Works matching IS 10597794 AND DT 2004 AND VI 23 AND IP 3

Results: 14

Molecular characterization of familial hypercholesterolemia in German and Greek patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #689 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/689.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 285, doi. 10.1002/humu.9218

By:

George V. Z. Dedoussis;
Janine Genschel;
Bettina Bochow;
Christos Pitsavos;
John Skoumas;
Margarita Prassa;
Sodnomtsogt Lkhagvasuren;
Pavlos Toutouzas;
Anja Vogt;
Ursula Kassner;
Hans-P. Thomas;
Hartmut Schmidt

Publication type:

Article

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype (Communicated by Iain McIntosh) Online Citation: Human Mutation, Mutation in Brief #691 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/691.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 286, doi. 10.1002/humu.9220

By:

Antonio Pizzuti;
Elisabetta Flex;
Rita Mingarelli;
Carmelo Salpietro;
Leopoldo Zelante

Publication type:

Article

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue (Communicated by Daniel Schorderet) Online Citation: Human Mutation, Mutation in Brief #688 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/688.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 285

By:

Jens Plaschke;
Stefan Krüger;
Wolfgang Dietmaier;
Johannes Gebert;
Christian Sutter;
Elisabeth Mangold;
Constanze Pagenstecher;
Elke Holinski-Feder;
Karsten Schulmann;
Gabriela Möslein;
Josef Rüschoff;
Christoph Engel;
Gareth Evans;
Hans K. Schackert

Publication type:

Article

BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia (Communicated by Mark H. Paalman) </FNR>Online Citation: Human Mutation, Mutation in Brief #690 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/690.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 286

By:

Maurilia Fiorini;
Roberta Franceschini;
Annarosa Soresina;
Richard-Fabian Schumacher;
Alberto G. Ugazio;
Paolo Rossi;
Alessandro Plebani

Publication type:

Article

A nicotine C-oxidase gene (CYP2A6) polymorphism important for promoter activity (Communicated by Bruce Gottlieb).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 258, doi. 10.1002/humu.20002

By:

Marià Pitarque;
Oliver von Richter;
Cristina Rodríguez-Antona;
Jue Wang;
Mikael Oscarson;
Magnus Ingelman-Sundberg

Publication type:

Article

Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome (Communicated by Bruce Gottlieb) Online Citation: Human Mutation, Mutation in Brief #692 (2004) Online http://www3.interscience.wiley.com/homepages/38515/pdf/mutation/692.pdf)

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 287, doi. 10.1002/humu.9221

By:

Helen E. MacLean;
Emma M.A. Ball;
Georgia Rekaris;
Garry L. Warne;
Jeffrey D. Zajac

Publication type:

Article

Gross rearrangement breakpoint database (GRaBD) (Communicated by Jamie Cuticchia).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 219, doi. 10.1002/humu.20006

By:

Shaun S. Abeysinghe;
Peter D. Stenson;
Michael Krawczak;
David N. Cooper

Publication type:

Article

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy (Communicated by Andreas Gal).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 229, doi. 10.1002/humu.10313

By:

L. Karageorgos;
P. Harmatz;
J. Simon;
A. Pollard;
P. R. Clements;
D. A. Brooks;
John J. Hopwood

Publication type:

Article

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (Communicated by Haig H. Kazazian).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 234, doi. 10.1002/humu.20004

By:

Franco Laccone;
Ivonne Jünemann;
Sharon Whatley;
Rhian Morgan;
Rachel Butler;
Peter Huppke;
David Ravine

Publication type:

Article

Noonan syndromeassociated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation (Communicated by Ian McIntosh).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 267, doi. 10.1002/humu.20005

By:

Alessandra Fragale;
Marco Tartaglia;
Jie Wu

Publication type:

Article

Molecular basis of Refsum disease: Sequence variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7) (Communicated by Johannes Zschocke).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 209, doi. 10.1002/humu.10315

By:

Gerbert A. Jansen;
Hans R. Waterham

Publication type:

Article

APECED-causing mutations in AIRE reveal the functional domains of the protein (Communicated by Michel Goossens).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 245, doi. 10.1002/humu.20003

By:

Maria Halonen;
Hannele Kangas;
Taina Rüppell;
Tanja Ilmarinen;
Juha Ollila;
Meelis Kolmer;
Mauno Vihinen;
Jorma Palvimo;
Jani Saarela;
Ismo Ulmanen

Publication type:

Article

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR (Communicated by Paolo M. Fortina).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 278, doi. 10.1002/humu.20001

By:

Isabelle Coupry;
Laurence Monnet;
Azza Abd El Moneim Attia;
Laurence Taine

Publication type:

Article

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis (Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2004, v. 23, n. 3, p. 222, doi. 10.1002/humu.10314

By:

Chelsee Hewitt;
Derek McCormick;
Gerry Linden;
Dusan Turk;
Igor Stern;
Ian Wallace;
Louise Southern;
Liqun Zhang;
Rebecca Howard;
Pedro Bullon;
Melanie Wong;
Richard Widmer;
Khaled Abdul Gaffar;
Lama Awawdeh;
Jim Briggs;
Reza Yaghmai;
Ethlin W. Jabs;
Peter Hoeger;
Oliver Bleck;
Stefan G. Rüdiger

Publication type:

Article