Works matching IS 10597794 AND DT 2008 AND VI 29 AND IP 8

Results: 19

Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1055, doi. 10.1002/humu.20760

By:

Lin, Chien-hsing;
Huang, Mei-chu;
Li, Ling-hui;
Wu, Jer-yuarn;
Chen, Yuan-tsong;
Fann, Cathy S.J.

Publication type:

Article

Germline and somatic NF1 gene mutations in plexiform neurofibromas.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E103, doi. 10.1002/humu.20793

By:

Upadhyaya, Meena;
Spurlock, Gill;
Monem, Bisma;
Thomas, Nick;
Friedrich, Reinhard E.;
Kluwe, Lan;
Mautner, Victor

Publication type:

Article

Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1063, doi. 10.1002/humu.20764

By:

Berwouts, Sarah;
Gordon, Joan T.;
Rundell, Clark A.;
Barton, David E.;
Dequeker, Elisabeth

Publication type:

Article

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E123, doi. 10.1002/humu.20809

By:

Nallathambi, Jeyabalan;
Laissue, Paul;
Batista, Frank;
Benayoun, Bérénice A.;
Lesaffre, Corinne;
Moumné, Lara;
Pandaranayaka, PJ Eswari;
Usha, Kim;
Krishnaswamy, Sankaran;
Sundaresan, Periasamy;
Veitia, Reiner A.

Publication type:

Article

A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E112, doi. 10.1002/humu.20800

By:

Herrero-Martín, María D.;
Pineda, Mercedes;
Briones, Paz;
López-Gallardo, Ester;
Carreras, Magdalena;
Benac, Mercedes;
Angel Idoate, Miguel;
Vilaseca, María A.;
Artuch, Rafael;
López-Pérez, Manuel J.;
Ruiz-Pesini, Eduardo;
Montoya, Julio

Publication type:

Article

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1017, doi. 10.1002/humu.20741

By:

Tassabehji, May;
Fang, Zhi Ming;
Hilton, Emma N.;
McGaughran, Julie;
Zhao, Zhongming;
de Bock, Charles E.;
Howard, Emma;
Malass, Michael;
Donnai, Dian;
Diwan, Ashish;
Manson, Forbes D.C.;
Murrell, Dédée;
Clarke, Raymond A.

Publication type:

Article

A meta-analysis of nonsense mutations causing human genetic disease.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1037, doi. 10.1002/humu.20763

By:

Mort, Matthew;
Ivanov, Dobril;
Cooper, David N.;
Chuzhanova, Nadia A.

Publication type:

Article

Dry-reagent disposable biosensor for visual genotyping of single nucleotide polymorphisms by oligonucleotide ligation reaction: application to pharmacogenetic analysis.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1071, doi. 10.1002/humu.20774

By:

Toubanaki, Dimitra K.;
Christopoulos, Theodore K.;
Ioannou, Penelope C.;
Gravanis, Achille

Publication type:

Article

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E95, doi. 10.1002/humu.20789

By:

Lee, Sook-Kyung;
Hu, Jan C-C.;
Bartlett, John D.;
Lee, Kyung-Eun;
Lin, Brent P-J.;
Simmer, James P.;
Kim, Jung-Wook

Publication type:

Article

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1079, doi. 10.1002/humu.20821

By:

Zurflüh, Marcel R.;
Zschocke, Johannes;
Lindner, Martin;
Feillet, François;
Chery, Céline;
Burlina, Alberto;
Stevens, Raymond C.;
Thöny, Beat;
Blau, Nenad

Publication type:

Article

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E76, doi. 10.1002/humu.20780

By:

Baux, David;
Faugère, Valérie;
Larrieu, Lise;
Le Guédard-Méreuze, Sandie;
Hamroun, Dalil;
Béroud, Christophe;
Malcolm, Sue;
Claustres, Mireille;
Roux, Anne-Françoise

Publication type:

Article

Does proximal myotonic myopathy show anticipation?

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E100, doi. 10.1002/humu.20791

By:

Kruse, Bernd;
Wöhrle, Doris;
Steinbach, Peter;
Gal, Andreas

Publication type:

Article

Cystathionine β-synthase p.S466L mutation causes hyperhomocysteinemia in mice.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1048, doi. 10.1002/humu.20773

By:

Gupta, Sapna;
Wang, Liqun;
Hua, Xiang;
Krijt, Jakub;
Kožich, Viktor;
Kruger, Warren D.

Publication type:

Article

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Published in:

2008

By:

Aoki, Yoko;
Niihori, Tetsuya;
Narumi, Yoko;
Kure, Shigeo;
Matsubara, Yoichi

Publication type:

Other

Red hair is the null phenotype of MC1R.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E88, doi. 10.1002/humu.20788

By:

Beaumont, Kimberley A.;
Shekar, Sri N.;
Cook, Anthony L.;
Duffy, David L.;
Sturm, Richard A.

Publication type:

Article

Sunlight ultraviolet irradiation and BRAF V600 mutagenesis in human melanoma.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 983, doi. 10.1002/humu.20802

By:

Besaratinia, Ahmad;
Pfeifer, Gerd P.

Publication type:

Article

Mutations and polymorphisms of the gene of the major human blood protein, serum albumin.

Published in:

2008

By:

Minchiotti, Lorenzo;
Galliano, Monica;
Kragh-Hansen, Ulrich;
Peters, Theodore

Publication type:

Other

Thailand mutation and variation database (ThaiMUT).

Published in:

Human Mutation, 2008, v. 29, n. 8, p. E68, doi. 10.1002/humu.20787

By:

Ruangrit, Uttapong;
Srikummool, Metawee;
Assawamakin, Anunchai;
Ngamphiw, Chumpol;
Chuechote, Suparat;
Thaiprasarnsup, Vilasinee;
Agavatpanitch, Gallissara;
Pasomsab, Ekawat;
Yenchitsomanus, Pa-thai;
Mahasirimongkol, Surakameth;
Chantratita, Wasun;
Palittapongarnpim, Prasit;
Uyyanonvara, Bunyarit;
Limwongse, Chanin;
Tongsima, Sissades

Publication type:

Article

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

Published in:

Human Mutation, 2008, v. 29, n. 8, p. 1028, doi. 10.1002/humu.20758

By:

Bonnet-Dupeyron, Marie-Noëlle;
Combes, Patricia;
Santander, Paola;
Cailloux, Fabrice;
Boespflug-Tanguy, Odile;
Vaurs-Barrière, Catherine

Publication type:

Article