Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 3

Results: 32

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #646 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175

By:

Carina M. Rivolta;
Sebastián A. Esperante;
Laura Gruñeiro-Papendieck;
Ana Chiesa;
Christian M. Moya;
Sabina Domené;
Viviana Varela;
Héctor M. Targovnik

Publication type:

Article

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs (Communicated by Garry R. Cutting) Online Citation: Human Mutation, Mutation in Brief #644 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/644.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9173

By:

Genoveva Keyeux;
Clemencia Rodas;
Thierry Bienvenu;
Pilar Garavito;
Dominique Vidaud;
Dora Sanchez;
Jean-Claude Kaplan;
Gustavo Aristizábal

Publication type:

Article

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany (Communicated by Dvorah Abeliovich ) Online Citation: Human Mutation, Mutation in Brief #645 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/645.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9174

By:

Peter Meyer;
Theda Voigtlaender;
Claus R. Bartram;
Ruediger Klaes

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (Communicated by Robert Desnick) Online Citation: Human Mutation, Mutation in Brief #643 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez-Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques (Communicated by Daniel Schorderet) Online Citation: Human Mutation, Mutation in Brief #642 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/642.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258, doi. 10.1002/humu.9171

By:

Hidewaki Nakagawa;
Heather Hampel;
Albert de la Chapelle

Publication type:

Article

Negligible validation rate for public domain stop?codon SNPsCommunicated by Richard G. H. CottonThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 252, doi. 10.1002/humu.10256

By:

Sarah L. Sawyer;
Linda C. Berglind;
Anthony J. Brookes

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination?associated motifsCommunicated by Linda Tyfield.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254

By:

Shaun S. Abeysinghe;
Nadia Chuzhanova;
Michael Krawczak;
Edward V. Ball;
David N. Cooper

Publication type:

Article

Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #641 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/641.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9170

By:

Byung Lae Park;
In Kwon Han;
Ho Sa Lee;
Lyoung Hyo Kim;
Sa Jin Kim;
Hyoung Doo Shin

Publication type:

Article

Association analysis of novel TBX21 variants with asthma phenotypes (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #640 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/640.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9169

By:

Hun Taek Chung;
Lyoung Hyo Kim;
Byung Lae Park;
June Hyuk Lee;
Hae-Sim Park;
Byoung Whui Choi;
Soo-Jong Hong;
Soo Cheon Chae;
Jeong Joong Kim;
Choon-Sik Park;
Hyoung Doo Shin

Publication type:

Article

Negligible validation rate for public domain stop-codon SNPs (Communicated by Richard G. H. Cotton) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 252, doi. 10.1002/humu.10256

By:

Sarah L. Sawyer;
Linda C. Berglind;
Anthony J. Brookes

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs (Communicated by Linda Tyfield).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254

By:

Shaun S. Abeysinghe;
Nadia Chuzhanova;
Michael Krawczak;
Edward V. Ball;
David N. Cooper

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends (Communicated by Linda Tyfield).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 245, doi. 10.1002/humu.10253

By:

Nadia Chuzhanova;
Shaun S. Abeysinghe;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Trimethylaminuria and a human FMO3 mutation database (Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 209, doi. 10.1002/humu.10252

By:

Diana Hernandez;
Sarah Addou;
David Lee;
Christine Orengo;
Elizabeth A. Shephard;
Ian R. Phillips

Publication type:

Article

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients (Communicated by Pui-Yun Kwok).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 222

By:

Nitin Udar;
Vivek Yellore;
Meenal Chalukya;
Svetlana Yelchits;
Rosamaria Silva-Garcia;
Kent Small

Publication type:

Article

Genotyping African haplotypes in ATM using a co-spotted single-base extension assay (Communicated by Ann-Christine Syvanen).

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 214, doi. 10.1002/humu.10250

By:

Maneesh Jain;
Yvonne R. Thorstenson;
David M. Faulkner;
Nader Pourmand;
Ted Jones;
Melinda Au;
Peter J. Oefner;
Kevin P. White;
Ronald W. Davis

Publication type:

Article

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (Communicated by Mark H. Paalman) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html)

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 199

By:

Gwenaëlle Collod-Béroud;
James C. Hyland;
Katerine Holman;
Ilkka Kaitila;
Bart Loeys;
Gabor Matyas;
Lieve Nuytinck;
Leena Peltonen;
Terhi Rantamaki;
Peter Robinson;
Beat Steinmann;
Claudine Junien;
Christophe Béroud

Publication type:

Article

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #646 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175

By:

Carina M. Rivolta;
Sebastián A. Esperante;
Laura Gruñeiro?Papendieck;
Ana Chiesa;
Christian M. Moya;
Sabina Domené;
Viviana Varela;
Héctor M. Targovnik

Publication type:

Article

Twenty?three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern GermanyCommunicated by Dvorah Abeliovich Online Citation:Human Mutation, Mutation in Brief #645 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/645.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9174

By:

Peter Meyer;
Theda Voigtlaender;
Claus R. Bartram;
Ruediger Klaes

Publication type:

Article

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programsCommunicated by Garry R. CuttingOnline Citation:Human Mutation, Mutation in Brief #644 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/644.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9173

By:

Genoveva Keyeux;
Clemencia Rodas;
Thierry Bienvenu;
Pilar Garavito;
Dominique Vidaud;
Dora Sanchez;
Jean?Claude Kaplan;
Gustavo Aristizábal

Publication type:

Article

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous femaleCommunicated by Robert DesnickOnline Citation: Human Mutation, Mutation in Brief #643 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258

By:

Adriana Rodríguez?Marí;
M. José Coll;
Amparo Chabás

Publication type:

Article

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniquesCommunicated by Daniel SchorderetOnline Citation: Human Mutation, Mutation in Brief #642 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/642.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 258, doi. 10.1002/humu.9171

By:

Hidewaki Nakagawa;
Heather Hampel;
Albert de la Chapelle

Publication type:

Article

Identification of novel variants in transforming growth factor?beta 1 (TGFB1) gene and association analysis with bone mineral densityCommunicated by Michael DeanOnline Citation: Human Mutation, Mutation in Brief #641 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/641.pdf

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9170

By:

Byung Lae Park;
In Kwon Han;
Ho Sa Lee;
Lyoung Hyo Kim;
Sa Jin Kim;
Hyoung Doo Shin

Publication type:

Article

Association analysis of novel TBX21 variants with asthma phenotypesCommunicated by Michael DeanOnline Citation: Human Mutation, Mutation in Brief #640 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/640.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9169

By:

Hun Taek Chung;
Lyoung Hyo Kim;
Byung Lae Park;
June Hyuk Lee;
Hae?Sim Park;
Byoung Whui Choi;
Soo?Jong Hong;
Soo Cheon Chae;
Jeong Joong Kim;
Choon?Sik Park;
Hyoung Doo Shin

Publication type:

Article

ATM gene alterations in childhood acute lymphoblastic leukemias.

Published in:

2003

By:

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

Publication type:

Erratum

Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.

Published in:

2003

By:

Arleen D. Auerbach;
Jason Greenbaum;
Kanan Pujara;
Sat Dev Batish;
Marco A. Bitencourt;
Indira Kokemohr;
Hildegard Schneider;
Stephan Lobitz;
Ricardo Pasquini;
Philip F. Giampietro;
Helmut Hanenberg;
Orna Levran

Publication type:

Erratum

Standardizing mutation nomenclature: Why bother?

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 181, doi. 10.1002/humu.10262

By:

Johan T. den Dunnen;
Mark H. Paalman

Publication type:

Article

PTEN: One Gene, Many Syndromes.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 183, doi. 10.1002/humu.10257

By:

Charis Eng

Publication type:

Article

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patientsCommunicated by Pui?Yun Kwok.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 222

By:

Nitin Udar;
Vivek Yellore;
Meenal Chalukya;
Svetlana Yelchits;
Rosamaria Silva?Garcia;
Kent Small

Publication type:

Article

Genotyping African haplotypes in ATM using a co?spotted single?base extension assayCommunicated by Ann?Christine Syvanen.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 214, doi. 10.1002/humu.10250

By:

Maneesh Jain;
Yvonne R. Thorstenson;
David M. Faulkner;
Nader Pourmand;
Ted Jones;
Melinda Au;
Peter J. Oefner;
Kevin P. White;
Ronald W. Davis

Publication type:

Article

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA endsCommunicated by Linda Tyfield.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 245, doi. 10.1002/humu.10253

By:

Nadia Chuzhanova;
Shaun S. Abeysinghe;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Trimethylaminuria and a human FMO3 mutation databaseCommunicated by Richard G.H. Cotton.

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 209, doi. 10.1002/humu.10252

By:

Diana Hernandez;
Sarah Addou;
David Lee;
Christine Orengo;
Elizabeth A. Shephard;
Ian R. Phillips

Publication type:

Article

Update of the UMD?FBN1 mutation database and creation of an FBN1 polymorphism databaseCommunicated by Mark H. PaalmanThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html

Published in:

Human Mutation, 2003, v. 22, n. 3, p. 199

By:

Gwenaëlle Collod?Béroud;
Saga Le Bourdelles;
Lesley Ades;
Leena Ala?Kokko;
Patrick Booms;
Maureen Boxer;
Anne Child;
Paolo Comeglio;
Anne De Paepe;
James C. Hyland;
Katerine Holman;
Ilkka Kaitila;
Bart Loeys;
Gabor Matyas;
Lieve Nuytinck;
Leena Peltonen;
Terhi Rantamaki;
Peter Robinson;
Beat Steinmann;
Claudine Junien

Publication type:

Article