Human Mutation

Cover image for Human Mutation

October 2005

Volume 26, Issue 4

Pages 285–397

  1. Mutation Update

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
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      Mutations in the holocarboxylase synthetase gene HLCS (pages 285–290)

      Yoichi Suzuki, Xue Yang, Yoko Aoki, Shigeo Kure and Yoichi Matsubara

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.20204

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  2. Rapid Communication

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer (pages 298–302)

      John L. Hopper, Vanessa M. Hayes, Amanda B. Spurdle, Georgia Chenevix-Trench, Mark A. Jenkins, Roger L. Milne, Gillian S. Dite, Andrea A. Tesoriero, Margaret R.E. McCredie, Graham G. Giles and Melissa C. Southey

      Version of Record online: 24 AUG 2005 | DOI: 10.1002/humu.20237

  3. Rapid Communications

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers (pages 303–307)

      Jonathan A. Cohn, John P. Neoptolemos, Jinong Feng, Jin Yan, Zefei Jiang, William Greenhalf, Christopher McFaul, Roger Mountford and Steve S. Sommer

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.20232

  4. Research Articles

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA (pages 308–314)

      Kyung Hoon Paik, Seng Mi Song, Chang Seok Ki, Han-Wook Yu, Jung Sim Kim, Ki Hoon Min, Soo Hee Chang, Eun Jae Yoo, In Jung Lee, Eun Kyung Kwan, Sun Joo Han and Dong-Kyu Jin

      Version of Record online: 22 AUG 2005 | DOI: 10.1002/humu.20205

    2. Rare missense variants in ATP1A2 in families with clustering of common forms of migraine (pages 315–321)

      Unda Todt, Martin Dichgans, Karin Jurkat-Rott, Axel Heinze, Giovanni Zifarelli, Jan B. Koenderink, Ingrid Goebel, Vera Zumbroich, Anne Stiller, Alfredo Ramirez, Thomas Friedrich, Hartmut Göbel and Christian Kubisch

      Version of Record online: 18 AUG 2005 | DOI: 10.1002/humu.20229

  5. Research Article

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation (pages 322–331)

      Tanja Ilmarinen, Petra Eskelin, Maria Halonen, Taina Rüppell, Riika Kilpikari, Gilberto Duran Torres, Hannele Kangas and Ismo Ulmanen

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/humu.20224

    2. Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates (pages 332–342)

      Hidehito Inagaki, Tamae Ohye, Hiroshi Kogo, Kouji Yamada, Hiroe Kowa, Tamim H. Shaikh, Beverly S. Emanuel and Hiroki Kurahashi

      Version of Record online: 22 AUG 2005 | DOI: 10.1002/humu.20228

    3. Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint (pages 343–350)

      Sharon A. Savage, Brian J. Stewart, Andrew Eckert, Maureen Kiley, Jason S. Liao and Stephen J. Chanock

      Version of Record online: 18 AUG 2005 | DOI: 10.1002/humu.20226

  6. Research Articles

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis (pages 351–361)

      Katja-Martina Eckl, Peter Krieg, Wolfgang Küster, Heiko Traupe, Françoise André, Nadine Wittstruck, Gerhard Fürstenberger and Hans Christian Hennies

      Version of Record online: 22 AUG 2005 | DOI: 10.1002/humu.20236

    2. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions (pages 362–373)

      Jian-Min Chen, Nadia Chuzhanova, Peter D. Stenson, Claude Férec and David N. Cooper

      Version of Record online: 18 AUG 2005 | DOI: 10.1002/humu.20230

  7. Methods

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations (pages 374–383)

      Nanna D. Rendtorff, Bolette Bjerregaard, Morten Frödin, Susanne Kjaergaard, Hanne Hove, Flemming Skovby, Karen Brøndum-Nielsen and Marianne Schwartz

      Version of Record online: 19 AUG 2005 | DOI: 10.1002/humu.20227

    2. Whole genome SNP arrays using DNA derived from formalin-fixed, paraffin-embedded ovarian tumor tissue (pages 384–389)

      Ella R. Thompson, Shane C. Herbert, Susan M. Forrest and Ian G. Campbell

      Version of Record online: 22 AUG 2005 | DOI: 10.1002/humu.20220

  8. Letter to the Editor

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature (pages 390–392)

      Alessandra Splendore, Isis Q. Magalhães and Maria S. Pombo-de-Oliveira

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.20233

  9. Mutations in Brief

    1. Top of page
    2. Mutation Update
    3. Rapid Communication
    4. Rapid Communications
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Methods
    9. Letter to the Editor
    10. Mutations in Brief
    1. You have free access to this content
      A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis (page 393)

      Pia Alhopuro, Antony R. Parker, Rainer Lehtonen, Susa Enholm, Heikki J. Järvinen, Jukka-Pekka Mecklin, Auli Karhu, James R. Eshleman and Lauri A. Aaltonen

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9368

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      Linear allele-specific long-range amplification: a novel method of long-range molecular haplotyping (pages 393–394)

      Wei-Ming Wu, Hsiang-Ju Tsai, Jong-Hwei S. Pang, Tzu-Hao Wang, Hsin-Shih Wang, Hong-Shang Hong and Yun-Shien Lee

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9369

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      Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli (page 394)

      Gitana Aceto, Maria Cristina Curia, Serena Veschi, Laura De Lellis, Sandra Mammarella, Teresa Catalano, Liborio Stuppia, Giandomenico Palka, Rosa Valanzano, Francesco Tonelli, Vincenzo Casale, Vittoria Stigliano, Francesco Cetta, Pasquale Battista, Renato Mariani-Costantini and Alessandro Cama

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9370

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      Thromboxane synthase (TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure (pages 394–395)

      Cornelia M. Ulrich, Christopher S. Carlson, Justin Sibert, Elizabeth M. Poole, Joon-Ho Yu, Lee-Ho Wang, Rachel Sparks, John D. Potter and Jeannette Bigler

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9371

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      Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings (page 395)

      Maria Cristina Vigone, Laura Fugazzola, Ilaria Zamproni, Arianna Passoni, Stefania Di Candia, Giuseppe Chiumello, Luca Persani and Giovanna Weber

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9372

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      Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin (pages 395–396)

      L. Vilarinho, M.L. Cardoso, P. Gaspar, C. Barbot, L. Azevedo, L. Diogo, M. Santos, I. Carrilho, I. Fineza, F. Kok, R. Chorão, P. Alegria, E. Martins, J. Teixeira, H. Cabral Fernandes, N.M. Verhoeven, G.S. Salomons, F.M. Santorelli, P. Cabral, A. Amorim and C. Jakobs

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9373

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      Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment (page 396)

      Regie Lyn P. Santos, Muhammad Wajid, Mohammad Nasim Khan, Nathan McArthur, Thanh L. Pham, Attya Bhatti, Kwanghyuk Lee, Saba Irshad, Asif Mir, Kai Yan, Maria H. Chahrour, Muhammad Ansar, Wasim Ahmad and Suzanne M. Leal

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9374

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      The human TBX5 gene mutation database (page 397)

      Wolfram Heinritz, Lin Shou, Andre Moschik and Ursula G. Froster

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9375

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      Lafora progressive myoclonus epilepsy mutation database-EPM2A and NHLRC1 (EMP2B) genes (page 397)

      Leonarda Ianzano, Junjun Zhang, Elayne M. Chan, Xiao-Chu Zhao, Hannes Lohi, Stephen W. Scherer and Berge A. Minassian

      Version of Record online: 30 AUG 2005 | DOI: 10.1002/humu.9376

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