Works matching IS 10597794 AND DT 2003 AND VI 21 AND IP 1

Results: 20

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 100, doi. 10.1002/humu.9101

By:

Huehne, Kathrin;
Benes, Vladimir;
Thiel, Christian;
Kraus, Cornelia;
Kress, Wolfram;
Hoeltzenbein, Maria;
Ploner, Christoph J.;
Kotzian, Johannes;
Reis, André;
Rott, Hans Dieter;
Rautenstrauss, Bernd W.

Publication type:

Article

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 45, doi. 10.1002/humu.10145

By:

Rubie, Claudia;
Lichtner, Peter;
Gärtner, Jutta;
Siekiera, Markus;
Uziel, Graziella;
Kohlmann, Bernd;
Kohlschütter, Alfried;
Meitinger, Thomas;
Stöber, Gerald;
Bettecken, Thomas

Publication type:

Article

Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 98, doi. 10.1002/humu.9098

By:

Zoll, Barbara;
Petersen, Lars;
Lange, Katrin;
Gabriel, Peter;
Kiese-Himmel, Christiane;
Rausch, Peter;
Berger, Joachim;
Pasche, Bastian;
Meins, Moritz;
Gross, Manfred;
Berger, Roswitha;
Kruse, Eberhard;
Kunz, Jürgen;
Sperling, Karl;
Laccone, Franco

Publication type:

Article

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 80, doi. 10.1002/humu.10156

By:

Campbell, Catarina;
Mitui, Midori;
Eng, Laura;
Coutinho, Gabriela;
Thorstenson, Yvonne;
Gatti, Richard A.

Publication type:

Article

eMelanoBase: An online locus-specific variant database for familial melanoma.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 2, doi. 10.1002/humu.10149

By:

Fung, David C.Y.;
Holland, Elizabeth A.;
Becker, Therese M.;
Hayward, Nicholas K.;
Paillerets, Brigitte Bressac-de;
Consortium, Melanoma Genetics;
Mann, Graham J.

Publication type:

Article

Erratum: Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 102, doi. 10.1002/humu.9105

By:

Blanch, Alvaro;
Roche, Olga;
López-Granados, Eduardo;
Fontán, Gumersindo;
López-Trascasa, Margarita

Publication type:

Article

Dynamics of CAG repeat loci revealed by the analysis of their variability.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 61, doi. 10.1002/humu.10151

By:

Andrés, Aida M.;
Lao, Oscar;
Soldevila, Marta;
Calafell, Francesc;
Bertranpetit, Jaume

Publication type:

Article

A higher-impact Human Mutation launches web-based submission/peer review and EarlyView rapid publication.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 1, doi. 10.1002/humu.10162

By:

Cotton, Richard G. H.;
Kazazian, Haig H.;
Paalman, Mark H.

Publication type:

Article

Mutation scanning by ion-pair reversed-phase high-performance liquid chromatography-electrospray ionization mass spectrometry (ICEMS).

Published in:

2003

By:

Oberacher, Herbert;
Huber, Christian G.;
Oefner, Peter J.

Publication type:

Other

MEFV sequence variants and amyloidosis: still an enigmatic question.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 96, doi. 10.1002/humu.10137

By:

Altiok, Ozden;
Séguret, Fabienne;
Touitou, Isabelle

Publication type:

Article

Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 53, doi. 10.1002/humu.10148

By:

Feuk, Lars;
Prince, Jonathan A.;
Blennow, Kaj;
Brookes, Anthony J.

Publication type:

Article

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 99, doi. 10.1002/humu.9100

By:

Eisenberg, Iris;
Grabov-Nardini, Gil;
Hochner, Hagit;
Korner, Mira;
Sadeh, Menachem;
Bertorini, Tulio;
Bushby, Kate;
Castellan, Claudio;
Felice, Kevin;
Mendell, Jerry;
Merlini, Luciano;
Shilling, Christopher;
Wirguin, Itshak;
Argov, Zohar;
Mitrani-Rosenbaum, Stella

Publication type:

Article

Splice mutations in the p53 gene: case report and review of the literature.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 101, doi. 10.1002/humu.9104

By:

Holmila, R.;
Fouquet, C.;
Cadranel, J.;
Zalcman, G.;
Soussi, T.

Publication type:

Article

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ dene deletion.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 8, doi. 10.1002/humu.10150

By:

Bardaro, Tiziana;
Falco, Geppino;
Sparago, Angela;
Mercadante, Vincenzo;
Gean Molins, Esther;
Tarantino, Enrico;
Valeria Ursini, Matilde;
D'Urso, Michele

Publication type:

Article

Direct estimates of human per nucleotide mutation rates at 20 loci causing mendelian diseases.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 12, doi. 10.1002/humu.10147

By:

Kondrashov, Alexey S.

Publication type:

Article

Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 101, doi. 10.1002/humu.9103

By:

Ainoon, O.;
Yu, Y.H.;
Amir Muhriz, A.L.;
Boo, N.Y.;
Cheong, S.K.;
Hamidah, N.H.

Publication type:

Article

The mutational spectrum of human autosomal tetranucleotide microsatellites.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 71, doi. 10.1002/humu.10153

By:

Leopoldino, Andréia M.;
Pena, Sérgio D. J.

Publication type:

Article

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 28, doi. 10.1002/humu.10146

By:

Chuzhanova, Nadia A.;
Anassis, Emmanuel J.;
Ball, Edward V.;
Krawczak, Michael;
Cooper, David N.

Publication type:

Article

BRCA1 germline mutations in Indian familial breast cancer.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 98, doi. 10.1002/humu.9099

By:

Valarmathi, Mani T.;
A., Agarwal;
Deo, Suryanarayana S. V.;
Shukla, Nootan K.;
Das, Satya N.

Publication type:

Article

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

Published in:

Human Mutation, 2003, v. 21, n. 1, p. 100, doi. 10.1002/humu.9102

By:

Röpke, Albrecht;
Kujat, Annegret;
Gräber, Mechthild;
Giannakudis, Joannis;
Hansmann, Ingo

Publication type:

Article