Human Mutation

Cover image for Human Mutation

April 2004

Volume 23, Issue 4

Pages 289–400

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letter to the Editors
    5. Erratum
    6. Mutations in Brief
    1. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France (pages 289–299)

      Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefebvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie-France Carette, Jean-François Cordier, Stéphane Pinson, Florent Soubrier, Alain Calender and Sophie Giraud

      Version of Record online: 2 MAR 2004 | DOI: 10.1002/humu.20017

    2. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy (pages 300–305)

      Susanna Ranta, Meral Topcu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Isil Saatci, Andreas Dufke, Herbert Enders, Keith Pohl, Yves Alembik, Wayne A. Mitchell, Sara E. Mole and Anna-Elina Lehesjoki

      Version of Record online: 2 MAR 2004 | DOI: 10.1002/humu.20018

    3. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis (pages 306–317)

      Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Fabienne Barbet, Dominique Ducroq, Patrick Calvas, Hélène Dollfus, Christian Hamel, Tuija Lopponen, Francis Munier, Louisa Santos, Stavit Shalev, Dimitrios Zafeiriou, Jean-Louis Dufier, Arnold Munnich, Jean-Michel Rozet and Josseline Kaplan

      Version of Record online: 2 MAR 2004 | DOI: 10.1002/humu.20010

    4. Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer (pages 318–326)

      Paola Baldinu, Antonio Cossu, Antonella Manca, Maria P. Satta, Maria C. Sini, Carla Rozzo, Salvatore Dessole, PierLuigi Cherchi, Fernando Gianfrancesco, Adriana Pintus, Annangela Carboni, Angelo Deiana, Francesco Tanda and Giuseppe Palmieri

      Version of Record online: 2 MAR 2004 | DOI: 10.1002/humu.20015

    5. Genetically heterogeneous selective intestinal malabsorption of vitamin B12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East (pages 327–333)

      Stephan M. Tanner, Zhongyuan Li, Ryan Bisson, Ceren Acar, Cihan Öner, Reyhan Öner, Mualla Çetin, Mohamed A. Abdelaal, Essam A. Ismail, Willy Lissens, Ralf Krahe, Harald Broch, Ralph Gräsbeck and Albert de la Chapelle

      Version of Record online: 3 MAR 2004 | DOI: 10.1002/humu.20014

    6. Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Aβ42 levels and risk for Alzheimer disease (pages 334–342)

      Nilüfer Ertekin-Taner, Mariet Allen, Daniel Fadale, Leah Scanlin, Linda Younkin, Ronald C. Petersen, Neill Graff-Radford and Steven G. Younkin

      Version of Record online: 2 MAR 2004 | DOI: 10.1002/humu.20016

    7. Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms (pages 343–357)

      Marie-Pierre Audrézet, Jian-Min Chen, Odile Raguénès, Nadia Chuzhanova, Karine Giteau, Cédric Le Maréchal, Isabelle Quéré, David N. Cooper and Claude Férec

      Version of Record online: 2 MAR 2004 | DOI: 10.1002/humu.20009

    8. Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to β-amyloid metabolism (pages 358–367)

      Hagit Katzov, Katy Chalmers, Juni Palmgren, Niels Andreasen, Boo Johansson, Nigel J. Cairns, Margaret Gatz, Gordon K. Wilcock, Seth Love, Nancy L. Pedersen, Anthony J. Brookes, Kaj Blennow, Patrick G. Kehoe and Jonathan A. Prince

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/humu.20012

  2. Methods

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letter to the Editors
    5. Erratum
    6. Mutations in Brief
    1. Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dye (pages 368–378)

      Detlef Boehm, Sabine Herold, Alma Kuechler, Thomas Liehr and Franco Laccone

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/humu.20011

    2. Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method (pages 379–384)

      Isabelle Tournier, Grégory Raux, Fréderic Di Fiore, Isabelle Maréchal, Carole Leclerc, Cosette Martin, Qing Wang, Marie-Pierre Buisine, Dominique Stoppa-Lyonnet, Sylviane Olschwang, Thierry Frébourg and Mario Tosi

      Version of Record online: 4 MAR 2004 | DOI: 10.1002/humu.20008

    3. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR (pages 385–391)

      Franziska Joncourt, Barbara Neuhaus, Kristin Jostarndt-Foegen, Stephanie Kleinle, Bernhard Steiner and Sabina Gallati

      Version of Record online: 4 MAR 2004 | DOI: 10.1002/humu.20007

  3. Letter to the Editors

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letter to the Editors
    5. Erratum
    6. Mutations in Brief
  4. Erratum

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letter to the Editors
    5. Erratum
    6. Mutations in Brief
    1. Bridging structural biology and genetics by computational methods: An investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome (page 394)

      Jian Hui Wu, Bruce Gottlieb, Gerald Batist, Traian Sulea, Enrico O. Purisima, Lenore K. Beitel and Mark Trifiro

      Version of Record online: 8 MAR 2004 | DOI: 10.1002/humu.20041

    2. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (page 395)

      Franco Laccone, Ivonne Jünemann, Sharon Whatley, Rhian Morgan, Rachel Butler, Peter Huppke and David Ravine

      Version of Record online: 8 MAR 2004 | DOI: 10.1002/humu.20042

  5. Mutations in Brief

    1. Top of page
    2. Research Articles
    3. Methods
    4. Letter to the Editors
    5. Erratum
    6. Mutations in Brief
    1. You have free access to this content
      Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly (page 396)

      John F. Bateman, Susanna Freddi, Robyn McNeil, Elizabeth Thompson, Pia Hermanns, Ravi Savarirayan and Shireen R. Lamandé

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9222

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      Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency (page 396)

      Federica Sangiuolo, Mauro Magnani, Dwight Stambolian and Giuseppe Novelli

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9223

    3. You have free access to this content
      Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations (page 397)

      J. Vandrovcová, J. Štekrová, V. Kebrdlová and M. Kohoutová

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9224

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      Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation (page 397)

      Jian-Hua Feng, Toshiyuki Yamamoto, Eiji Nanba, Haruaki Ninomiya, Akira Oka and Kousaku Ohno

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9225

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      BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic (pages 397–398)

      Lenka Foretova, Eva Machackova, Marie Navratilova, Hana Pavlu, Marcela Hruba, Miroslava Lukesova and Dalibor Valik

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9226

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      Wilson disease: Novel mutations in the ATP7B gene and clinical correlation in Brazilian patients (page 398)

      Marta M. Deguti, Janine Genschel, Eduardo L.R. Cancado, Egberto R. Barbosa, Bettina Bochow, Marcos Mucenic, Gilda Porta, Herbert Lochs, Flair J. Carrilho and Hartmut H.-J. Schmidt

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9227

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      Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA) (pages 398–399)

      Marija Velickovic, Madhuri L. Prasad, Susan A. Weston and Elizabeth M. Benson

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9228

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      The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination “hot-spot” at the MEFV locus (page 399)

      Anna Aldea, Francesc Calafell, Juan I. Aróstegui, Oscar Lao, Josefa Rius, Susana Plaza, Montserrat Masó, Jordi Vives, Joan Buades and Jordi Yagüe

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9229

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      Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients (pages 399–400)

      Liat Ries-Levavi, Tsofia Ish-Shalom, Moshe Frydman, Dorit Lev, Shirley Cohen, Gad Barkai, Boleslaw Goldman, Peter Byers and Eitan Friedman

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9230

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      CYLD mutation causes multiple familial trichoepithelioma in three Chinese families (page 400)

      Guangyong Zheng, Landian Hu, Wei Huang, Kaide Chen, Xuejun Zhang, Sen Yang, Jianfang Sun, Yiqun Jiang, Guangbin Luo and Xiangyin Kong

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9231

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      HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis (page 400)

      S. Majore, F. Binni, A. Pennese, A. De Santis, A. Crisi and P. Grammatico

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/humu.9232

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