Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 1

Results: 19

First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: Identification of a loss-of-function variant (Communicated by Richard G.H. Cotton) Online Citation: Human Mutation, Mutation in Brief #682 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/682.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 101, doi. 10.1002/humu.9211

By:

Christelle Cauffiez;
Jean-Marc Lo-Guidice;
Dany Chevalier;
Delphine Allorge;
Rima Hamdan;
Michel Lhermitte;
Jean-Jacques Lafitte;
Jean-Frédéric Colombel;
Christian Libersa;
Franck Broly

Publication type:

Article

Variants in TNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infection (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #680 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/680.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9209

By:

Gangqiao Zhou;
Yun Zhai;
Xiaojia Dong;
Ya Li;
Xiumei Zhang;
Ruifang Zhang;
Shuqing Li;
Xuhong Li;
Fengying He;
Handong Wei;
Xiaoping Chen;
Zhijian Yao;
Yan Shen;
Boqing Qiang

Publication type:

Article

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus (Communicated by Stylianos Antonarakis) Online Citation: Human Mutation, Mutation in Brief #676 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/676.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 98, doi. 10.1002/humu.9205

By:

S.M. Sauter;
W. Engel;
L.M. Neumann;
J. Kunze;
J. Neesen

Publication type:

Article

Large deletions in the polycystic kidney disease 1 (PKD1) gene (Communicated by Martin Bobrow) Online Citation: Human Mutation, Mutation in Brief #679 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/679.pdf).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9208

By:

Yavuz Ariyurek;
Irma Lantinga-van Leeuwen;
Lia Spruit;
David Ravine;
Martijn H. Breuning;
Dorien J.M. Peters

Publication type:

Article

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy (Communicated by Peter Byers) Online Citation: Human Mutation, Mutation in Brief #678 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/678.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 99, doi. 10.1002/humu.9207

By:

Andrew Biggin

Publication type:

Article

Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency (Communicated by Edward Tuddenham) Online Citation: Human Mutation, Mutation in Brief #677 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/677.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 98, doi. 10.1002/humu.9206

By:

Flora Peyvandi;
Liliana Tagliabue;
Marzia Menegatti;
Mehran Karimi;
Istvan Komáromi;
Éva Katona;
Laszlo Muszbek;
Pier Mannuccio Mannucci

Publication type:

Article

Haplotypes of CYP3A4 and their close linkage with CYP3A5 haplotypes in a Japanese population (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #681 (2003) Online http://www.interscience.wiley.com/homepages/38515/pdf/mutation/681.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 100, doi. 10.1002/humu.9210

By:

Hiromi Fukushima-Uesaka;
Yoshiro Saito;
Hidemi Watanabe;
Kisho Shiseki;
Mayumi Saeki;
Takahiro Nakamura;
Kouichi Kurose;
Kimie Sai;
Kazuo Komamura;
Kazuyuki Ueno;
Shiro Kamakura;
Masafumi Kitakaze;
Sotaro Hanai;
Toshiharu Nakajima;
Kenji Matsumoto;
Hirohisa Saito;
Yu-ichi Goto;
Hideo Kimura;
Masaaki Katoh;
Kenji Sugai

Publication type:

Article

Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location (Communicated by Gregg L. Semenza).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 40, doi. 10.1002/humu.10302

By:

Jodi K. Maranchie;
Anoushka Afonso;
Paul S. Albert;
Sivaram Kalyandrug;
John L. Phillips;
Shubo Zhou;
James Peterson;
Bijan M. Ghadimi;
Katheen Hurley;
Joseph Riss;
James R. Vasselli;
Thomas Ried;
Berton Zbar;
Peter Choyke;
McClellan M. Walther;
Richard D. Klausner;
W. Marston Linehan

Publication type:

Article

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA) (Communicated by Ulf Landegren).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 17, doi. 10.1002/humu.10300

By:

Liesbeth Rooms;
Edwin Reyniers;
Rob van Luijk;
Stefaan Scheers;
Jan Wauters;
Berten Ceulemans;
Jenneke Van Den Ende;
Yolande Van Bever;
R. Frank Kooy

Publication type:

Article

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency (Communicated by David Rimoin).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 85, doi. 10.1002/humu.10297

By:

Marilyn M. Gordon;
Nancy Brada;
Angel Remacha;
Isabel Badell;
Elisabeth del Río;
Montserrat Baiget;
René Santer;
Edward V. Quadros;
Sheldon P. Rothenberg;
David H. Alpers

Publication type:

Article

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (Communicated by Ulf Landegren).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 57, doi. 10.1002/humu.10283

By:

Robert M.W. Hofstra;
Inge M. Mulder;
Rolf Vossen;
Pia A. M. de Koning-Gans;
Marian Kraak;
Ieke B. Ginjaar;
Annemarie H. van der Hout;
Egbert Bakker;
Charles H.C.M. Buys;
Gert-Jan B. van Ommen;
Anthonie J. van Essen;
Johan T. den Dunnen

Publication type:

Article

Allelic genes of blood group antigens: A source of human mutations and cSNPs documented in the Blood Group Antigen Gene Mutation Database (Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 8, doi. 10.1002/humu.10296

By:

Olga O. Blumenfeld;
Santosh K. Patnaik

Publication type:

Article

Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 67, doi. 10.1002/humu.10295

By:

Laura Eng;
Gabriela Coutinho;
Shareef Nahas;
Gene Yeo;
Robert Tanouye;
Mahnoush Babaei;
Thilo Dörk;
Christopher Burge;
Richard A. Gatti

Publication type:

Article

Pyrosequencing-based SNP allele frequency estimation in DNA pools (Communicated by Ann-Christine Syvanen).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 92, doi. 10.1002/humu.10292

By:

Catharina Lavebratt;
Selim Sengul;
Marten Jansson;
Martin Schalling

Publication type:

Article

VSD: A database for schizophrenia candidate genes focusing on variations (Communicated by Jaime Cuticchia).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 1, doi. 10.1002/humu.10289

By:

Min Zhou;
Yong-Long Zhuang;
Qi Xu;
Yan-Da Li

Publication type:

Article

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotypephenotype correlation in glycogen storage disease type II (Communicated by Elizabeth Neufeld).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 47, doi. 10.1002/humu.10286

By:

Monique M.P. Hermans;
Dik van Leenen;
Marian A. Kroos;
Clare E. Beesley;
Ans T. Van der Ploeg;
Hitoshi Sakuraba;
Ron Wevers;
Wim Kleijer;
Helen Michelakakis;
Edwin P. Kirk;
Janice Fletcher;
Nils Bosshard;
Lina Basel-Vanagaite;
Guy Besley;
Arnold J.J. Reuser

Publication type:

Article

Interaction between trypsinogen isoforms in genetically determined pancreatitis: Mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) (Communicated by Mireille Claustres).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 22, doi. 10.1002/humu.10285

By:

Niels Teich;
Cédric Le Maréchal;
Zoltán Kukor;
Karel Caca;
Helmut Witzigmann;
Jian-Min Chen;
Miklós Tóth;
Joachim Mössner;
Volker Keim;
Claude Férec;
Miklós Sahin-Tóth

Publication type:

Article

Knobloch syndrome: Novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin (Communicated by Peter Byers).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 77, doi. 10.1002/humu.10284

By:

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;
Michel Guipponi

Publication type:

Article

Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression (Communicated by Georgia Chenevix-Trench).

Published in:

Human Mutation, 2004, v. 23, n. 1, p. 32, doi. 10.1002/humu.10278

By:

Susan Pattison;
Michael Pankarican;
C. Anthony Rupar

Publication type:

Article