Works matching IS 10184813 AND DT 1999 AND VI 7 AND IP 7

Results: 16

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 757, doi. 10.1038/sj.ejhg.5200368

By:

Hirokawa, Hidetetsu;
Okano, Yoshiyuki;
Asada, Minoru;
Fujimoto, Akie;
Suyama, Itsujin;
Isshiki, Gen

Publication type:

Article

Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactions.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 791, doi. 10.1038/sj.ejhg.5200369

By:

Hollox, Edward J;
Poulter, Mark;
Wang, Yangxi;
Krause, Amanda;
Swallow, Dallas M

Publication type:

Article

Revised exon–intron structure of human JAK3 locus.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 837, doi. 10.1038/sj.ejhg.5200375

By:

Brooimans, Rik A;
van der Slot, Annemarie J;
van den Berg, Adriënne JAM;
Zegers, Ben JM

Publication type:

Article

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 778, doi. 10.1038/sj.ejhg.5200363

By:

Genuardi, Maurizio;
Carrara, Stefania;
Anti, Marcello;
Ponz de Leòn, Maurizio;
Viel, Alessandra

Publication type:

Article

Psoriasis susceptibility locus in chromosome region 3q21 identified in patients from southwest Sweden.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 783, doi. 10.1038/sj.ejhg.5200365

By:

Enlund, Fredrik;
Samuelsson, Lena;
Enerbäck, Charlotta;
Inerot, Annica;
Wahlström, Jan;
Yhr, Maria;
Torinsson, Åsa;
Riley, John;
Swanbeck, Gunnar;
Martinsson, Tommy

Publication type:

Article

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 801, doi. 10.1038/sj.ejhg.5200373

By:

Duijn, Cornelia M van;
Cruts, Marc;
Theuns, Jessie;
Van Gassen, Geert;
Backhovens, Hubert;
van den Broeck, Marleen;
Wehnert, Anita;
Serneels, Sally;
Hofman, Albert;
Van Broeckhoven, Christine

Publication type:

Article

Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 765, doi. 10.1038/sj.ejhg.5200370

By:

Eraslan, Serpil;
Kayserili, Hülya;
Apak, Memnune Yüksel;
Kirdar, Betül

Publication type:

Article

BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 833, doi. 10.1038/sj.ejhg.5200371

By:

Gershoni-Baruch, Ruth;
Dagan, Efrat;
Fried, Getta;
Kepten, Ilana;
Robinson, Eliezer

Publication type:

Article

A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 841, doi. 10.1038/sj.ejhg.5200372

By:

Pang, Joanna;
Allotey, Rebecca;
Wadia, Noshir;
Sasaki, Hidenao;
Bindoff, Laurence;
Chamberlain, Susan

Publication type:

Article

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 828, doi. 10.1038/sj.ejhg.5200376

By:

Ahmad, Wasim;
De Fusco, Maurizio;
Faiyaz ul Haque, Muhammad;
Aridon, Paolo;
Sarno, Tiziana;
Sohail, Muhammad;
ul Haque, Sayed;
Ahmad, Mahmud;
Ballabio, Andrea;
Franco, Brunella;
Casari, Giorgio

Publication type:

Article

Analysis of FMR1 (CGG)<sub>n</sub> alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 771, doi. 10.1038/sj.ejhg.5200374

By:

Larsen, Lars Allan;
Armstrong, Judith SM;
Grønskov, Karen;
Hjalgrim, Helle;
Brøndum-Nielsen, Karen;
Hasholt, Lis;
Nørgaard-Pedersen, Bent;
Vuust, Jens

Publication type:

Article

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 807, doi. 10.1038/sj.ejhg.5200377

By:

Martin, Sam;
Richards, Allan J;
Yates, John RW;
Scott, John D;
Pope, Michael;
Snead, Martin P

Publication type:

Article

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 748, doi. 10.1038/sj.ejhg.5200378

By:

Bartsch, Oliver;
Wagner, Annett;
Hinkel, Georg K;
Krebs, Petra;
Stumm, Markus;
Schmalenberger, Bernhard;
Böhm, Sabine;
Balci, Sevim;
Majewski, Frank

Publication type:

Article

Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 821, doi. 10.1038/sj.ejhg.5200381

By:

O'Dell, Sandra D;
Bujac, Sarah R;
Miller, George J;
Day, Ian NM

Publication type:

Article

The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 815, doi. 10.1038/sj.ejhg.5200385

By:

Roberts, Emma;
Jackson, Andrew P;
Carradice, Abigail C;
Deeble, V Jayne;
Mannan, Jovaria;
Rashid, Yasmin;
Jafri, Hussain;
McHale, Duncan P;
Markham, Alex F;
Lench, Nicholas J;
Woods, C Geoffrey

Publication type:

Article

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 737, doi. 10.1038/sj.ejhg.5200396

By:

Tassabehji, Mayada;
Carette, Martin;
Wilmot, Carrie;
Donnai, Dian;
Read, Andrew P;
Metcalfe, Kay

Publication type:

Article