Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 1

Results: 40

The molecular basis of glutamate formiminotransferase deficiency (Communicated by R. Garry Cutting).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236

By:

John F. Hilton;
Karen E. Christensen;
David Watkins;
Benjamin A. Raby;
Yannick Renaud;
Susanna de la Luna;
Xavier Estivill;
Robert E. MacKenzie

Publication type:

Article

The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relativesCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #627 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/627.pdf

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9156

By:

Zhen Hu;
Jiong Wu;
Can‐Hui Liu;
Jing‐Song Lu;
Jian‐Ming Luo;
Qi‐Xia Han;
Zhen‐Zhou Shen;
Zhi‐Ming Shao

Publication type:

Article

Denaturing HPLC analysis of DNA deletions and insertions (Communicated by Peter Oefner).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 98, doi. 10.1002/humu.10234

By:

Laura Cremonesi;
Stefania Stenirri;
Isabella Fermo;
Rita Paroni;
Maurizio Ferrari;
Mario Cazzola;
Paolo Arosio

Publication type:

Article

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotypephenotype correlation in 38 classical citrullinemia patients (Communicated by Nobuyoshi Shimizu).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 24, doi. 10.1002/humu.10230

By:

Hong-Zhi Gao;
Susan Zeesman;
Ina Knerr;
Margarita Rodés;
Pornswan Wasant;
Ichiro Yoshida;
Linda De Meirleir;
Md. Abdul Jalil;
Laila Begum;
Masahisa Horiuchi;
Nobuhiko Katunuma;
Shiro Nakagawa;
Takeyori Saheki

Publication type:

Article

Prion susceptibility and protective alleles exhibit marked geographic differencesCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #628 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/628.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9157

By:

Marta Soldevila;
Francesc Calafell;
Aida M. Andrés;
Jordi Yagüe;
Agnar Helgason;
Kári Stefánsson;
Jaume Bertranpetit

Publication type:

Article

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #630 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/630.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9159

By:

M. Spentchian;
S. E. Holder;
S-A. Ivarsson;
D. Kostiner;
S. Mansour;
A. Norman;
J. Roth;
F. Stipoljev;
J-L. Taillemite;
J. J. van der Smagt;
J-L. Serre;
B. Simon-Bouy;
A. Taillandier

Publication type:

Article

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #629 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158

By:

Virginie Scotet;
David E. Barton;
James B.G. Watson;
Marie-Pierre Audrézet;
Trudi McDevitt;
Shirley McQuaid;
Cathy Shortt;
Marc De Braekeleer;
Claude Férec;
Cédric Le Maréchal

Publication type:

Article

Prion susceptibility and protective alleles exhibit marked geographic differences (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #628 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/628.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9157

By:

Marta Soldevila;
Francesc Calafell;
Aida M. Andrés;
Jordi Yagüe;
Agnar Helgason;
Kári Stefánsson;
Jaume Bertranpetit

Publication type:

Article

The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #627 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/627.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9156

By:

Zhen Hu;
Jiong Wu;
Can-Hui Liu;
Jing-Song Lu;
Jian-Ming Luo;
Qi-Xia Han;
Zhen-Zhou Shen;
Zhi-Ming Shao

Publication type:

Article

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia (Online Citation: Human Mutation, Mutation in Brief #626 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/626.pdf) Communicated by Mark H. Paalman)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9155

By:

Alessandra Tessa;
Sergio Salvi;
Carlo Casali;
Livia Garavelli;
M. Cristina Digilio;
M. Teresa Dotti;
Silvia Di Giandomenico;
Manuela Valoppi;
Gaetano S. Grieco;
Giovanna Comanducci;
Giacomo Bianchini;
Daniela Fortini;
Antonio Federico;
Aldo Giannotti;
Filippo M. Santorelli

Publication type:

Article

Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method (Communicated by Arupa Ganguly) Online Citation: Human Mutation, Mutation in Brief #625 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/625.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9154

By:

Wera Hofmann;
Heike Görgens;
Anika John;
Denise Horn;
Christine Hüttner;
Norbert Arnold;
Siegfried Scherneck;
Hans K. Schackert

Publication type:

Article

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S (Communicated by Jan Kraus) Online Citation: Human Mutation, Mutation in Brief #624 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/624.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9153

By:

Roser Urreizti;
Susana Balcells;
Marga Rodés;
Laura Vilarinho;
Antonio Baldellou;
María Luz Couce;
Carmen Muñoz;
Jaume Campistol;
Xavier Pintó;
María Antonia Vilaseca;
Daniel Grinberg

Publication type:

Article

Epigenetic detection of human chromosome 14 uniparental disomy (Communicated by Haig H. Kazazian).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 92, doi. 10.1002/humu.10237

By:

S.K. Murphy;
A.A. Wylie;
K.J. Coveler;
P.D. Cotter;
P.R. Papenhausen;
V.R. Sutton;
L.G. Shaffer;
R.L. Jirtle

Publication type:

Article

A phylogenetic approach to assessing the significance of missense mutations in disease genes (Communicated by David N. Cooper).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 51

By:

M.F. Santibáñez Koref;
R. Gangeswaran;
I.P. Santibáñez Koref;
N. Shanahan

Publication type:

Article

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B (Communicated by Iain McIntosh).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 1, doi. 10.1002/humu.10233

By:

Ali R. Afzal;
Steve Jeffery

Publication type:

Article

Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate (Communicated by Jacques S. Beckmann).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 43, doi. 10.1002/humu.10232

By:

Midori Mitui;
Catarina Campbell;
Gabriela Coutinho;
Xia Sun;
Chih-Hung Lai;
Yvonne Thorstenson;
Sergi Castellvi-Bel;
Luis Fernandez;
Eugenia Monros;
Beatriz Tavares Costa Carvalho;
Oscar Porras;
Gumersindo Fontan;
Richard A. Gatti

Publication type:

Article

Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assay (Communicated by Michael Dean).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 59, doi. 10.1002/humu.10231

By:

Vanessa M. Hayes

Publication type:

Article

Enhanced allele-specific PCR discrimination in SNP genotyping using 3' locked nucleic acid (LNA) primers (Communicated by Ulf Landegren).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 79, doi. 10.1002/humu.10228

By:

David Latorra;
Krista Campbell;
Andreas Wolter;
J. Michael Hurley

Publication type:

Article

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (Communicated by Elizabeth F. Neufeld) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/22/v22.35.html)

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 35, doi. 10.1002/humu.10227

By:

Julie D. Sharp;
Ruth B. Wheeler;
Keith A. Parker;
R. Mark Gardiner;
Ruth E. Williams;
Sara E. Mole

Publication type:

Article

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 12, doi. 10.1002/humu.10226

By:

Rikke K.J. Olsen;
Brage S. Andresen;
Ernst Christensen;
Peter Bross;
Flemming Skovby;
Niels Gregersen

Publication type:

Article

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1 (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 86, doi. 10.1002/humu.10224

By:

M.C. Southey;
A. Tesoriero;
M.A. Young;
A. J. Holloway;
M.A. Jenkins;
J. Whitty;
S. Misfud;
kConFab;
S.A. McLachlan

Publication type:

Article

Determination of SMN1 and SMN2 copy number using TaqMan technology (Communicated by Graham Taylor).

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221

By:

Dirk Anhuf;
Thomas Eggermann;
Sabine Rudnik-Schöneborn;
Klaus Zerres

Publication type:

Article

Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #630 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/630.pdf.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9159

By:

M. Spentchian;
Y. Merrien;
M. Herasse;
Z. Dobbie;
D. Gläser;
S. E. Holder;
S‐A. Ivarsson;
D. Kostiner;
S. Mansour;
A. Norman;
J. Roth;
F. Stipoljev;
J‐L. Taillemite;
J. J. van der Smagt;
J‐L. Serre;
B. Simon‐Bouy;
A. Taillandier;
E. Mornet

Publication type:

Article

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and IrelandCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #629 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158

By:

Virginie Scotet;
David E. Barton;
James B.G. Watson;
Marie‐Pierre Audrézet;
Trudi McDevitt;
Shirley McQuaid;
Cathy Shortt;
Marc De Braekeleer;
Claude Férec;
Cédric Le Maréchal

Publication type:

Article

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaOnline Citation: Human Mutation, Mutation in Brief #626 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/626.pdfCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9155

By:

Alessandra Tessa;
Sergio Salvi;
Carlo Casali;
Livia Garavelli;
M. Cristina Digilio;
M. Teresa Dotti;
Silvia Di Giandomenico;
Manuela Valoppi;
Gaetano S. Grieco;
Giovanna Comanducci;
Giacomo Bianchini;
Daniela Fortini;
Antonio Federico;
Aldo Giannotti;
Filippo M. Santorelli

Publication type:

Article

Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi‐quantitative multiplex PCR methodCommunicated by Arupa GangulyOnline Citation: Human Mutation, Mutation in Brief #625 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/625.pdf

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9154

By:

Wera Hofmann;
Heike Görgens;
Anika John;
Denise Horn;
Christine Hüttner;
Norbert Arnold;
Siegfried Scherneck;
Hans K. Schackert

Publication type:

Article

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307SCommunicated by Jan KrausOnline Citation: Human Mutation, Mutation in Brief #624 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/624.pdf

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9153

By:

Roser Urreizti;
Susana Balcells;
Marga Rodés;
Laura Vilarinho;
Antonio Baldellou;
María Luz Couce;
Carmen Muñoz;
Jaume Campistol;
Xavier Pintó;
María Antonia Vilaseca;
Daniel Grinberg

Publication type:

Article

The molecular basis of glutamate formiminotransferase deficiencyCommunicated by R. Garry Cutting.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236

By:

John F. Hilton;
Karen E. Christensen;
David Watkins;
Benjamin A. Raby;
Yannick Renaud;
Susanna de la Luna;
Xavier Estivill;
Robert E. MacKenzie;
Thomas J. Hudson;
David S. Rosenblatt

Publication type:

Article

Epigenetic detection of human chromosome 14 uniparental disomyCommunicated by Haig H. Kazazian.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 92, doi. 10.1002/humu.10237

By:

S.K. Murphy;
A.A. Wylie;
K.J. Coveler;
P.D. Cotter;
P.R. Papenhausen;
V.R. Sutton;
L.G. Shaffer;
R.L. Jirtle

Publication type:

Article

A phylogenetic approach to assessing the significance of missense mutations in disease genesCommunicated by David N. Cooper.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 51

By:

M.F. Santibáñez Koref;
R. Gangeswaran;
I.P. Santibáñez Koref;
N. Shanahan;
J.M. Hancock

Publication type:

Article

Denaturing HPLC analysis of DNA deletions and insertionsCommunicated by Peter Oefner.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 98, doi. 10.1002/humu.10234

By:

Laura Cremonesi;
Stefania Stenirri;
Isabella Fermo;
Rita Paroni;
Maurizio Ferrari;
Mario Cazzola;
Paolo Arosio

Publication type:

Article

One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type BCommunicated by Iain McIntosh.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 1, doi. 10.1002/humu.10233

By:

Ali R. Afzal;
Steve Jeffery

Publication type:

Article

Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rateCommunicated by Jacques S. Beckmann.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 43, doi. 10.1002/humu.10232

By:

Midori Mitui;
Catarina Campbell;
Gabriela Coutinho;
Xia Sun;
Chih‐Hung Lai;
Yvonne Thorstenson;
Sergi Castellvi‐Bel;
Luis Fernandez;
Eugenia Monros;
Beatriz Tavares Costa Carvalho;
Oscar Porras;
Gumersindo Fontan;
Richard A. Gatti

Publication type:

Article

Genetic diversity of the alpha‐1‐antitrypsin gene in Africans identified using a novel genotyping assayCommunicated by Michael Dean.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 59, doi. 10.1002/humu.10231

By:

Vanessa M. Hayes

Publication type:

Article

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patientsCommunicated by Nobuyoshi Shimizu.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 24, doi. 10.1002/humu.10230

By:

Hong‐Zhi Gao;
Keiko Kobayashi;
Ayako Tabata;
Hideaki Tsuge;
Mikio Iijima;
Tomotsugu Yasuda;
H. Serap Kalkanoglu;
Ali Dursun;
Aysegul Tokatli;
Turgay Coskun;
Friedrich K. Trefz;
Daniela Skladal;
Hanna Mandel;
Joerg Seidel;
Soichi Kodama;
Seiko Shirane;
Takafumi Ichida;
Shigeru Makino;
Makoto Yoshino;
Jong‐Hon Kang

Publication type:

Article

Enhanced allele‐specific PCR discrimination in SNP genotyping using 3′ locked nucleic acid (LNA) primersCommunicated by Ulf Landegren.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 79, doi. 10.1002/humu.10228

By:

David Latorra;
Krista Campbell;
Andreas Wolter;
J. Michael Hurley

Publication type:

Article

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosisCommunicated by Elizabeth F. NeufeldThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/22/v22.35.html

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 35, doi. 10.1002/humu.10227

By:

Julie D. Sharp;
Ruth B. Wheeler;
Keith A. Parker;
R. Mark Gardiner;
Ruth E. Williams;
Sara E. Mole

Publication type:

Article

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiencyCommunicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 12, doi. 10.1002/humu.10226

By:

Rikke K.J. Olsen;
Brage S. Andresen;
Ernst Christensen;
Peter Bross;
Flemming Skovby;
Niels Gregersen

Publication type:

Article

A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1Communicated by Mark H. Paalman.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 86, doi. 10.1002/humu.10224

By:

M.C. Southey;
A. Tesoriero;
M.A. Young;
A. J. Holloway;
M.A. Jenkins;
J. Whitty;
S. Misfud;
kConFab;
S.A. McLachlan;
D.J. Venter;
J.E. Armes

Publication type:

Article

Determination of SMN1 and SMN2 copy number using TaqMan™ technologyCommunicated by Graham Taylor.

Published in:

Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221

By:

Dirk Anhuf;
Thomas Eggermann;
Sabine Rudnik‐Schöneborn;
Klaus Zerres

Publication type:

Article