technical, social and ethical issues.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 903, doi. 10.1038/sj.ejhg.5201105

By:

Ayme, S.

Publication type:

Article

Provision of genetic services in Europe: current practices and issues.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 900, doi. 10.1038/sj.ejhg.5201106

By:

Ayme, S.

Publication type:

Article

Data storage and DNA banking for biomedical research: technical, social and ethical issues.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 12, p. 906, doi. 10.1038/sj.ejhg.5201107

By:

Ayme, S.

Publication type:

Article

Author Index to Volume 11.

Published in:: 2003
Publication type:: Other

Keyword Index to Volume 11.

Published in:: 2003
Publication type:: Other