Human Mutation

Cover image for Human Mutation

July 2010

Volume 31, Issue 7

Pages v–v, 763–888, E1526–E1586

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Mutations in Brief
    1. You have free access to this content
      A Possible Role for JARID2 in Cleft Lip and Palate (page v)

      Linda P. Jakobsen

      Article first published online: 25 JUN 2010 | DOI: 10.1002/humu.21308

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      South East Asian CNVs Captured (page v)

      Jiannis Ragoussis

      Article first published online: 25 JUN 2010 | DOI: 10.1002/humu.21309

  2. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Mutations in Brief
    1. You have full text access to this OnlineOpen article
  3. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Mutations in Brief
    1. Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies (pages 781–787)

      Alexander W. Wyatt, Robert J. Osborne, Helen Stewart and Nicola K. Ragge

      Article first published online: 18 MAY 2010 | DOI: 10.1002/humu.21280

  4. Research Articles

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Mutations in Brief
    1. Mutations in SOHLH1 gene associate with nonobstructive Azoospermia (pages 788–793)

      Youngsok Choi, Sanghyun Jeon, Mikyung Choi, Min-ho Lee, Miseon Park, Dong Ryul Lee, Kyu-Yeon Jun, Youngjoo Kwon, Ok-Hee Lee, Seung-Hun Song, Ji-Young Kim, Kyung-Ah Lee, Tae Ki Yoon, Aleksandar Rajkovic and Sung Han Shim

      Article first published online: 13 APR 2010 | DOI: 10.1002/humu.21264

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      Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate (pages 794–800)

      Luca Scapoli, Marcella Martinelli, Furio Pezzetti, Annalisa Palmieri, Ambra Girardi, Anna Savoia, Anna Monica Bianco and Francesco Carinci

      Article first published online: 18 MAY 2010 | DOI: 10.1002/humu.21266

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      Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis (pages 801–808)

      Satu Pekkala, Ana I. Martínez, Belén Barcelona, Igor Yefimenko, Ulrich Finckh, Vicente Rubio and Javier Cervera

      Article first published online: 18 MAY 2010 | DOI: 10.1002/humu.21272

    4. You have full text access to this OnlineOpen article
      Cystathionine β-synthase mutations: effect of mutation topology on folding and activity (pages 809–819)

      Viktor Kožich, Jitka Sokolová, Veronika Klatovská, Jakub Krijt, Miroslav Janošík, Karel Jelínek and Jan P. Kraus

      Article first published online: 18 MAY 2010 | DOI: 10.1002/humu.21273

    5. Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome (pages 820–829)

      Tojo Nakayama, Ikuo Ogiwara, Koichi Ito, Makoto Kaneda, Emi Mazaki, Hitoshi Osaka, Hideyuki Ohtani, Yushi Inoue, Tateki Fujiwara, Mitsugu Uematsu, Kazuhiro Haginoya, Shigeru Tsuchiya and Kazuhiro Yamakawa

      Article first published online: 18 MAY 2010 | DOI: 10.1002/humu.21275

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      Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel (pages 830–839)

      Katja Koeppen, Peggy Reuter, Thomas Ladewig, Susanne Kohl, Britta Baumann, Samuel G. Jacobson, Astrid S. Plomp, Christian P. Hamel, Andreas R. Janecke and Bernd Wissinger

      Article first published online: 10 MAY 2010 | DOI: 10.1002/humu.21283

    7. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? (pages 840–850)

      Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema Lalani, Lorraine Potocki, Sung-Hae Kang, Ankita Patel, Sau Wai Cheung, Frank J. Probst, Brett H. Graham, Marwan Shinawi, Arthur L. Beaudet and Pawel Stankiewicz

      Article first published online: 10 MAY 2010 | DOI: 10.1002/humu.21284

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      Genomic copy number variations in three Southeast Asian populations (pages 851–857)

      Chee-Seng Ku, Yudi Pawitan, Xueling Sim, Rick T.H. Ong, Mark Seielstad, Edmund J.D. Lee, Yik-Ying Teo, Kee-Seng Chia and Agus Salim

      Article first published online: 17 MAY 2010 | DOI: 10.1002/humu.21287

  5. Methods

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Mutations in Brief
    1. Design and validation of a metabolic disorder resequencing microarray (BRUM1) (pages 858–865)

      Christopher K. Bruce, Matthew Smith, Fatima Rahman, Zhi-feng Liu, Dominic J. McMullan, Sarah Ball, Jane Hartley, Marian A. Kroos, Lesley Heptinstall, Arnold J.J. Reuser, Arndt Rolfs, Chris Hendriksz, Deirdre A. Kelly, Timothy G. Barrett, Fiona MacDonald, Eamonn R. Maher and Paul Gissen

      Article first published online: 13 APR 2010 | DOI: 10.1002/humu.21261

    2. Assessment of complement C4 gene copy number using the paralog ratio test (pages 866–874)

      Michelle M.A. Fernando, Lora Boteva, David L. Morris, Bi Zhou, Yee Ling Wu, Marja-Liisa Lokki, Chack Yung Yu, John D. Rioux, Edward J. Hollox and Timothy J. Vyse

      Article first published online: 13 APR 2010 | DOI: 10.1002/humu.21259

    3. SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region (pages 875–885)

      Espen Melum, Sandra May, Markus B. Schilhabel, Ingo Thomsen, Tom H. Karlsen, Philip Rosenstiel, Stefan Schreiber and Andre Franke

      Article first published online: 18 MAY 2010 | DOI: 10.1002/humu.21276

  6. Meeting Reports

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Mutations in Brief
    1. You have free access to this content
      HGV2009 meeting: bigger and better studies provide more answers and more questions (pages 886–888)

      Katherine Reekie, Andres Metspalu, Stephen J. Chanock, Edison T. Liu, Elaine R. Mardis, Stephen W. Scherer, Pui-Yan Kwok and Anthony J. Brookes

      Article first published online: 18 MAY 2010 | DOI: 10.1002/humu.21270

  7. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Mutations in Brief
    1. You have free access to this content
      First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function (pages E1526–E1543)

      Elke Piters, Cavit Culha, Martiene Moester, Rutger Van Bezooijen, Dirk Adriaensen, Thomas Mueller, Stella Weidauer, Karen Jennes, Fenna de Freitas, Clemens Löwik, Jean-Pierre Timmermans, Wim Van Hul and Socrates Papapoulos

      Article first published online: 10 MAY 2010 | DOI: 10.1002/humu.21274

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      Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion (pages E1544–E1550)

      Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, Margaret Perry, Robert L.L. Smith, Andrew J. Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D. King, Michael A. Farrell, Isabelle Marty, Joel Lunardi, Nicole Monnier and Kathryn N. North

      Article first published online: 11 MAY 2010 | DOI: 10.1002/humu.21278

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      PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit (pages E1551–E1563)

      Jon A. Beck, Mark Poulter, Tracy A. Campbell, Gary Adamson, James B. Uphill, Rita Guerreiro, Graham S. Jackson, James C. Stevens, Hadi Manji, John Collinge and Simon Mead

      Article first published online: 11 MAY 2010 | DOI: 10.1002/humu.21281

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      LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood (pages E1564–E1573)

      Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meirleir, Vassili Valayannopoulos, Wolfgang Müller-Felber, Ramesh Venkateswaran, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabeth Thompson, Martin Smitka, Angela Huebner, Marie Husson, Rita Horvath, Patrick Chinnery, Frederic M. Vaz, Arnold Munnich, Orly Elpeleg, Agnès Delahodde, Yves de Keyzer and Pascale de Lonlay

      Article first published online: 17 MAY 2010 | DOI: 10.1002/humu.21282

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