Human Mutation

Cover image for Human Mutation

March 2007

Volume 28, Issue 3

Pages 209–311

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    1. 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 (pages 209–221)

      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, Francis H. Glorieux, Peter J. Roughley, Alan M. Lund, Kaija Kuurila-Svahn, Heini Hartikka, Daniel H. Cohn, Deborah Krakow, Monica Mottes, Ulrike Schwarze, Diana Chen, Kathleen Yang, Christine Kuslich, James Troendle, Raymond Dalgleish and Peter H. Byers

      Version of Record online: 31 OCT 2006 | DOI: 10.1002/humu.20429

  2. Databases

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    1. You have free access to this content
      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 (pages 222–234)

      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, Giuseppe Remuzzi, Santiago Rodríguez de Córdoba, Pilar Sánchez-Corral, Christine Skerka, Peter F. Zipfel and Stephen J. Perkins

      Version of Record online: 6 NOV 2006 | DOI: 10.1002/humu.20435

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    1. Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays (pages 235–242)

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

      Version of Record online: 6 NOV 2006 | DOI: 10.1002/humu.20424

    2. 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 (pages 243–254)

      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 and Steven Nusinowitz

      Version of Record online: 16 OCT 2006 | DOI: 10.1002/humu.20425

    3. You have full text access to this OnlineOpen article
      Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion (pages 255–264)

      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. Boers, Mette Gaustadnes, Flemming Skovby, Bridget Wilcken, David E. L. Wilcken, Generoso Andria, Gianfranco Sebastio, Eileen R. Naughten, Sufin Yap, Toshihiro Ohura, Ewa Pronicka, Aranka Laszlo and Viktor Kožich

      Version of Record online: 27 OCT 2006 | DOI: 10.1002/humu.20430

    4. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome (pages 265–272)

      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, Katherine A. Rauen, Cheryl S. Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri and Marco Tartaglia

      Version of Record online: 19 OCT 2006 | DOI: 10.1002/humu.20431

    5. Schimke immunoosseous dysplasia: suggestions of genetic diversity (pages 273–283)

      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, Radovan Bogdanovic, Dominique Bonneau, Caterina Cancrini, Pierre Cochat, Sandra Cockfield, Laure Collard, Isabel Cordeiro, Valerie Cormier-Daire, Karlien Cransberg, Karel Cutka, Georges Deschenes, Jochen H.H. Ehrich, Stefan Fründ, Helen Georgaki, Encarna Guillen-Navarro, Barbara Hinkelmann, Maria Kanariou, Belde Kasap, Sara Sebnem Kilic, Guiliana Lama, Petra Lamfers, Chantal Loirat, Silvia Majore, David Milford, Denis Morin, Nihal Özdemir, Bertram F. Pontz, Willem Proesmans, Stavroula Psoni, Herbert Reichenbach, Silke Reif, Cristina Rusu, Jorge M. Saraiva, Onur Sakallioglu, Beate Schmidt, Lawrence Shoemaker, Sabine Sigaudy, Graham Smith, Flora Sotsiou, Natasa Stajic, Anja Stein, Asbjørg Stray-Pedersen, Doris Taha, Sophie Taque, Jane Tizard, Michel Tsimaratos, Newton A.C.S. Wong and Cornelius F. Boerkoel

      Version of Record online: 6 NOV 2006 | DOI: 10.1002/humu.20432

    6. Genotype–phenotype correlations in hereditary familial retinoblastoma (pages 284–293)

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

      Version of Record online: 9 NOV 2006 | DOI: 10.1002/humu.20443

  4. Methods

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    1. Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE (pages 294–302)

      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 Farooqi, Cyrus Cooper, David I.W. Phillips and Ian N.M. Day

      Version of Record online: 27 OCT 2006 | DOI: 10.1002/humu.20404

    2. Allelic loss analysis by denaturing high-performance liquid chromatography and electrospray ionization mass spectrometry (pages 303–311)

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

      Version of Record online: 15 NOV 2006 | DOI: 10.1002/humu.20439

SEARCH

SEARCH BY CITATION