Volume 25; Issue 5

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Human Mutation
Volume 25; Issue 5

Human Mutation

Volume 25; Issue 5

1

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 152 KB

english, 2005

2

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 244 KB

english, 2005

3

eOPA1: An online database for OPA1 mutations

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 368 KB

english, 2005

4

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 224 KB

english, 2005

5

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 223 KB

english, 2005

6

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 333 KB

english, 2005

7

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 221 KB

english, 2005

8

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

Csaba Ortutay, Jouni Väliaho, Kaj Stenberg, Mauno Vihinen

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 385 KB

english, 2005

9

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 208 KB

english, 2005

10

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

Boris Greber, Helena Tandara, Hans Lehrach, Heinz Himmelbauer

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 284 KB

english, 2005

11

Genomic rearrangements in the BRCA1 and BRCA2 genes

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 151 KB

english, 2005

12

Conservation of the RBI gene in human and primates

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 55 KB

english, 2005

13

Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancer

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 96 KB

english, 2005

14

Identification of novel mutations in classical galactosemia

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 177 KB

english, 2005

15

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

Nils Krone, Felix Günther Riepe, Helmuth-Günther Dörr, Michel Morlot, Karl-Heinz Rudorff, Stenvert L.S. Drop, Johannes Weigel, Mikulas Pura, Alexander Kreze, Mauro Boronat, Filippo de Luca, Anatoly Ti

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 95 KB

english, 2005

16

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 878 KB

english, 2005

17

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 65 KB

english, 2005

18

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 74 KB

english, 2005

19

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 73 KB

english, 2005

20

A new insight into PMM2 mutations in the French population

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 102 KB

english, 2005

21

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 679 KB

english, 2005

22

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 272 KB

english, 2005

23

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

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

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 258 KB

english, 2005

24

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

Clarice Patrono, Valentina Scarano, Federica Cricchi, Mariarosa A. B. Melone, Maria Chiriaco, Alessandro Napolitano, Alessandro Malandrini, Giuseppe De Michele, Lucia Petrozzi, Carlo Giraldi, Lucio Sa

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 134 KB

english, 2005