Human Mutation

Cover image for Human Mutation

May 2007

Volume 28, Issue 5

Pages 417–526

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Meeting Reports
    4. Mutations in Brief
    1. Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus (pages 417–423)

      Shahid Y. Khan, Zubair M. Ahmed, Muhammad I. Shabbir, Shin-ichiro Kitajiri, Saeeda Kalsoom, Saba Tasneem, Sara Shayiq, Arabandi Ramesh, Srikumari Srisailpathy, Shaheen N. Khan, Richard J.H. Smith, Saima Riazuddin, Thomas B. Friedman and Sheikh Riazuddin

      Article first published online: 16 JAN 2007 | DOI: 10.1002/humu.20469

    2. Extensive gene conversion at the PMS2 DNA mismatch repair locus (pages 424–430)

      Bruce E. Hayward, Michel De Vos, Elizabeth M.A. Valleley, Ruth S. Charlton, Graham R. Taylor, Eamonn Sheridan and David T. Bonthron

      Article first published online: 25 JAN 2007 | DOI: 10.1002/humu.20457

    3. Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis (pages 431–440)

      Zhibin Hu, Haifeng Wang, Minhua Shao, Guangfu Jin, Weiwei Sun, Yi Wang, Hongliang Liu, Ying Wang, Hongxia Ma, Ji Qian, Li Jin, Qingyi Wei, Daru Lu, Wei Huang and Hongbing Shen

      Article first published online: 6 FEB 2007 | DOI: 10.1002/humu.20462

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      Patterns of variation in DNA segments upstream of transcription start sites (pages 441–450)

      Damian Labuda, Catherine Labbé, Sylvie Langlois, Jean-Francois Lefebvre, Virginie Freytag, Claudia Moreau, Jakub Sawicki, Patrick Beaulieu, Tomi Pastinen, Thomas J. Hudson and Daniel Sinnett

      Article first published online: 1 FEB 2007 | DOI: 10.1002/humu.20463

    5. CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci (pages 451–458)

      Matylda Rozanska, Krzysztof Sobczak, Anna Jasinska, Marek Napierala, Danuta Kaczynska, Anna Czerny, Magdalena Koziel, Piotr Kozlowski, Marta Olejniczak and Wlodzimierz J. Krzyzosiak

      Article first published online: 16 JAN 2007 | DOI: 10.1002/humu.20466

    6. Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 (pages 459–468)

      Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, Tiziano Pramparo, Silvana Beri, Maria Clara Bonaglia, Sabrina Giglio, Maurizio Genuardi, Jesùs Argente, Mariano Rocchi and Orsetta Zuffardi

      Article first published online: 29 JAN 2007 | DOI: 10.1002/humu.20465

    7. Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis (pages 469–476)

      Orsolya Király, Arnaud Boulling, Heiko Witt, Cédric Le Maréchal, Jian-Min Chen, Jonas Rosendahl, Cinzia Battaggia, Thomas Wartmann, Miklós Sahin-Tóth and Claude Férec

      Article first published online: 1 FEB 2007 | DOI: 10.1002/humu.20471

    8. Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information (pages 477–485)

      A. Osorio, R.L. Milne, E. Honrado, A. Barroso, O. Diez, R. Salazar, M. de la Hoya, A. Vega and J. Benítez

      Article first published online: 5 FEB 2007 | DOI: 10.1002/humu.20470

    9. Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan (pages 486–494)

      Yi-Wen Lin, Lea Chia-Ling Hsu, Pao-Lin Kuo, William J. Huang, Han-Sun Chiang, Shauh-Der Yeh, Tuan-Yi Hsu, Yueh-Hsiang Yu, Kuang-Nan Hsiao, Rita M. Cantor and Pauline H. Yen

      Article first published online: 6 FEB 2007 | DOI: 10.1002/humu.20473

    10. Comprehensive evaluation of allele frequency differences of MC1R variants across populations (pages 495–505)

      Meg R. Gerstenblith, Alisa M. Goldstein, Maria Concetta Fargnoli, Ketty Peris and Maria Teresa Landi

      Article first published online: 5 FEB 2007 | DOI: 10.1002/humu.20476

    11. Impact of the Alcohol-Dehydrogenase (ADH) 1C and ADH1B polymorphisms on drinking behavior in nonalcoholic Japanese (pages 506–510)

      Keitaro Matsuo, Akio Hiraki, Kaoru Hirose, Hidemi Ito, Takeshi Suzuki, Kenji Wakai and Kazuo Tajima

      Article first published online: 6 FEB 2007 | DOI: 10.1002/humu.20477

    12. Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis (pages 511–516)

      Esther Pomares, Gemma Marfany, Ma José Brión, Angel Carracedo and Roser Gonzàlez-Duarte

      Article first published online: 5 FEB 2007 | DOI: 10.1002/humu.20479

  2. Meeting Reports

    1. Top of page
    2. Research Articles
    3. Meeting Reports
    4. Mutations in Brief
    1. The 2006 Human Genome Variation Society scientific meeting (pages 517–521)

      William S. Oetting

      Article first published online: 13 MAR 2007 | DOI: 10.1002/humu.20489

  3. Mutations in Brief

    1. Top of page
    2. Research Articles
    3. Meeting Reports
    4. Mutations in Brief
    1. You have free access to this content
      The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies (page 522)

      Kaate R.J. Vanmolkot, Elena Babini, Boukje de Vries, Anine H. Stam, Tobias Freilinger, Gisela M. Terwindt, Lisa Norris, Joost Haan, Rune R. Frants, Nabih M. Ramadan, Michel D. Ferrari, Michael Pusch, Arn M.J.M. van den Maagdenberg and Martin Dichgans

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9486

    2. You have free access to this content
      Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2) (pages 522–523)

      Vedam L. Ramprasad, Neil D. Ebenezer, Tin Aung, Rama Rajagopal, Victor H.K. Yong, Stephen J. Tuft, Deepa Viswanathan, Mohamed F. El-Ashry, Petra Liskova, Donald T.H. Tan, Shomi S. Bhattacharya, Govindasamy Kumaramanickavel and Eranga N. Vithana

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9487

    3. You have free access to this content
      Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome) (page 523)

      Anthony Olind Fedele, Mirella Filocamo, Maja Di Rocco, Giovanna Sersale, Torben Lübke, Paola di Natale, Maria Pia Cosma and Andrea Ballabio

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9488

    4. You have free access to this content
      Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation (pages 523–524)

      Rana Khaddour, Ursula Smith, Lekbir Baala, Jéléna Martinovic, Davina Clavering, Rizwana Shaffiq, Catherine Ozilou, Andrew Cullinane, Mira Kyttälä, Stavit Shalev, Sophie Audollent, Camille d'Humières, Noman Kadhom, Chantal Esculpavit, Géraldine Viot, Claire Boone, Christine Oien, Férechté Encha-Razavi, Philip A Batman, Christopher P Bennett, C Geoffrey Woods, Joelle Roume, Stanislas Lyonnet, Emmanuelle Génin, Martine Le Merrer, Arnold Munnich, Marie-Claire Gubler, Phillip Cox, Fiona Macdonald, Michel Vekemans, Colin A. Johnson and Tania Attié-Bitach

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9489

    5. You have free access to this content
      Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis (page 524)

      Michela Donnarumma, Stefano Regis, Barbara Tappino, Camillo Rosano, Stefania Assereto, Fabio Corsolini, Maja Di Rocco and Mirella Filocamo

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9490

    6. You have free access to this content
      Mutational analysis of CACNA1G in idiopathic generalized epilepsy (pages 524–525)

      Baljinder Singh, Arnaud Monteil, Isabelle Bidaud, Yoshihisa Sugimoto, Toshimitsu Suzuki, Shin-ichiro Hamano, Hirokazu Oguni, Makiko Osawa, Maria E. Alonso, Antonio V. Delgado-Escueta, Yushi Inoue, Norio Yasui-Furukori, Sunao Kaneko, Philippe Lory and Kazuhiro Yamakawa

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9491

    7. You have free access to this content
      Novel mutations in FRMD7 in X-linked congenital nystagmus (page 525)

      Daniel F. Schorderet, Leila Tiab, Marie-Claire Gaillard, Birgit Lorenz, Georges Klainguti, John B. Kerrison, Elias I. Traboulsi and Francis L. Munier

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9492

    8. You have free access to this content
      Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis (pages 525–526)

      Susan J Ramus, Patricia A Harrington, Carole Pye, Susan Peock, Margaret R Cook, Mark J Cox, Ian J Jacobs, Richard A DiCioccio, Alice S Whittemore, M Steven Piver, Douglas F. Easton, Bruce AJ Ponder, Paul DP Pharoah and Simon A Gayther

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9493

    9. You have free access to this content
      Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians (page 526)

      Anubha Mahajan, Sreenivas Chavali, Saurabh Ghosh, Madhulika Kabra, Madhumita Roy Chowdhury and Dwaipayan Bharadwaj

      Article first published online: 30 MAR 2007 | DOI: 10.1002/humu.9494

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