Works matching IS 10597794 AND DT 2002 AND VI 20 AND IP 6

Results: 24

Determination of β2-adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assay.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 479, doi. 10.1002/humu.9091

By:

Littlejohn, Mathew D.;
Taylor, D. Robin;
Miller, Allison L.;
Kennedy, Martin A.

Publication type:

Article

BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 474, doi. 10.1002/humu.9084

By:

Ruiz-Flores, Pablo;
Sinilnikova, Olga M.;
Badzioch, Michael;
Calderon-Garcidueñas, A.L.;
Chopin, Sandrine;
Fabrice, Odefrey;
González-Guerrero, J.F.;
Szabo, Csilla;
Lenoir, Gilbert;
Goldgar, David E.;
Barrera-Saldaña, Hugo A.

Publication type:

Article

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 452, doi. 10.1002/humu.10144

By:

Cuscó, Ivon;
Barceló, María J.;
Baiget, Montserrat;
Tizzano, Eduardo F.

Publication type:

Article

DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 481, doi. 10.1002/humu.9095

By:

Heritage, Mandy L.;
MacMillan, John C.;
Anderson, Gregory J.

Publication type:

Article

Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 477, doi. 10.1002/humu.9088

By:

Terzioglu, Mugen;
Tokatli, Aysegul;
Coskun, Turgay;
Emre, Serap

Publication type:

Article

GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 478, doi. 10.1002/humu.9090

By:

Cao, Henian;
Shorey, Sanam;
Robinson, John;
Metzger, Daniel L.;
Stewart, Laura;
Cummings, Elizabeth;
Hegele, Robert A.

Publication type:

Article

BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 474, doi. 10.1002/humu.9083

By:

Zhi, Xiangcheng;
Szabo, Csilla;
Chopin, Sandrine;
Suter, Nicola;
Wang, Qing-Sheng;
Ostrander, Elaine A.;
Sinilnikova, Olga M.;
Lenoir, Gilbert M.;
Goldgar, David;
Shi, Yu-Rong

Publication type:

Article

Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 463, doi. 10.1002/humu.10143

By:

Nebert, Daniel W.

Publication type:

Article

Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9094

By:

Okoh, Michael P.;
Kainulainen, Leena;
Heiskanen, Kaarina;
Isa, M. Nizam;
Varming, Kim;
Ruuskanen, Olli;
Vihinen, Mauno

Publication type:

Article

Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 413, doi. 10.1002/humu.10154

By:

Liede, Alexander;
Narod, Steven A.

Publication type:

Article

Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 460, doi. 10.1002/humu.10136

By:

Sodha, Nayanta;
Houlston, Richard S.;
Bullock, Sarah;
Yuille, Martin A.;
Chu, Carol;
Turner, Gwen;
Eeles, Rosalind A.

Publication type:

Article

A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 477, doi. 10.1002/humu.9087

By:

Castillo, S.;
Reyes, G.;
Tejedor, D.;
Mozas, P.;
Suarez, Y.;
Lasuncion, M.A.;
Cenarro, A.;
Civeira, F.;
Alonso, R.;
Mata, P.;
Pocovi, M.

Publication type:

Article

BRCA1 and BRCA2 in Indian breast cancer patients.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 473, doi. 10.1002/humu.9082

By:

Saxena, Sunita;
Szabo, Csilla I.;
Chopin, Sandrine;
Barjhoux, Laure;
Sinilnikova, Olga;
Lenoir, Gilbert;
Goldgar, David E.;
Bhatanager, Dinesh

Publication type:

Article

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 447, doi. 10.1002/humu.10142

By:

Spiekerkoetter, Ute;
Eeds, Angela;
Yue, Zou;
Haines, Jonathan;
Strauss, Arnold W.;
Summar, Marshall

Publication type:

Article

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9093

By:

Lucchiari, S.;
Donati, M.A.;
Parini, R.;
Melis, D.;
Gatti, R.;
Bresolin, N.;
Scarlato, G.;
Comi, G.P.

Publication type:

Article

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 476, doi. 10.1002/humu.9086

By:

Paloma, Eva;
Coco, Rosa;
Martínez-Mir, Amalia;
Vilageliu, Lluïsa;
Balcells, Susana;
Gonzàlez-Duarte, Roser

Publication type:

Article

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 482, doi. 10.1002/humu.9097

By:

Hermos, Christina R.;
Huizing, Marjan;
Kaiser-Kupfer, Muriel I.;
Gahl, William A.

Publication type:

Article

SLC26A3 mutations in congenital chloride diarrhea.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 425, doi. 10.1002/humu.10139

By:

Mäkelä, Siru;
Kere, Juha;
Holmberg, Christer;
Höglund, Pia

Publication type:

Article

D90A- SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 473, doi. 10.1002/humu.9081

By:

Parton, Matthew J.;
Broom, Wendy;
Andersen, Peter M.;
Al-Chalabi, Ammar;
Nigel Leigh, P.;
Powell, John F.;
Shaw, Christopher E.

Publication type:

Article

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 439, doi. 10.1002/humu.10141

By:

Kalatzis, Vasiliki;
Cohen-Solal, Lola;
Cordier, Béatrice;
Frishberg, Yaacov;
Kemper, Markus;
Nuutinen, E. Matti;
Legrand, Eric;
Cochat, Pierre;
Antignac, Corinne

Publication type:

Article

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 479, doi. 10.1002/humu.9092

By:

Michels-Rautenstrauss, Karin;
Mardin, Christian;
Wakili, Nina;
Jünemann, Anselm M.;
Villalobos, Luis;
Mejia, Carlos;
Soley, Gabriela Chavarria;
Azofeifa, Jorge;
Özbey, Sevinc;
Naumann, Gottfried OH;
Reis, Andre;
Rautenstrauss, Bernd

Publication type:

Article

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 481, doi. 10.1002/humu.9096

By:

Michelson, Piret;
Hartwig, Christine;
Schachner, Melitta;
Gal, Andreas;
Veske, Andres;
Finckh, Ulrich

Publication type:

Article

A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 478, doi. 10.1002/humu.9089

By:

Linnebank, M.;
Homberger, A.;
Nowak-Göttl, U.;
Koch, H. G.

Publication type:

Article

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Published in:

Human Mutation, 2002, v. 20, n. 6, p. 475, doi. 10.1002/humu.9085

By:

Liu, Wenling;
Yang, Junguo;
Hu, Dayi;
Kang, Cailian;
Li, Cuilan;
Zhang, Shuoyan;
Li, Ping;
Chen, Zhijian;
Qin, Xuguang;
Ying, Kang;
Li, Yuntian;
Li, Yushu;
Li, Zhiming;
Cheng, Xin;
Li, Lei;
Qi, Yu;
Chen, Shenghan;
Wang, Qing

Publication type:

Article