Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 5

Results: 21

Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #662 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/662.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 419, doi. 10.1002/humu.9191

By:

Beth K. Thielen;
David F. Barker;
Raoul D. Nelson;
Jing Zhou;
Stefan M. Kren;
Yoav Segal

Publication type:

Article

Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #664 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/664.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9193

By:

Lan Kluwe;
Reinhard E. Friedrich;
Matthias Peiper;
Jan Friedman;
Victor-F. Mautner

Publication type:

Article

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe(Communicated by Richard G.H. Cotton).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 409, doi. 10.1002/humu.10269

By:

R. Rademakers;
B. Dermaut;
K. Peeters;
M. Cruts;
P. Heutink;
A. Goate;
C. Van Broeckhoven

Publication type:

Article

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)(Online Citation: Human Mutation, Mutation in Brief #661 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/661.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 418, doi. 10.1002/humu.9190

By:

Barry Eng;
Lisa N. Nakamura;
Natasha O'Reilly;
Natasha Schokman;
Magorzata M.J. Nowaczyk;
William Krivit

Publication type:

Article

BUB1 infrequently mutated in human breast carcinomas(Communicated by Haig H. Kazazian, Jr.)Online Citation: Human Mutation, Mutation in Brief #665 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/665.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 420

By:

Anita Langerød;
Maria Strømberg;
Koei Chin;
Vessela N. Kristensen;
Anne-Lise Børresen-Dale

Publication type:

Article

Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic(Communicated by Robert J. Desnick) Online Citation: Human Mutation, Mutation in Brief #666 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/666.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9195

By:

Vibeke Westphal;
Ming Xiao;
Pui-Yan Kwok;
Hudson H. Freeze

Publication type:

Article

Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #663 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/663.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 419, doi. 10.1002/humu.9192

By:

G. Isidro;
S. Matos;
V. Gonçalves;
C. Cavaleiro;
O. Antunes;
C. Marinho;
J. Soares;
M.G. Boavida

Publication type:

Article

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #660 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/660.pdf).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 418

By:

Franziska Krämer;
Nicole Mohr;
Ulrich Kellner;
Günther Rudolph;
Bernhard H.F. Weber

Publication type:

Article

Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations(Communicated by Ellen Solomon)Online Citation: Human Mutation, Mutation in Brief #659 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/659.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 417

By:

J.I. Martínez-Ferrandis;
A. Vega;
I. Chirivella;
P. Marín-García;
A. Insa;
A. Lluch;
A. Carracedo;
F.J. Chaves;
J. García-Conde;
A. Cervantes;
M.-E. Armengod

Publication type:

Article

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #658 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/658.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 417, doi. 10.1002/humu.9187

By:

Marco Henneke;
Nadine Flaschker;
Christoph Helbling;
Martina Müller;
Peter Schadewaldt;
Jutta Gärtner;
Udo Wendel

Publication type:

Article

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #657 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/657.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 417, doi. 10.1002/humu.9186

By:

K.L. Thomson;
A.L. Gloyn;
K. Colclough;
M. Batten;
L.I.S. Allen;
F. Beards;
A.T. Hattersley

Publication type:

Article

Genetic variation in a haplotype block spanning IDE influences Alzheimer disease(Communicated by Richard G. H. Cotton).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 363, doi. 10.1002/humu.10282

By:

Jonathan A. Prince;
Lars Feuk;
Harvest F. Gu;
Boo Johansson;
Margaret Gatz;
Kaj Blennow;
Anthony J. Brookes

Publication type:

Article

The molecular basis of glutamate formiminotransferase deficiency.

Published in:

2003

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:

Erratum

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy(Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 353, doi. 10.1002/humu.10277

By:

Anna L. Gloyn

Publication type:

Article

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg(Communicated by Jean-Louis Mandel).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 404, doi. 10.1002/humu.10276

By:

Andreas Weinhaeusel;
Michael A. Morris;
Stylianos E. Antonarakis;
Oskar A. Haas

Publication type:

Article

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes(Communicated by Sergio Ottolenghi).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 412

By:

Raquel M. Fernández;
Guillermo Antiñolo;
Charis Eng;
Salud Borrego

Publication type:

Article

High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography(Communicated by Riccardo Fodde).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 388, doi. 10.1002/humu.10271

By:

Kai-feng Pan;
Wanguo Liu;
You-Yong Lu;
Lian Zhang;
Zhen-pu Li;
Wan-Li Lu;
Stephen N. Thibodeau;
Wei-Cheng You

Publication type:

Article

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion(Communicated by David N. Cooper).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 378, doi. 10.1002/humu.10270

By:

Naohiro Kurotaki;
Naoki Harada;
Osamu Shimokawa;
Noriko Miyake;
Hiroshi Kawame;
Kimiaki Uetake;
Yoshio Makita;
Tatsuro Kondoh;
Tsutomu Ogata;
Tomoko Hasegawa;
Toshiro Nagai;
Takao Ozaki;
Mayumi Touyama;
Ruthie Shenhav;
Hirofumi Ohashi;
Livija Medne;
Takashi Shiihara;
Shigeyuki Ohtsu;
Zen-ichiro Kato;
Nobuhiko Okamoto

Publication type:

Article

Molecular pathology of NEU1 gene in sialidosis(Communicated by Mark H. Paalman).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 343, doi. 10.1002/humu.10268

By:

Volkan Seyrantepe;
Helena Poupetova;
Roseline Froissart;
Marie-Thérèse Zabot;
Irène Maire;
Alexey V. Pshezhetsky

Publication type:

Article

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene(Communicated by Michael Dean).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 395, doi. 10.1002/humu.10263

By:

K. Jaakson;
J. Zernant;
M. Külm;
A. Hutchinson;
N. Tonisson;
D. Glavač;
M. Ravnik-Glavač;
M. Hawlina;
M.R. Meltzer;
R.C. Caruso;
F. Testa;
A. Maugeri;
C.B. Hoyng;
P. Gouras;
F. Simonelli;
R.A. Lewis;
J.R. Lupski;
F.P.M. Cremers

Publication type:

Article

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot(Communicated by Arnold Munnich).

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 372, doi. 10.1002/humu.10261

By:

Antonio Pizzuti;
Anna Sarkozy;
Anthea L. Newton;
Emanuela Conti;
Elisabetta Flex;
Maria Cristina Digilio;
Francesca Amati;
Debora Gianni;
Caterina Tandoi;
Bruno Marino;
Merlin Crossley

Publication type:

Article