Human Mutation

Cover image for Human Mutation

November 2006

Volume 27, Issue 11

Pages 1065–1160

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letters to the Editor
    5. Errata
    6. Mutations in Brief
    1. Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase α sites (pages 1065–1071)

      John Christodoulou, Hugh J. Craig, David C. Walker, Linda S. Weaving, Christopher E. Pearson and Roderick R. McInnes

      Version of Record online: 29 AUG 2006 | DOI: 10.1002/humu.20352

    2. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome (pages 1082–1091)

      Morgane Stum, Claire-Sophie Davoine, Savine Vicart, Léna Guillot-Noël, Haluk Topaloglu, Francisco Javier Carod-Artal, Hülya Kayserili, Fayçal Hentati, Luciano Merlini, Jon Andoni Urtizberea, EL-Hadi Hammouda, Phuc Canh Quan, Bertrand Fontaine and Sophie Nicole

      Version of Record online: 22 AUG 2006 | DOI: 10.1002/humu.20388

    3. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome (pages 1092–1103)

      Kyu-Seon Oh, Sikandar G. Khan, N.G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan Lehmann, Peter S. Friedmann, Steffen Emmert, Alexi Gratchev, Katherine Lachlan, Anneke Lucassan, Carl C. Baker and Kenneth H. Kraemer

      Version of Record online: 31 AUG 2006 | DOI: 10.1002/humu.20392

    4. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing (pages 1104–1114)

      Eva Pros, Sara Larriba, Eva López, Anna Ravella, M. Lluïsa Gili, Helena Kruyer, Joan Valls, Eduard Serra and Conxi Lázaro

      Version of Record online: 25 AUG 2006 | DOI: 10.1002/humu.20396

    5. Long contiguous stretches of homozygosity in the human genome (pages 1115–1121)

      Ling-Hui Li, Sheng-Feng Ho, Chien-Hsiun Chen, Chun-Yu Wei, Wan-Ching Wong, Li-Ying Li, Shuen-Iu Hung, Wen-Hung Chung, Wen-Han Pan, Ming-Ta M. Lee, Fuu-Jen Tsai, Ching-Fen Chang, Jer-Yuarn Wu and Yuan-Tsong Chen

      Version of Record online: 5 SEP 2006 | DOI: 10.1002/humu.20399

    6. Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066–6T>G (IVS10–6T>G) from the Breast Cancer Family Registry (pages 1122–1128)

      J.L. Bernstein, S. Teraoka, M.C. Southey, M.A. Jenkins, I.L. Andrulis, J.A. Knight, E.M. John, R. Lapinski, A.L. Wolitzer, A.S. Whittemore, D. West, D. Seminara, E.R. Olson, A.B. Spurdle, G. Chenevix-Trench, G.G. Giles, J.L. Hopper and P. Concannon

      Version of Record online: 6 SEP 2006 | DOI: 10.1002/humu.20415

  2. Methods

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letters to the Editor
    5. Errata
    6. Mutations in Brief
    1. SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs (pages 1129–1134)

      Abdou ElSharawy, Carl Manaster, Markus Teuber, Philip Rosenstiel, Ruta Kwiatkowski, Klaus Huse, Matthias Platzer, Albert Becker, Peter Nürnberg, Stefan Schreiber and Jochen Hampe

      Version of Record online: 25 AUG 2006 | DOI: 10.1002/humu.20377

    2. A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness (pages 1135–1142)

      Juan R. González, Wenyi Wang, Ester Ballana and Xavier Estivill

      Version of Record online: 29 AUG 2006 | DOI: 10.1002/humu.20390

    3. Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments (pages 1143–1150)

      Marianne Stef, Delphine Simon, Ingrid Burgelin, Isabelle Guisle, Catherine Chevalier, Marie-Ange Delrue, Didier Lacombe, Jean Léger and Benoît Arveiler

      Version of Record online: 1 SEP 2006 | DOI: 10.1002/humu.20398

  3. Letters to the Editor

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letters to the Editor
    5. Errata
    6. Mutations in Brief
    1. MUT-TP53: a versatile matrix for TP53 mutation verification and publication (pages 1151–1154)

      Thierry Soussi, Jean Michel Rubio-Nevado and Chikashi Ishioka

      Version of Record online: 29 AUG 2006 | DOI: 10.1002/humu.20395

  4. Errata

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letters to the Editor
    5. Errata
    6. Mutations in Brief
    1. Long-range PCR facilitates the identification of PMS2-specific mutations (page 1155)

      Mark Clendenning, Heather Hampel, Jennifer LaJeunesse, Annika Lindblom, Jan Lockman, Mef Nilbert, Leigha Senter, Kaisa Sotamaa and Albert de la Chapelle

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.20437

    2. High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1 (page 1156)

      Allan J. Richards, Maureen Laidlaw, Joanne Whittaker, Becky Treacy, Harjeet Rai, Philip Bearcroft, David M. Baguley, Arabella Poulson, Alan Ang, John D. Scott and Martin P. Snead

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.20438

  5. Mutations in Brief

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letters to the Editor
    5. Errata
    6. Mutations in Brief
    1. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2 (page 1157)

      Mark M. Awad, Darshan Dalal, Crystal Tichnell, Cynthia James, April Tucker, Theodore Abraham, Philip J. Spevak, Hugh Calkins and Daniel P. Judge

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.9461

    2. Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients (page 1157)

      Cindy Krause, Hendrik Rosewich, Melissa Thanos and Jutta Gärtner

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.9462

    3. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics (page 1158)

      Nira Schreyer-Shafir, Marjan Huizing, Yair Anikster, Ziva Nusinker, Idit Bejarano-Achache, Genia Maftzir, Luba Resnik, Amanda Helip-Wooley, Wendy Westbroek, Libe Gradstein, Ada Rosenmann and Anat Blumenfeld

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.9463

    4. Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment (pages 1158–1159)

      B. Haack, K. Schmalisch, M. Palmada, C. Böhmer, N. Kohlschmidt, A. Keilmann, U. Zechner, A. Limberger, S. Beckert, H.P. Zenner, F. Lang and S. Kupka

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.9464

    5. Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia (page 1159)

      Ada Repiso, Baldomero Oliva, Joan-Lluis Vives-Corrons, Ernest Beutler, José Carreras and Fernando Climent

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.9466

    6. Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases (page 1160)

      Lorne Lonie, Daniel E. Porter, Maria Fraser, Trevor Cole, Carol Wise, Laura Yates, Emma Wakeling, Ed Blair, Eva Morava, Anthony P. Monaco and Jiannis Ragoussis

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.9467

    7. Erratum: Molecular bases of antithrombin deficiency: twenty-two novel mutations in the antithrombin gene (page 1160)

      Véronique Picard, Ulrike Nowak-Göttl, Christine Biron-Andreani, Marc Fouassier, Corinne Frere, Michèle Goualt-Heilman, Emmanuel de Maistre, Sandra Regina, Lucia Rugeri, Catherine Ternisien, Catherine Trichet, Christine Vergnes, Martine Aiach and Martine Alhenc-Gelas

      Version of Record online: 13 OCT 2006 | DOI: 10.1002/humu.9468

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