Human Mutation

Cover image for Human Mutation

February 2008

Volume 29, Issue 2

Pages 207–332

  1. Databases

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Myocilin allele-specific glaucoma phenotype database (pages 207–211)

      Alex W. Hewitt, David A. Mackey and Jamie E. Craig

      Article first published online: 26 OCT 2007 | DOI: 10.1002/humu.20634

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      An XML-based interchange format for genotype–phenotype data (pages 212–219)

      M. Whirl-Carrillo, M. Woon, C.F. Thorn, T.E. Klein and R.B. Altman

      Article first published online: 9 NOV 2007 | DOI: 10.1002/humu.20662

  2. Rapid Communications

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation (pages 220–226)

      Sara Tomaselli, Francesca Megiorni, Carmelilia De Bernardo, Aldo Felici, Giacinto Marrocco, Giorgio Maggiulli, Barbara Grammatico, Daniele Remotti, Pietro Saccucci, Ferdinando Valentini, Maria Cristina Mazzilli, Silvia Majore and Paola Grammatico

      Article first published online: 17 DEC 2007 | DOI: 10.1002/humu.20665

    2. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas (pages 227–231)

      Roberta Sestini, Costanza Bacci, Aldesia Provenzano, Maurizio Genuardi and Laura Papi

      Article first published online: 10 DEC 2007 | DOI: 10.1002/humu.20679

  3. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation (pages 232–239)

      Ellen Denayer, Annabel Parret, Magdalena Chmara, Suzanne Schubbert, Annick Vogels, Koen Devriendt, Jean-Pierre Frijns, Vladimir Rybin, Thomy J. de Ravel, Kevin Shannon, Jan Cools, Klaus Scheffzek and Eric Legius

      Article first published online: 2 NOV 2007 | DOI: 10.1002/humu.20616

    2. Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H (pages 240–247)

      Valentina Saccone, Michela Palmieri, Luigia Passamano, Giulio Piluso, Germana Meroni, Luisa Politano and Vincenzo Nigro

      Article first published online: 9 NOV 2007 | DOI: 10.1002/humu.20633

    3. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations (pages 248–257)

      Ester Ballana, Nancy Govea, Rafael de Cid, Cecilia Garcia, Carles Arribas, Jordi Rosell and Xavier Estivill

      Article first published online: 12 NOV 2007 | DOI: 10.1002/humu.20639

    4. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients (pages 258–266)

      Michela Guglieri, Francesca Magri, Maria Grazia D'Angelo, Alessandro Prelle, Lucia Morandi, Carmelo Rodolico, Rachele Cagliani, Marina Mora, Francesco Fortunato, Andreina Bordoni, Roberto Del Bo, Serena Ghezzi, Serena Pagliarani, Sabrina Lucchiari, Sabrina Salani, Chiara Zecca, Costanza Lamperti, Dario Ronchi, Mohammed Aguennouz, Patrizia Ciscato, Claudia Di Blasi, Alessandra Ruggieri, Isabella Moroni, Anna Turconi, Antonio Toscano, Maurizio Moggio, Nereo Bresolin and Giacomo P. Comi

      Article first published online: 9 NOV 2007 | DOI: 10.1002/humu.20642

    5. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa (pages 267–276)

      Matthias Titeux, Valérie Pendaries, Laure Tonasso, Audrey Décha, Christine Bodemer and Alain Hovnanian

      Article first published online: 20 NOV 2007 | DOI: 10.1002/humu.20647

    6. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay (pages 277–283)

      Gisela Nogales-Gadea, Juan Carlos Rubio, Israel Fernandez-Cadenas, Ines Garcia-Consuegra, Alejandro Lucia, Ana Cabello, Elena Garcia-Arumi, Joaquin Arenas, Antoni L. Andreu and Miguel A. Martín

      Article first published online: 9 NOV 2007 | DOI: 10.1002/humu.20649

    7. PIK3CA cancer mutations display gender and tissue specificity patterns (pages 284–288)

      Silvia Benvenuti, Milo Frattini, Sabrina Arena, Carlo Zanon, Vera Cappelletti, Danila Coradini, Maria Grazia Daidone, Silvana Pilotti, Marco A. Pierotti and Alberto Bardelli

      Article first published online: 16 NOV 2007 | DOI: 10.1002/humu.20648

    8. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations (pages 289–298)

      Georg C. Schwabe, Katrin Hoffmann, Niki Tomas Loges, Daniel Birker, Colette Rossier, Margherita M. de Santi, Heike Olbrich, Manfred Fliegauf, Mike Failly, Uta Liebers, Mirella Collura, Gerhard Gaedicke, Stefan Mundlos, Ulrich Wahn, Jean-Louis Blouin, Bodo Niggemann, Heymut Omran, Stylianos E. Antonarakis and Lucia Bartoloni

      Article first published online: 16 NOV 2007 | DOI: 10.1002/humu.20656

    9. RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference (pages 299–305)

      J. Etzler, A. Peyrl, A. Zatkova, H-U. Schildhaus, A. Ficek, S. Merkelbach-Bruse, C.P. Kratz, A. Attarbaschi, J.A. Hainfellner, S. Yao, L. Messiaen, I. Slavc and K. Wimmer

      Article first published online: 20 NOV 2007 | DOI: 10.1002/humu.20657

  4. Methods

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening (pages 306–314)

      Cai-Xia Li, Qian Pan, Yong-Gang Guo, Yan Li, Hua-Fang Gao, Di Zhang, Hao Hu, Wan-Li Xing, Keith Mitchelson, Kun Xia, Pu Dai and Jing Cheng

      Article first published online: 27 DEC 2007 | DOI: 10.1002/humu.20622

    2. Genomewide SNP assay reveals mutations underlying Parkinson disease (pages 315–322)

      Javier Simon-Sanchez, Sonja Scholz, Maria del Mar Matarin, Hon-Chung Fung, Dena Hernandez, J Raphael Gibbs, Angela Britton, John Hardy and Andrew Singleton

      Article first published online: 9 NOV 2007 | DOI: 10.1002/humu.20626

    3. Allelotyping by massively parallel pyrosequencing of SNP-carrying trinucleotide threads (pages 323–329)

      Erik Pettersson, Pawel Zajac, Patrik L. Ståhl, Josefin A. Jacobsson, Robert Fredriksson, Claude Marcus, Helgi B. Schiöth, Joakim Lundeberg and Afshin Ahmadian

      Article first published online: 9 NOV 2007 | DOI: 10.1002/humu.20655

  5. Mutations in Brief

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Novel mutations in exon 2 of MATN3 affect residues within the α–helices of the A-domain and can result in the intracellular retention of mutant matrilin-3 (page 330)

      Maryline Fresquet, Gail C. Jackson, John Loughlin and Michael D. Briggs

      Article first published online: 18 JAN 2008 | DOI: 10.1002/humu.9518

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      Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase (pages 330–331)

      D. P. Dimmock, Q. Zhang, C. Dionisi-Vici, R. Carrozzo, J. Shieh, L-Y Tang, C. Truong, E. Schmitt, M. Sifry-Platt, S. Lucioli, F.M. Santorelli, C.H. Ficicioglu, M. Rodriguez, K. Wierenga, G.M. Enns, N. Longo, M.H. Lipson, H. Vallance, W.J. Craigen, F. Scaglia and L-J. Wong

      Article first published online: 18 JAN 2008 | DOI: 10.1002/humu.9519

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      Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone (page 331)

      Masaaki Shimotori, Hiroki Maruyama, Gen Nakamura, Takayuki Suyama, Fumiko Sakamoto, Masaaki Itoh, Shigeaki Miyabayashi, Takahiro Ohnishi, Norio Sakai, Mari Wataya-Kaneda, Mitsuru Kubota, Toshiyuki Takahashi, Tatsuhiko Mori, Katsuhiko Tamura, Shinji Kageyama, Nobuo Shio, Teruhiko Maeba, Hirokazu Yahagi, Motoko Tanaka, Masayo Oka, Hitoshi Sugiyama, Toshiyuki Sugawara, Noriko Mori, Hiroko Tsukamoto, Keiichi Tamagaki, Shuuji Tanda, Yuka Suzuki, Chiya Shinonaga, Jun-ichi Miyazaki, Satoshi Ishii and Fumitake Gejyo

      Article first published online: 18 JAN 2008 | DOI: 10.1002/humu.9520

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      Myoclonus-dystonia: significance of large SGCE deletions (pages 331–332)

      A. Grünewald, A. Djarmati, K. Lohmann-Hedrich, K. Farrell, J.A. Zeller, N. Allert, F. Papengut, B. Petersen, V. Fung, C.M. Sue, D. O'Sullivan, N. Mahant, A. Kupsch, R.S. Chuang, K. Wiegers, H. Pawlack, J. Hagenah, L.J. Ozelius, U. Stephani, R. Schuit, A.E. Lang, J. Volkmann, A. Münchau and C. Klein

      Article first published online: 18 JAN 2008 | DOI: 10.1002/humu.9521

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      A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans (page 332)

      Hongyan Wang, Mary D. Sammel, Gerard Tromp, Francesca Gotsch, Indrani Halder, Mark D. Shriver, Roberto Romero and Jerome F. Strauss III

      Article first published online: 18 JAN 2008 | DOI: 10.1002/humu.9522

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