Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 6

Results: 20

NDP gene mutations in 14 French families with Norrie disease(Communicated by Andreas Gal)Online Citation: Human Mutation, Mutation in Brief #675 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/675.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 499, doi. 10.1002/humu.9204

By:

Ghislaine Royer;
Sylvain Hanein;
Valérie Raclin;
Nadine Gigarel;
Jean-Michel Rozet;
Arnold Munnich;
Julie Steffann;
Jean-Louis Dufier

Publication type:

Article

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions(Communicated by Christine van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #674 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/674.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9203

By:

Alessio Di Fonzo;
Andreina Bordoni;
Marco Crimi;
Galbiati Sara;
Roberto Del Bo;
Nereo Bresolin;
Giacomo P. Comi

Publication type:

Article

Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #673 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/673.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9202

By:

Lajos Kalmár;
András Bors;
Henriette Farkas;
Szilvia Vas;
Barbara Fandl;
Lilian Varga;
György Füst;
Attila Tordai

Publication type:

Article

Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #672 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/672.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9201

By:

Eva Gross;
Tobias Ullrich;
Katharina Seck;
Volkmar Mueller;
Maike de Wit;
Christoph von Schilling;
Alfons Meindl;
Manfred Schmitt;
Marion Kiechle

Publication type:

Article

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2(Communicated by Linda Tyfield)Online Citation: Human Mutation, Mutation in Brief #671 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/671.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 497, doi. 10.1002/humu.9200

By:

David P. Cregeen;
Emma L. Williams;
Sally Hulton;
Gill Rumsby

Publication type:

Article

Diagnostics in patients with glutathione synthetase deficiency but without mutations in the exons of the GSS gene(Communicated by Arnold Munnich)Online Citation: Human Mutation, Mutation in Brief #670 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/670.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 497, doi. 10.1002/humu.9199

By:

Runa Njålsson;
Katarina Carlsson;
Andreas Winkler;
Agne Larsson;
Svante Norgren

Publication type:

Article

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1(Communicated by Bruce Gottlieb)Online Citation: Human Mutation, Mutation in Brief #669 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/669.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 496, doi. 10.1002/humu.9198

By:

R.M. Brown;
R.A. Head;
I.I. Boubriak;
J.V. Leonard;
G.K. Brown

Publication type:

Article

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #668 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/668.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 496, doi. 10.1002/humu.9197

By:

Evelyne Colomb;
Josseline Kaplan;
Henri-Jean Garchon

Publication type:

Article

Erratum: mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations (Communicated by Nobuyoshi Shimizu)Online Citation: Human Mutation, Mutation in Brief #667 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/667.pdf)

Published in:

2003

By:

Velamakanni Saroj Kiran;
Chitra Kannabiran;
Kalyana Chakravarthi;
Geeta K. Vemuganti;
Santosh G. Honavar

Publication type:

Erratum

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.

Published in:

2003

By:

Antonio Pizzuti;
Anna Sarkozy;
Anthea L. Newton;
Emanuela Conti;
Elisabetta Flex;
Maria Cristina Digilio;
Francesca Amati;
Debora Gianni;
Caterina Tandoi;
Bruno Marino;
Merlin Crossley

Publication type:

Erratum

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Published in:

2003

By:

Roselie Jongbloed;
Carlo Marcelis;
Crool Velter;
Pieter Doevendans;
Joep Geraedts

Publication type:

Erratum

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: Identification of novel and recurrent deletions by MLPA(Communicated by Richard Cotton).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 428, doi. 10.1002/humu.10291

By:

C.F. Taylor;
R.S. Charlton;
J. Burn;
E. Sheridan

Publication type:

Article

Cystathionine β-synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype(Communicated by Jan Kraus).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 434, doi. 10.1002/humu.10290

By:

W.D. Kruger;
L. Wang;
K.H. Jhee;
R.H. Singh

Publication type:

Article

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency(Communicated by Johannes Zschocke).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 442, doi. 10.1002/humu.10288

By:

Shinjiro Akaboshi;
Boris M. Hogema;
Andrea Novelletto;
Patrizia Malaspina;
Gajja S. Salomons;
George D. Maropoulos;
Cornelis Jakobs;
Markus Grompe;
K. Michael Gibson

Publication type:

Article

Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A(Communicated by Henrik Dahl).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 457, doi. 10.1002/humu.10287

By:

Zeynep Tümer;
Lisbeth Birk Møller;
Nina Horn

Publication type:

Article

CYP2D6 genotyping strategy based on gene copy number determination by TaqMan real-rime PCR(Communicated by Pui-Yan Kwok).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 476, doi. 10.1002/humu.10280

By:

Elke Schaeffeler;
Matthias Schwab;
Michel Eichelbaum;
Ulrich M. Zanger

Publication type:

Article

Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome(Richard G. H. Cotton).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 465, doi. 10.1002/humu.10279

By:

Jian Hui Wu;
Bruce Gottlieb;
Gerald Batist;
Traian Sulea;
Enrico O. Purisima;
Lenore K. Beitel

Publication type:

Article

Fabry disease: Characterization of α-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele(Communicated by William Sly).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 486, doi. 10.1002/humu.10275

By:

Makiko Yasuda;
Junaid Shabbeer;
Stacy D. Benson;
Irene Maire;
Roger M. Burnett;
Robert J. Desnick

Publication type:

Article

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)(Communicated by Xavier Estivill).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 451

By:

Montserrat Rodríguez-Ballesteros;
Francisco J. del Castillo;
Yolanda Martín;
Miguel A. Moreno-Pelayo;
Constantino Morera;
Félix Prieto;
Jaime Marco;
Antonio Morant;
Jaime Gallo-Terán;
Carmelo Morales-Angulo;
Cristina Navas;
Germán Trinidad;
M. Cruz Tapia;
Felipe Moreno;
Ignacio del Castillo

Publication type:

Article

Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: Toward a theory of genetic modifiers(Communicated by Jürgen Horst).

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 423, doi. 10.1002/humu.10272

By:

Verena Wiest;
Ingrid Eisenbarth;
Claudia Schmegner;
Winfrid Krone;
Günter Assum

Publication type:

Article