Human Mutation

Cover image for Human Mutation

March 2008

Volume 29, Issue 3

Pages 333–452

  1. Databases

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
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      NPC-db, a Niemann-Pick type C disease gene variation database (pages 345–350)

      Heiko Runz, Dirk Dolle, Anna Melissa Schlitter and Johannes Zschocke

      Version of Record online: 14 DEC 2007 | DOI: 10.1002/humu.20636

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      The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases (pages 351–360)

      Ildiko Szeverenyi, Andrew J. Cassidy, Cheuk Wang Chung, Bernett T.K. Lee, John E.A. Common, Stephen C. Ogg, Huijia Chen, Shu Yin Sim, Walter L.P. Goh, Kee Woei Ng, John A. Simpson, Li Lian Chee, Goi Hui Eng, Bin Li, Declan P. Lunny, Danny Chuon, Aparna Venkatesh, Kian Hoe Khoo, W.H. Irwin McLean, Yun Ping Lim and E. Birgitte Lane

      Version of Record online: 21 NOV 2007 | DOI: 10.1002/humu.20652

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      Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebase (pages 361–366)

      Yum L. Yip, Maria Famiglietti, Arnaud Gos, Paula D. Duek, Fabrice P.A. David, Alain Gateau and Amos Bairoch

      Version of Record online: 3 JAN 2008 | DOI: 10.1002/humu.20671

  2. Research Articles

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer (pages 367–374)

      Rebecca A. Barnetson, Nicola Cartwright, Annelot van Vliet, Naila Haq, Kate Drew, Susan Farrington, Nicola Williams, Jon Warner, Harry Campbell, Mary E. Porteous and Malcolm G. Dunlop

      Version of Record online: 21 NOV 2007 | DOI: 10.1002/humu.20635

    2. Platelet receptor P2RY12 haplotypes predict restenosis after percutaneous coronary interventions (pages 375–380)

      Goran Rudež, Douwe Pons, Frank Leebeek, Pascalle Monraats, Marlies Schrevel, Aeilko Zwinderman, Robbert de Winter, René Tio, Pieter Doevendans, Wouter Jukema and Moniek de Maat

      Version of Record online: 3 JAN 2008 | DOI: 10.1002/humu.20641

    3. Polymorphisms of LIG4 and XRCC4 involved in the NHEJ pathway interact to modify risk of glioma (pages 381–389)

      Yanhong Liu, Keke Zhou, Haishi Zhang, Yin Yao Shugart, Lina Chen, Zhonghui Xu, Yu Zhong, Hongliang Liu, Li Jin, Qingyi Wei, Fengping Huang, Daru Lu and Liangfu Zhou

      Version of Record online: 28 DEC 2007 | DOI: 10.1002/humu.20645

    4. Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous β-catenin (pages 390–397)

      Wael M. Abdel-Rahman, Juliya Kalinina, Soheir Shoman, Saad Eissa, Miina Ollikainen, Outi Elomaa, Anna V. Eliseenkova, Ralf Bützow, Moosa Mohammadi and Päivi Peltomäki

      Version of Record online: 28 DEC 2007 | DOI: 10.1002/humu.20653

    5. Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array (pages 398–408)

      Teresita Díaz de Ståhl, Johanna Sandgren, Arkadiusz Piotrowski, Helena Nord, Robin Andersson, Uwe Menzel, Adam Bogdan, Ann-Charlotte Thuresson, Andrzej Poplawski, Desiree von Tell, Caisa M. Hansson, Amir I. Elshafie, Gehad ElGhazali, Stephan Imreh, Magnus Nordenskjöld, Meena Upadhyaya, Jan Komorowski, Carl E.G. Bruder and Jan P. Dumanski

      Version of Record online: 30 NOV 2007 | DOI: 10.1002/humu.20659

    6. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease (pages 409–417)

      Alessandro Pecci, Emanuele Panza, Núria Pujol-Moix, Catherine Klersy, Filomena Di Bari, Valeria Bozzi, Paolo Gresele, Stefan Lethagen, Fabrizio Fabris, Carlo Dufour, Antonio Granata, Michael Doubek, Carmine Pecoraro, Pasi A. Koivisto, Paula G. Heller, Achille Iolascon, Patrizia Alvisi, Dirk Schwabe, Erica De Candia, Bianca Rocca, Umberto Russo, Ugo Ramenghi, Patrizia Noris, Marco Seri, Carlo L. Balduini and Anna Savoia

      Version of Record online: 4 DEC 2007 | DOI: 10.1002/humu.20661

    7. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing (pages 418–426)

      Edgar A. Otto, Juliana Helou, Susan J. Allen, John F. O'Toole, Eric L. Wise, Shazia Ashraf, Massimo Attanasio, Weibin Zhou, Matthias T.F. Wolf and Friedhelm Hildebrandt

      Version of Record online: 12 DEC 2007 | DOI: 10.1002/humu.20669

  3. Methods

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Increased forensic efficiency of DNA fingerprints through simultaneous resolution of length and nucleotide variability by high-performance mass spectrometry (pages 427–432)

      Herbert Oberacher, Florian Pitterl, Gabriela Huber, Harald Niederstätter, Martin Steinlechner and Walther Parson

      Version of Record online: 12 DEC 2007 | DOI: 10.1002/humu.20627

    2. Detailed analysis of 22q11.2 with a high density MLPA probe set (pages 433–440)

      G.R. Jalali, J.A.S. Vorstman, Ab Errami, R. Vijzelaar, J. Biegel, T. Shaikh and B.S. Emanuel

      Version of Record online: 21 NOV 2007 | DOI: 10.1002/humu.20640

    3. Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD) (pages 441–450)

      Steven Bentivegna, Jianbiao Zheng, Eugeni Namsaraev, Victoria E.H. Carlton, Adam Pavlicek, Martin Moorhead, Farooq Siddiqui, Zhiyong Wang, Liana Lee, James S. Ireland, Kent Suyenaga, Thomas D. Willis, Malek Faham and Albert B. Seymour

      Version of Record online: 10 JAN 2008 | DOI: 10.1002/humu.20672

  4. Mutations in Brief

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
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      Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II (page 451)

      Bo Dreyer, Vigdis Brox, Lisbeth Tranebjærg, Thomas Rosenberg, Andrè M. Sadeghi, Claes Möller and Øivind Nilssen

      Version of Record online: 13 FEB 2008 | DOI: 10.1002/humu.9524

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      A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons (page 451)

      C.K. Ridout, P. Keighley, S. Krywawych, R.M. Brown and G.K. Brown

      Version of Record online: 13 FEB 2008 | DOI: 10.1002/humu.9525

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      Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing (page 452)

      Elvir Becirovic, Inga Ebermann, Ditta Nagy, Eberhart Zrenner, Mathias Wolfgang Seeliger and Hanno Jörn Bolz

      Version of Record online: 13 FEB 2008 | DOI: 10.1002/humu.9526

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      Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain (page 452)

      Charles Fouillade, Hugues Chabriat, Florence Riant, Manuèle Mine, Minh Arnoud, Laurent Magy, Marie Germaine Bousser, Elisabeth Tournier-Lasserve and Anne Joutel

      Version of Record online: 13 FEB 2008 | DOI: 10.1002/humu.9527

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