Volume 28; Issue 3

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Human Mutation
Volume 28; Issue 3

Human Mutation

Volume 28; Issue 3

1

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE

Khalid K. Alharbi, Emmanuel Spanakis, Karen Tan, Matt J. Smith, Mohammed A. Aldahmesh, Sandra D. O'Dell, Avan Aihie Sayer, Debbie A. Lawlor, Shah Ebrahim, George Davey Smith, Stephen O'Rahilly, Sadaf

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 458 KB

english, 2007

2

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays

Christopher M. Stanczak, Zugen Chen, Yao-Hua Zhang, Stanley F. Nelson, Edward R.B. McCabe

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 312 KB

english, 2007

3

Transgenic mice carrying the H258N mutation in the gene encoding the β-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness

Stephen H. Tsang, Michael L. Woodruff, Lin Jun, Vinit Mahajan, Clyde K. Yamashita, Robert Pedersen, Chyuan-Sheng Lin, Stephen P. Goff, Thomas Rosenberg, Michael Larsen, Debora B. Farber, Steven Nusino

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 401 KB

english, 2007

4

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Joan C. Marini, Antonella Forlino, Wayne A. Cabral, Aileen M. Barnes, James D. San Antonio, Sarah Milgrom, James C. Hyland, Jarmo Körkkö, Darwin J. Prockop, Anne De Paepe, Paul Coucke, Sofie Symoens,

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 307 KB

english, 2007

5

Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Petr Vyletal, Jitka Sokolová, David N. Cooper, Jan P. Kraus, Michael Krawczak, Guglielmina Pepe, Olga Rickards, Hans G. Koch, Michael Linnebank, Leo A. J. Kluijtmans, Henk J. Blom, Godfried H. J. Boer

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 391 KB

english, 2007

6

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Delogu, Anna Sarkozy, Francesca Atzeri, Angelo Selicorni, Kath

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 339 KB

english, 2007

7

Schimke immunoosseous dysplasia: suggestions of genetic diversity

J. Marietta Clewing, Helen Fryssira, David Goodman, Sarah F. Smithson, Emily A. Sloan, Shu Lou, Yan Huang, Kunho Choi, Thomas Lücke, Harika Alpay, Jean-Luc André, Yumi Asakura, Nathalie Biebuyck-Gouge

Journal:

Année:

2007

Fichier:

PDF, 272 KB

2007

8

The interactive Factor H–atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models

Rebecca E. Saunders, Cynthia Abarrategui-Garrido, Véronique Frémeaux-Bacchi, Elena Goicoechea de Jorge, Timothy H.J. Goodship, Margarita López Trascasa, Marina Noris, Isabel Maria Ponce Castro, Giusep

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 776 KB

english, 2007

9

Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry

Eva Gross, Georg Hölzl, Norbert Arnold, Evelyn Hauenstein, Anja Jacobsen, Kathrin Schulze, Juliane Ramser, Alfons Meindl, Marion Kiechle, Peter J. Oefner

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 312 KB

english, 2007

10

Genotype–phenotype correlations in hereditary familial retinoblastoma

Melissa Taylor, Catherine Dehainault, Laurence Desjardins, François Doz, Christine Levy, Xavier Sastre, Jérôme Couturier, Dominique Stoppa-Lyonnet, Claude Houdayer, Marion Gauthier-Villars

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 260 KB

english, 2007