Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 5

Results: 38

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #608 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/608.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9137

By:

Mustafa Tekin;
Türker Duman;
Gönül Boğoçlu;
Armağan İncesulu;
Elif Çomak;
İnci Ilhan;
Nejat Akar

Publication type:

Article

Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese population (Communicated by Christopher G. Mathew) Online Citation: Human Mutation, Mutation in Brief #613 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/613.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 555, doi. 10.1002/humu.9142

By:

Hiroshi Yagasaki;
Tsukasa Oda;
Daiki Adachi;
Toshiaki Nakajima;
Tatsutoshi Nakahata;
Shigetaka Asano;
Takayuki Yamashita

Publication type:

Article

ATM gene alterations in childhood acute lymphoblastic leukemias (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #611 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/611.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9140

By:

Fabienne Gumy Pause;
Pierre Wacker;
Philippe Maillet;
David Betts;
André-Pascal Sappino

Publication type:

Article

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #609 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138

By:

Barbara M. van der Sluijs;
Baziel G.M. van Engelen;
Lies H. Hoefsloot

Publication type:

Article

Molecular variation of human HSP90&agr; and HSP90β genes in Caucasians (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #612 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/612.pdf).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9141

By:

Giuseppe Passarino;
Gianpiero L. Cavalleri1;
Rosalia Stecconi;
Claudio Franceschi;
Katia Altomare;
Serena Dato;
Valentina Greco;
L. Luca Cavalli Sforza;
Peter A. Underhill;
Giovanna de Benedictis

Publication type:

Article

Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome (Communicated by Sergio Ottolenghi).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 529, doi. 10.1002/humu.10183

By:

Eugenia Borgione;
Maurizio Sturnio;
Angela Spalletta;
Maria Angela Lo Giudice;
Lucia Castiglia;
Ornella Galesi;
Angela Ragusa;
Marco Fichera

Publication type:

Article

BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #610 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/610.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9139

By:

Magdalena Perkowska;
Izabela BroŻek;
Barbara Wysocka;
Karin Haraldsson;
Therese Sandberg;
Ulla Johansson;
Gunilla Sellberg;
Ake Borg;
Janusz Limon

Publication type:

Article

Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese populationCommunicated by Christopher G. MathewOnline Citation: Human Mutation, Mutation in Brief #613 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/613.pdf

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 555, doi. 10.1002/humu.9142

By:

Hiroshi Yagasaki;
Tsukasa Oda;
Daiki Adachi;
Toshiaki Nakajima;
Tatsutoshi Nakahata;
Shigetaka Asano;
Takayuki Yamashita

Publication type:

Article

Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening (Communicated by Mireille Claustres).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 455, doi. 10.1002/humu.10169

By:

Paal Skytt Andersen;
Cathrine Jespersgaard;
Jens Vuust;
Michael Christiansen;
Lars Allan Larsen

Publication type:

Article

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype (Communicated by Jacques S. Beckmann).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 473, doi. 10.1002/humu.10170

By:

Jean-Christophe Charniot;
Cécile Pascal;
Christiane Bouchier;
Pascale Sébillon;
Jeffrey Salama;
Laëtitia Duboscq-Bidot;
Mireille Peuchmaurd;
Michel Desnos;
Jean-Yves Artigou

Publication type:

Article

A Novel mutation L619F in the cardiac Na<sup>+</sup> channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #607(2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/607.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9136

By:

Xander H.T. Wehrens;
Tom Rossenbacker;
Roselie J. Jongbloed;
Marc Gewillig;
Hein Heidbüchel;
Pieter A. Doevendans;
Marc A. Vos;
Hein J.J. Wellens;
Robert S. Kass

Publication type:

Article

Germline TP53 Mutations and Li-Fraumeni Syndrome.

Published in:

2003

By:

J.M. Varley

Publication type:

Erratum

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 502, doi. 10.1002/humu.10207

By:

Carla A. Teixeira;
Janice Espinola;
Liang Huo;
Johannes Kohlschütter;
Dixie-Ann Persaud Sawin;
Berge Minassian;
Carlos J. P. Bessa;
A. Guimarães;
Dietrich A. Stephan;
Maria Clara Sá Miranda;
Marcy E. MacDonald;
Maria Gil Ribeiro;
Rose-Mary N. Boustany

Publication type:

Article

Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer (Communicated by Albert de la Chapelle).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 542

By:

Jonine L. Bernstein;
Sharon Teraoka;
Robert W. Haile;
Anne-Lise Børresen-Dale;
Barry S. Rosenstein;
Richard A. Gatti;
Anh T. Diep;
Laila Jansen;
David P. Atencio;
Jørgen H. Olsen;
Leslie Bernstein;
Susan L. Teitelbaum;
W. Douglas Thompson;
Patrick Concannon

Publication type:

Article

IVS106T>G, an ancient ATM germline mutation linked with breast cancer (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 521, doi. 10.1002/humu.10204

By:

Annegien Broeks;
Jos H. M. Urbanus;
Peter de Knijff;
Peter Devilee;
Marion Nicke;
Karin Klöpper;
Thilo Dörk;
Arno N. Floore;
Laura J. van't Veer

Publication type:

Article

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia (Communicated by Mireille Claustres).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 482, doi. 10.1002/humu.10203

By:

Urszula Cymerman;
Sonia Vera;
Amna Karabegovic;
Salma Abdalla;
Michelle Letarte

Publication type:

Article

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency (Communicated by Michel Goossens).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 493, doi. 10.1002/humu.10201

By:

Laure Thuillier;
Hidayeth Rostane;
Veronique Droin;
France Demaugre;
Michèle Brivet;
Noman Kadhom;
Carina Prip-Buus;
Stéphanie Gobin;
Jean-Marie Saudubray

Publication type:

Article

RettBASE: The IRSA MECP2 variation databasea new mutation database in evolution (Communicated by Jaime Cuticchia).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194

By:

John Christodoulou;
Andrew Grimm;
Tony Maher

Publication type:

Article

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation (Communicated by Jan P. Kraus).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 509, doi. 10.1002/humu.10193

By:

Sahar Sibani;
Daniel Leclerc;
Ilan S. Weisberg;
Erin O'Ferrall;
David Watkins;
Carmen Artigas

Publication type:

Article

Detection of hotspot mutations and polymorphisms using an enhanced PCR-RFLP approach (Communicated by Graham Taylor).

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 535, doi. 10.1002/humu.10184

By:

W.H. Liu;
M. Kaur;
G.M. Makrigiorgos

Publication type:

Article

Molecular variation of human HSP90α and HSP90β genes in CaucasiansCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #612 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/612.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9141

By:

Giuseppe Passarino;
Gianpiero L. Cavalleri1;
Rosalia Stecconi;
Claudio Franceschi;
Katia Altomare;
Serena Dato;
Valentina Greco;
L. Luca Cavalli Sforza;
Peter A. Underhill;
Giovanna de Benedictis

Publication type:

Article

IVS10–6T>G, an ancient ATM germline mutation linked with breast cancerCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 521, doi. 10.1002/humu.10204

By:

Annegien Broeks;
Jos H. M. Urbanus;
Peter de Knijff;
Peter Devilee;
Marion Nicke;
Karin Klöpper;
Thilo Dörk;
Arno N. Floore;
Laura J. van't Veer

Publication type:

Article

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasiaCommunicated by Mireille Claustres.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 482, doi. 10.1002/humu.10203

By:

Urszula Cymerman;
Sonia Vera;
Amna Karabegovic;
Salma Abdalla;
Michelle Letarte

Publication type:

Article

ATM gene alterations in childhood acute lymphoblastic leukemiasCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #611 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/611.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 554, doi. 10.1002/humu.9140

By:

Fabienne Gumy Pause;
Pierre Wacker;
Philippe Maillet;
David Betts;
André‐Pascal Sappino

Publication type:

Article

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolutionCommunicated by Jaime Cuticchia.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 466, doi. 10.1002/humu.10194

By:

John Christodoulou;
Andrew Grimm;
Tony Maher;
Bruce Bennetts

Publication type:

Article

BRCA1 and BRCA2 mutation analysis in breast‐ovarian cancer families from northeastern PolandCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #610 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/610.pdf

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9139

By:

Magdalena Perkowska;
Izabela BroŻek;
Barbara Wysocka;
Karin Haraldsson;
Therese Sandberg;
Ulla Johansson;
Gunilla Sellberg;
Ake Borg;
Janusz Limon

Publication type:

Article

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 geneCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #609 (2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/609.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 553, doi. 10.1002/humu.9138

By:

Barbara M. van der Sluijs;
Baziel G.M. van Engelen;
Lies H. Hoefsloot

Publication type:

Article

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative matingCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #608 (2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/608.pdf

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9137

By:

Mustafa Tekin;
Türker Duman;
Gönül Boğoçlu;
Armağan İncesulu;
Elif Çomak;
İnci Ilhan;
Nejat Akar

Publication type:

Article

A Novel mutation L619F in the cardiac Na+ channel SCN5A associated with long‐QT syndrome (LQT3): a role for the I‐II linker in inactivation gatingCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #607(2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/607.pdf

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9136

By:

Xander H.T. Wehrens;
Tom Rossenbacker;
Roselie J. Jongbloed;
Marc Gewillig;
Hein Heidbüchel;
Pieter A. Doevendans;
Marc A. Vos;
Hein J.J. Wellens;
Robert S. Kass

Publication type:

Article

Germline TP53 Mutations and Li‐Fraumeni Syndrome.

Published in:

2003

By:

J.M. Varley

Publication type:

Erratum

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosisCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 502, doi. 10.1002/humu.10207

By:

Carla A. Teixeira;
Janice Espinola;
Liang Huo;
Johannes Kohlschütter;
Dixie‐Ann Persaud Sawin;
Berge Minassian;
Carlos J. P. Bessa;
A. Guimarães;
Dietrich A. Stephan;
Maria Clara Sá Miranda;
Marcy E. MacDonald;
Maria Gil Ribeiro;
Rose‐Mary N. Boustany

Publication type:

Article

Designing and implementing quality control for multi‐center screening of mutations in the ATM gene among women with breast cancerCommunicated by Albert de la Chapelle.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 542

By:

Jonine L. Bernstein;
Sharon Teraoka;
Robert W. Haile;
Anne‐Lise Børresen‐Dale;
Barry S. Rosenstein;
Richard A. Gatti;
Anh T. Diep;
Laila Jansen;
David P. Atencio;
Jørgen H. Olsen;
Leslie Bernstein;
Susan L. Teitelbaum;
W. Douglas Thompson;
Patrick Concannon

Publication type:

Article

Detection of hotspot mutations and polymorphisms using an enhanced PCR‐RFLP approachCommunicated by Graham Taylor.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 535, doi. 10.1002/humu.10184

By:

W.H. Liu;
M. Kaur;
G.M. Makrigiorgos

Publication type:

Article

Functional consequences of an LMNA mutation associated with a new cardiac and non‐cardiac phenotypeCommunicated by Jacques S. Beckmann.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 473

By:

Jean‐Christophe Charniot;
Cécile Pascal;
Christiane Bouchier;
Pascale Sébillon;
Jeffrey Salama;
Laëtitia Duboscq‐Bidot;
Mireille Peuchmaurd;
Michel Desnos;
Jean‐Yves Artigou;
Michel Komajda

Publication type:

Article

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyCommunicated by Michel Goossens.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 493, doi. 10.1002/humu.10201

By:

Laure Thuillier;
Hidayeth Rostane;
Veronique Droin;
France Demaugre;
Michèle Brivet;
Noman Kadhom;
Carina Prip‐Buus;
Stéphanie Gobin;
Jean‐Marie Saudubray;
Jean‐Paul Bonnefont

Publication type:

Article

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD‐responsive mutationCommunicated by Jan P. Kraus.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 509, doi. 10.1002/humu.10193

By:

Sahar Sibani;
Daniel Leclerc;
Ilan S. Weisberg;
Erin O'Ferrall;
David Watkins;
Carmen Artigas;
David S. Rosenblatt;
Rima Rozen

Publication type:

Article

Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndromeCommunicated by Sergio Ottolenghi.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 529, doi. 10.1002/humu.10183

By:

Eugenia Borgione;
Maurizio Sturnio;
Angela Spalletta;
Maria Angela Lo Giudice;
Lucia Castiglia;
Ornella Galesi;
Angela Ragusa;
Marco Fichera

Publication type:

Article

Capillary electrophoresis‐based single strand DNA conformation analysis in high‐throughput mutation screeningCommunicated by Mireille Claustres.

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 455, doi. 10.1002/humu.10169

By:

Paal Skytt Andersen;
Cathrine Jespersgaard;
Jens Vuust;
Michael Christiansen;
Lars Allan Larsen

Publication type:

Article