Human Mutation

Cover image for Human Mutation

February 2007

Volume 28, Issue 2

Pages 99–208

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Methods
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
  2. Methods

    1. Top of page
    2. Review Articles
    3. Methods
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
  3. Rapid Communications

    1. Top of page
    2. Review Articles
    3. Methods
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element (pages 137–142)

      Manuèle Miné, Jian-Min Chen, Michèle Brivet, Isabelle Desguerre, Dominique Marchant, Pascale de Lonlay, Aral Bernard, Claude Férec, Marc Abitbol, Daniel Ricquier and Cécile Marsac

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/humu.20449

  4. Research Articles

    1. Top of page
    2. Review Articles
    3. Methods
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. You have free access to this content
      Genotype–phenotype correlations in von Hippel-Lindau disease (pages 143–149)

      Kai Ren Ong, Emma R. Woodward, Pip Killick, Caron Lim, Fiona Macdonald and Eamonn R. Maher

      Version of Record online: 5 OCT 2006 | DOI: 10.1002/humu.20385

    2. Single base-pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing (pages 150–158)

      Michael Krawczak, Nick S.T. Thomas, Bernd Hundrieser, Matthew Mort, Michael Wittig, Jochen Hampe and David N. Cooper

      Version of Record online: 25 SEP 2006 | DOI: 10.1002/humu.20400

    3. Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma (pages 159–167)

      Francisco Sánchez-Sánchez, Carmen Ramírez-Castillejo, Daniel B. Weekes, Magdalena Beneyto, Félix Prieto, Carmen Nájera and Sibylle Mittnacht

      Version of Record online: 20 SEP 2006 | DOI: 10.1002/humu.20394

    4. A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease (pages 168–176)

      Paola Griseri, Francesca Lantieri, Francesca Puppo, Tiziana Bachetti, Marco Di Duca, Roberto Ravazzolo and Isabella Ceccherini

      Version of Record online: 19 SEP 2006 | DOI: 10.1002/humu.20397

    5. Protein- and mRNA-based phenotype–genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene (pages 183–195)

      Nathalie Deburgrave, Fatma Daoud, Stéphane Llense, Jean Claude Barbot, Dominique Récan, Cécile Peccate, Arthur H.M. Burghes, Christophe Béroud, Luis Garcia, Jean-Claude Kaplan, Jamel Chelly and France Leturcq

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.20422

    6. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy (pages 196–202)

      Christophe Béroud, Sylvie Tuffery-Giraud, Masafumi Matsuo, Dalil Hamroun, Véronique Humbertclaude, Nicole Monnier, Marie-Pierre Moizard, Marie-Antoinette Voelckel, Laurence Michel Calemard, Pierre Boisseau, Martine Blayau, Christophe Philippe, Mireille Cossée, Michel Pagès, François Rivier, Olivier Danos, Luis Garcia and Mireille Claustres

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.20428

  5. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Methods
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. You have free access to this content
      Identification of seven novel germline mutations in the human E-cadherin (CDH1) Gene (page 203)

      H. More, B. Humar, W. Weber, R. Ward, A. Christian, C. Lintott, F. Graziano, A-M. Ruzzo, E. Acosta, B. Boman, M. Harlan, P. Ferreira, R. Seruca, G. Suriano and P. Guilford

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9473

    2. You have free access to this content
      A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients (pages 203–204)

      Juan C. Rubio, Ines Garcia-Consuegra, Gisela Nogales-Gadea, Alberto Blazquez, Ana Cabello, Alejandro Lucia, Antoni L. Andreu, Joaquin Arenas and Miguel A. Martin

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9474

    3. You have free access to this content
      GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling (page 204)

      Anna Caciotti, Maria Alice Donati, Elena Procopio, Mirella Filocamo, Wim Kleijer, Wim Wuyts, Bettina Blaumeiser, Alessandra d'Azzo, Lisa Simi, Claudio Orlando, Fiona McKenzie, Agata Fiumara, Enrico Zammarchi and Amelia Morrone

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9475

    4. You have free access to this content
      Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region (pages 204–205)

      Elke M. Botzenhart, Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, Wilfredo Torres-Martinez, Cesare Danesino, Matthew A. Deardorff, Jean-Pierre Fryns, Sandrine Marlin, Sixto Garcia-Minaur, Yorck Hellenbroich, Beverly N. Hay, Maila Penttinen, Vandana Shashi, Paulien Terhal, Lionel Van Maldergem, Margo L. Whiteford, Elaine Zackai and Jürgen Kohlhase

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9476

    5. You have free access to this content
      Deletion of exon 16 of the dystrophin gene is not associated with disease (page 205)

      Marianne Schwartz, Morten Dunø, Anne Lise Palle, Thomas Krag and John Vissing

      Version of Record online: 16 JAN 2007 | DOI: 10.1002/humu.9477

    6. You have free access to this content
      Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations (pages 205–206)

      Guntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, Arnold Munnich, Valérie Cormier-Daire and Laurence Colleaux

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9478

    7. You have free access to this content
      HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update (page 206)

      Belinda Giardine, Sjozef van Baal, Polynikis Kaimakis, Cathy Riemer, Webb Miller, Maria Samara, Panagoula Kollia, Nicholas P. Anagnou, David H.K. Chui, Henri Wajcman, Ross C. Hardison and George P. Patrinos

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9479

    8. You have free access to this content
      MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified (pages 206–207)

      Rosa Ferrentino, Maria Teresa Bassi, David Chitayat, Elisabetta Tabolacci and Germana Meroni

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9480

    9. You have free access to this content
      Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany (page 207)

      Lisbeth Birk Møller, Anders O.H. Nygren, Patrick Scott, Pia Hougaard, Jytte Bieber Nielsen, Caroline Hartmann, Flemming Güttler, Linda Tyfield and Johannes Zschocke

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9481

    10. You have free access to this content
      Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium (pages 207–208)

      Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanne G.M. Frints, Guy Froyen, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, Laetitia Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gecz, Andreas W. Kuss, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans-Hilger Ropers and Ben C.J. Hamel

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9482

    11. You have free access to this content
      Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome (page 208)

      Yoshisumi Haruna, Atsushi Kobori, Takeru Makiyama, Hidetada Yoshida, Masaharu Akao, Takahiro Doi, Keiko Tsuji, Seiko Ono, Yukiko Nishio, Wataru Shimizu, Takehiko Inoue, Tomoaki Murakami, Naoya Tsuboi, Hideo Yamanouchi, Hiroya Ushinohama, Yoshihide Nakamura, Masao Yoshinaga, Hitoshi Horigome, Yoshifusa Aizawa, Toru Kita and Minoru Horie

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.9483

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