Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 6

Results: 25

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy(Communicated by Arnold Munnich)Online Citation: Human Mutation, Mutation in Brief #623 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/623.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 656, doi. 10.1002/humu.9152

By:

Olivier Baris;
Cécile Delettre;
Patrizia Amati-Bonneau;
Marie-Odile Surget;
Jean-François Charlin;
Antoine Catier;
Laurence Derieux;
Jean-Laurent Guyomard;
Hélène Dollfus;
Philippe Jonveaux;
Carmen Ayuso;
Irene Maumenee;
Birgit Lorenz;
Shehla Mohammed;
Yves Tourmen;
Dominique Bonneau;
Yves Malthièry;
Christian Hamel;
Pascal Reynier

Publication type:

Article

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #622 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/622.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 655, doi. 10.1002/humu.9151

By:

Marina De Rosa;
Maria I. Scarano;
Luigi Panariello;
Gemma Morelli;
Gabriele Riegler;
Giovanni B. Rossi;
Alfonso Tempesta;
Giovanni Romano;
Andrea Renda;
Guido Pettinato;
Paola Izzo

Publication type:

Article

Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #621 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/621.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 655, doi. 10.1002/humu.9150

By:

Maria Concetta Fargnoli;
Sergio Chimenti;
Gisela Keller;
Heinz Höfler;
Ketty Peris

Publication type:

Article

A Novel PTPN11 mutation in LEOPARD syndrome(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #620 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/620.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 654, doi. 10.1002/humu.9149

By:

E. Conti;
T. Dottorini;
A. Sarkozy;
G. E. Tiller

Publication type:

Article

Characterisation of a 161 kb deletion extending from the NBR1 to the BRCA1 genes in a French breast-ovarian cancer family(Communicated by Richard G.H. Cotton)Online Citation: Human Mutation, Mutation in Brief #619 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/619.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 654, doi. 10.1002/humu.9148

By:

Sophie Gad;
Ivan Bièche;
Michel Barrois;
Federica Casilli;
Sabine Pages-Berhouet;
Catherine Dehainault;
Marion Gauthier-Villars;
Aaron Bensimon;
Alain Aurias;
Rosette Lidereau;
Brigitte Bressac-de Paillerets;
Mario Tosi;
Sylvie Mazoyer

Publication type:

Article

Single nucleotide polymorphisms and haplotype frequencies of CYP3A5 in a Japanese population(Communicated by Michael Dean)Online Citation: Human Mutation, Mutation in Brief #618 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/618.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 653, doi. 10.1002/humu.9147

By:

Mayumi Saeki;
Yoshiro Saito;
Takahiro Nakamura;
Norie Murayama;
Su-Ryang Kim;
Shogo Ozawa;
Kazuo Komamura;
Kazuyuki Ueno;
Shiro Kamakura;
Toshiharu Nakajima;
Hirohisa Saito;
Yutaka Kitamura;
Naoyuki Kamatani

Publication type:

Article

Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #617 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/617.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 652, doi. 10.1002/humu.9146

By:

Lyoung Hyo Kim;
Hyoung Doo Shin;
Byung Lae Park;
Ji Hyun Jung;
Jun Yeun Kim;
Yoon Jun Kim;
Hyo-Suk Lee

Publication type:

Article

Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations(Communicated by Vladislav Baranov)Online Citation: Human Mutation, Mutation in Brief #616 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/616.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 652, doi. 10.1002/humu.9145

By:

Masahiro Sasaki;
Yuichiro Tanaka;
Masanori Kaneuchi;
Noriaki Sakuragi;
Rajvir Dahiya

Publication type:

Article

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease(Communicated by Christine Van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #615 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/615.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9144

By:

Eric Schulze-Bahr;
Lars Eckardt;
Günter Breithardt;
Karlheinz Seidl;
Thomas Wichter;
Christian Wolpert;
Martin Borggrefe;
Wilhelm Haverkamp

Publication type:

Article

Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #614 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/614.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9143

By:

Kristin Becker;
Stephanie A. Robb;
Zandra Hatton;
Shu Ching Yau;
Stephen Abbs;
Roland G. Roberts

Publication type:

Article

Incorrect headers and abstracts in Human Mutation, Volume 21, Issue 1, January 2003.

Published in:: Human Mutation, 2003, v. 21, n. 6, p. 650, doi. 10.1002/humu.10229
Publication type:: Article

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy(Communicated by Henrik Dahl).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 582, doi. 10.1002/humu.10225

By:

Paule Bénit;
Réjane Beugnot;
Dominique Chretien;
Irina Giurgea;
Pascale De Lonlay-Debeney;
Jean-Paul Issartel;
Marisol Corral-Debrinski;
Stefan Kerscher;
Pierre Rustin;
Agnès Rötig;
Arnold Munnich

Publication type:

Article

Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH(Communicated by Peter Byers).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 569, doi. 10.1002/humu.10223

By:

Jochen Reiss;
Jean L. Johnson

Publication type:

Article

A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7(Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 645, doi. 10.1002/humu.10222

By:

Mathew W. Moore;
Lisa G. Dietz;
Budi Tirtorahardjo

Publication type:

Article

A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity(Communicated by Andreas Gal).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 630, doi. 10.1002/humu.10220

By:

P. Jagiello;
C. Hammans;
S. Wieczorek;
L. Arning;
A. Stefanski;
H. Strehl;
J.T. Epplen;
M. Gencik

Publication type:

Article

An ABCA4 genomic deletion in patients with Stargardt disease(Communicated by Haig H. Kazazian, Jr.).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 636, doi. 10.1002/humu.10219

By:

Alexander N. Yatsenko

Publication type:

Article

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy(Communicated by Jacques S. Beckmann).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 615, doi. 10.1002/humu.10217

By:

Lieve Claes;
Berten Ceulemans;
Dominique Audenaert;
Katrien Smets;
Ann Löfgren;
Jurgen Del-Favero;
Sirpa Ala-Mello;
Lina Basel-Vanagaite;
Barbara Plecko;
Salmo Raskin;
Paul Thiry;
Nicole I. Wolf;
Christine Van Broeckhoven

Publication type:

Article

Mutation analysis in patients with N-acetylglutamate synthase deficiency(Communicated by Andreas Gal).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 593

By:

Johannes Häberle;
Eva Schmidt;
Silke Pauli;
Joachim Gerhard Kreuder;
Barbara Plecko;
Axel Galler;
Benedicht Wermuth;
Erik Harms;
Hans Georg Koch

Publication type:

Article

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay(Communicated by Paolo Fortina).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 622, doi. 10.1002/humu.10215

By:

Alessia Colosimo;
Valentina Guida;
Luciana Rigoli;
Chiara Di Bella;
Alessandro De Luca;
Silvana Briuglia;
Liborio Stuppia;
Damiano Carmelo Salpietro

Publication type:

Article

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy(Communicated by Jean-Louis Mandel).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 608, doi. 10.1002/humu.10214

By:

Sylvie Tuffery-Giraud;
Céline Saquet;
Sylvie Chambert;
Mireille Claustres

Publication type:

Article

Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations and polymorphisms(Communicated by Edward G.D. Tuddenham).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 557, doi. 10.1002/humu.10213

By:

Paula J. Bray;
Richard G.H. Cotton

Publication type:

Article

Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update(Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 577, doi. 10.1002/humu.10212

By:

Peter D. Stenson;
Edward V. Ball;
Matthew Mort;
Andrew D. Phillips;
Jacqueline A. Shiel;
Nick S.T. Thomas;
Shaun Abeysinghe;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to β-subunit mutations(Communicated by William S. Sly).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 598, doi. 10.1002/humu.10211

By:

Ute Spiekerkoetter;
Bin Sun;
Zaza Khuchua;
Michael J. Bennett;
Arnold W. Strauss

Publication type:

Article

Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency(Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 649

By:

Johannes Häberle;
Hans Georg Koch

Publication type:

Article

Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide(Communicated by Andreas Gal).

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 587, doi. 10.1002/humu.10209

By:

Toshiyuki Fukao;
Naoki Matsuo;
Gai Xiu Zhang;
Rintaro Urasawa;
Tetsuo Kubo;
Yoshinori Kohno;
Naomi Kondo

Publication type:

Article