Works matching IS 10597794 AND DT 2005 AND VI 25 AND IP 5

Results: 24

Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancer.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 498, doi. 10.1002/humu.20189

By:

Peterlongo, Paolo;
Howe, Louise R.;
Radice, Paolo;
Sala, Paola;
Hong, Young-Joon;
Hong, Seok-Il;
Mitra, Nandita;
Offit, Kenneth;
Ellis, Nathan A.

Publication type:

Article

Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 503, doi. 10.1002/humu.9332

By:

Sobrier, Marie-Laure;
Netchine, Irène;
Heinrichs, Claudine;
Thibaud, Nathalie;
Vié-Luton, Marie-Pierre;
Van Vliet, Guy;
Amselem, Serge

Publication type:

Article

A new insight into PMM2 mutations in the French population.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 504, doi. 10.1002/humu.9336

By:

Le Bizec, Christiane;
Vuillaumier-Barrot, Sandrine;
Barnier, Anne;
Dupré, Thierry;
Durand, Geneviève;
Seta, Nathalie

Publication type:

Article

A separation-free assay for the detection of mutations: Combination of homogeneous time-resolved fluorescence and minisequencing.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 468, doi. 10.1002/humu.20162

By:

Lopez-Crapez, Evelyne;
Bazin, Hervé;
Chevalier, Julien;
Trinquet, Eric;
Grenier, Jean;
Mathis, Gérard

Publication type:

Article

KinMutBase: A registry of disease-causing mutations in protein kinase domains.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 435, doi. 10.1002/humu.20166

By:

Ortutay, Csaba;
Väliaho, Jouni;
Stenberg, Kaj;
Vihinen, Mauno

Publication type:

Article

TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 429, doi. 10.1002/humu.20159

By:

Splendore, Alessandra;
Fanganiello, Roberto D.;
Masotti, Cibele;
Morganti, Lucas S.C.;
Rita Passos-Bueno, M.

Publication type:

Article

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 491, doi. 10.1002/humu.20165

By:

Lualdi, Susanna;
Regis, Stefano;
Di Rocco, Maja;
Corsolini, Fabio;
Stroppiano, Marina;
Antuzzi, Daniela;
Filocamo, Mirella

Publication type:

Article

Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 504, doi. 10.1002/humu.9335

By:

Chevalier-Porst, F.;
Souche, G.;
Bozon, D.

Publication type:

Article

eOPA1: An online database for OPA1 mutations.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 423, doi. 10.1002/humu.20161

By:

Ferré, Marc;
Amati-Bonneau, Patrizia;
Tourmen, Yves;
Malthièry, Yves;
Reynier, Pascal

Publication type:

Article

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 506, doi. 10.1002/humu.9339

By:

Erdõs, Melinda;
Uzvölgyi, Éva;
Nemes, Zoltán;
Török, Olga;
Rákóczi, Éva;
Went-Sümegi, Nils;
Sümegi, János;
Maródi, László

Publication type:

Article

Thirteen novel mutations in the NR0B1 ( DAX1) gene as cause of adrenal hypoplasia congenita.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 502, doi. 10.1002/humu.9331

By:

Krone, Nils;
Riepe, Felix Günther;
Dörr, Helmuth-Günther;
Morlot, Michel;
Rudorff, Karl-Heinz;
Drop, Stenvert L.S.;
Weigel, Johannes;
Pura, Mikulas;
Kreze, Alexander;
Boronat, Mauro;
de Luca, Filippo;
Tiulpakov, Anatoly;
Partsch, Carl-Joachim;
Peter, Michael;
Sippell, Wolfgang G.

Publication type:

Article

Genomic rearrangements in the BRCA1 and BRCA2 genes.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 415, doi. 10.1002/humu.20169

By:

Mazoyer, Sylvie

Publication type:

Article

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 460, doi. 10.1002/humu.20160

By:

Su, Yi-Ning;
Hung, Chia-Cheng;
Li, Hung;
Lee, Chien-Nan;
Cheng, Wen-Fang;
Tsao, Po-Nien;
Chang, Ming-Cheng;
Yu, Chia-Li;
Hsieh, Wu-Shiun;
Lin, Win-Li;
Hsu, Su-Ming

Publication type:

Article

Identification of novel mutations in classical galactosemia.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 502, doi. 10.1002/humu.9330

By:

Bosch, Annet M.;
IJlst, Lodewijk;
Oostheim, Wendy;
Mulders, Joyce;
Bakker, Henk D.;
Wijburg, Frits A.;
Wanders, Ronald J.A.;
Waterham, Hans R.

Publication type:

Article

Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY).

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 503, doi. 10.1002/humu.9334

By:

Toaima, Dalia;
Näke, Andrea;
Wendenburg, Jutta;
Praedicow, Kirsten;
Rohayem, Julia;
Engel, Kerstin;
Galler, Angela;
Gahr, Manfred;
Lee-Kirsch, Min Ae

Publication type:

Article

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 505, doi. 10.1002/humu.9338

By:

Shi, Jinxiu;
Shibayama, Akane;
Liu, Qiang;
Nguyen, Vu Q.;
Feng, Jinong;
Santos, Mónica;
Temudo, Teresa;
Maciel, Patricia;
Sommer, Steve S.

Publication type:

Article

BAC-based PCR fragment microarray: High-resolution detection of chromosomal deletion and duplication breakpoints.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 476, doi. 10.1002/humu.20164

By:

Ren, Hua;
Francis, Wendy;
Boys, Amber;
Chueh, Anderly C.;
Wong, Nick;
La, Phung;
Wong, Lee H.;
Ryan, Jacinta;
Slater, Howard R.;
Andy Choo, K.H.

Publication type:

Article

Conservation of the RBI gene in human and primates.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 501, doi. 10.1002/humu.20186

By:

Sivakumaran, Theru A.;
Shen, Peidong;
Wall, Dennis P.;
Do, Bao H.;
Kucheria, Kiran;
Oefner, Peter J.

Publication type:

Article

Comparison of PCR-based mutation detection methods and application for identification of mouse Sult1a1 mutant embryonic stem cell clones using pooled templates.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 483, doi. 10.1002/humu.20168

By:

Greber, Boris;
Tandara, Helena;
Lehrach, Hans;
Himmelbauer, Heinz

Publication type:

Article

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 506, doi. 10.1002/humu.9340

By:

Patrono, Clarice;
Scarano, Valentina;
Cricchi, Federica;
Melone, Mariarosa A. B.;
Chiriaco, Maria;
Napolitano, Alessandro;
Malandrini, Alessandro;
De Michele, Giuseppe;
Petrozzi, Lucia;
Giraldi, Carlo;
Santoro, Lucio;
Servidei, Serena;
Casali, Carlo;
Filla, Alessandro;
Santorelli, Filippo M.

Publication type:

Article

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 503, doi. 10.1002/humu.9333

By:

Tlili, Abdelaziz;
Charfedine, Ilhem;
Lahmar, Imed;
Benzina, Zaineb;
Amor Mohamed, Ben;
Weil, Dominique;
Idriss, Nabil;
Drira, Mohamed;
Masmoudi, Saber;
Ayadi, Hammadi

Publication type:

Article

Nephrogenic diabetes insipidus caused by mutation of Tyr205: A key residue of V2 vasopressin receptor function.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 505, doi. 10.1002/humu.9337

By:

Sangkuhl, Katrin;
Römpler, Holger;
Busch, Wibke;
Karges, Beate;
Schöneberg, Torsten

Publication type:

Article

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 443, doi. 10.1002/humu.20163

By:

Maier, Esther M.;
Liebl, Bernhard;
Röschinger, Wulf;
Nennstiel-Ratzel, Uta;
Fingerhut, Ralph;
Olgemöller, Bernhard;
Busch, Ulrich;
Krone, Nils;
Kries, Rüdiger v.;
Roscher, Adelbert A.

Publication type:

Article

Ancient origin of the CAG expansion causing Huntington disease in a Spanish population.

Published in:

Human Mutation, 2005, v. 25, n. 5, p. 453, doi. 10.1002/humu.20167

By:

García-Planells, Javier;
Burguera, Juan A.;
Solís, Pilar;
Millán, José M.;
Ginestar, Damián;
Palau, Francesc;
Espinós, Carmen

Publication type:

Article