Volume 28; Issue 8

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Human Mutation
Volume 28; Issue 8

Human Mutation

Volume 28; Issue 8

1

Effective detection of corrected dystrophin loci in mdx mouse myogenic precursors

Marian Todaro, Anita Quigley, Magdalena Kita, Judy Chin, Kym Lowes, Andrew J. Kornberg, Mark J. Cook, Robert Kapsa

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 337 KB

english, 2007

2

Night blindness–associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

Christina Zeitz, Ursula Forster, John Neidhardt, Silke Feil, Stefan Kälin, Dorothee Leifert, Peter J. Flor, Wolfgang Berger

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 454 KB

english, 2007

3

Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry

James German, Maureen M. Sanz, Susan Ciocci, Tian Z. Ye, Nathan A. Ellis

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 293 KB

english, 2007

4

Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature

Dongqing Gu, William A. Scaringe, Kai Li, Juan-Sebastian Saldivar, Kathleen A. Hill, Zhenbin Chen, Kelly D. Gonzalez, Steve S. Sommer

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 331 KB

english, 2007

5

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients

David Baux, Lise Larrieu, Catherine Blanchet, Christian Hamel, Safouane Ben Salah, Anne Vielle, Brigitte Gilbert-Dussardier, Muriel Holder, Patrick Calvas, Nicole Philip, Patrick Edery, Dominique Bonn

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 362 KB

english, 2007

6

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

L. de Pontual, A. Pelet, M. Clement-Ziza, D. Trochet, S.E. Antonarakis, T. Attie-Bitach, P.L. Beales, J.-L. Blouin, F. Dastot-Le Moal, H. Dollfus, M. Goossens, N. Katsanis, R. Touraine, J. Feingold, A

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 213 KB

english, 2007

7

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene

Ljubica Caldovic, Hiroki Morizono, Mendel Tuchman

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 617 KB

english, 2007

8

Identification and characterization of a novel RPGR isoform in human retina

John Neidhardt, Esther Glaus, Daniel Barthelmes, Christina Zeitz, Johannes Fleischhauer, Wolfgang Berger

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 482 KB

english, 2007

9

Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populations

Gila Idelman, James G. Taylor, Ron Tongbai, Renee A. Chen, Cynthia M. Haggerty, Sven Bilke, Stephen J. Chanock, Kevin Gardner

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 276 KB

english, 2007

10

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis

Ulf-Peter Guenther, Raymonda Varon, Maria Schlicke, Véronique Dutrannoy, Alexander Volk, Christoph Hübner, Katja von Au, Markus Schuelke

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 311 KB

english, 2007

11

Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay

Wiktor Borozdin, John M. Graham Jr., Detlef Böhm, Michael J. Bamshad, Stefanie Spranger, Leah Burke, Michael Leipoldt, Jürgen Kohlhase

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 452 KB

english, 2007

12

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response

Ines Dierick, Joy Irobi, Sophie Janssens, Jessie Theuns, Robin Lemmens, An Jacobs, Ellen Corsmit, Nicole Hersmus, Ludo Van Den Bosch, Wim Robberecht, Peter De Jonghe, Christine Van Broeckhoven, Vincen

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 289 KB

english, 2007