Human Mutation

Cover image for Human Mutation

May 2003

Volume 21, Issue 5

Pages 455–555

  1. Review Article

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening (pages 455–465)

      Paal Skytt Andersen, Cathrine Jespersgaard, Jens Vuust, Michael Christiansen and Lars Allan Larsen

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10169

  2. Databases

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. You have free access to this content
      RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution (pages 466–472)

      John Christodoulou, Andrew Grimm, Tony Maher and Bruce Bennetts

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10194

  3. Research Articles

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype (pages 473–481)

      Jean-Christophe Charniot, Cécile Pascal, Christiane Bouchier, Pascale Sébillon, Jeffrey Salama, Laëtitia Duboscq-Bidot, Mireille Peuchmaurd, Michel Desnos, Jean-Yves Artigou and Michel Komajda

      Article first published online: 27 MAR 2003 | DOI: 10.1002/humu.10170

    2. Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia (pages 482–492)

      Urszula Cymerman, Sonia Vera, Amna Karabegovic, Salma Abdalla and Michelle Letarte

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10203

    3. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency (pages 493–501)

      Laure Thuillier, Hidayeth Rostane, Veronique Droin, France Demaugre, Michèle Brivet, Noman Kadhom, Carina Prip-Buus, Stéphanie Gobin, Jean-Marie Saudubray and Jean-Paul Bonnefont

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10201

    4. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis (pages 502–508)

      Carla A. Teixeira, Janice Espinola, Liang Huo, Johannes Kohlschütter, Dixie-Ann Persaud Sawin, Berge Minassian, Carlos J. P. Bessa, A. Guimarães, Dietrich A. Stephan, Maria Clara Sá Miranda, Marcy E. MacDonald, Maria Gil Ribeiro and Rose-Mary N. Boustany

      Article first published online: 27 MAR 2003 | DOI: 10.1002/humu.10207

    5. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation (pages 509–520)

      Sahar Sibani, Daniel Leclerc, Ilan S. Weisberg, Erin O'Ferrall, David Watkins, Carmen Artigas, David S. Rosenblatt and Rima Rozen

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10193

    6. IVS10–6T>G, an ancient ATM germline mutation linked with breast cancer (pages 521–528)

      Annegien Broeks, Jos H. M. Urbanus, Peter de Knijff, Peter Devilee, Marion Nicke, Karin Klöpper, Thilo Dörk, Arno N. Floore and Laura J. van't Veer

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10204

  4. Methods

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome (pages 529–534)

      Eugenia Borgione, Maurizio Sturnio, Angela Spalletta, Maria Angela Lo Giudice, Lucia Castiglia, Ornella Galesi, Angela Ragusa and Marco Fichera

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10183

    2. Detection of hotspot mutations and polymorphisms using an enhanced PCR-RFLP approach (pages 535–541)

      W.H. Liu, M. Kaur and G.M. Makrigiorgos

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10184

    3. Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer (pages 542–550)

      Jonine L. Bernstein, Sharon Teraoka, Robert W. Haile, Anne-Lise Børresen-Dale, Barry S. Rosenstein, Richard A. Gatti, Anh T. Diep, Laila Jansen, David P. Atencio, Jørgen H. Olsen, Leslie Bernstein, Susan L. Teitelbaum, W. Douglas Thompson and Patrick Concannon

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10206

  5. Erratum

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. Germline TP53 Mutations and Li-Fraumeni Syndrome (page 551)

      J.M. Varley

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.10218

  6. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. You have free access to this content
      A Novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating (page 552)

      Xander H.T. Wehrens, Tom Rossenbacker, Roselie J. Jongbloed, Marc Gewillig, Hein Heidbüchel, Pieter A. Doevendans, Marc A. Vos, Hein J.J. Wellens and Robert S. Kass

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.9136

    2. You have free access to this content
      Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating (pages 552–553)

      Mustafa Tekin, Türker Duman, Gönül Boğoçlu, Armağan İncesulu, Elif Çomak, İnci Ilhan and Nejat Akar

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.9137

    3. You have free access to this content
      Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene (page 553)

      Barbara M. van der Sluijs, Baziel G.M. van Engelen and Lies H. Hoefsloot

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.9138

    4. You have free access to this content
      BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland (pages 553–554)

      Magdalena Perkowska, Izabela BroŻek, Barbara Wysocka, Karin Haraldsson, Therese Sandberg, Ulla Johansson, Gunilla Sellberg, Ake Borg and Janusz Limon

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.9139

  7. Mutation in Brief

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. You have free access to this content
      ATM gene alterations in childhood acute lymphoblastic leukemias (page 554)

      Fabienne Gumy Pause, Pierre Wacker, Philippe Maillet, David Betts and André-Pascal Sappino

      Article first published online: 26 MAR 2003 | DOI: 10.1002/humu.9140

  8. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation in Brief
    9. Mutations in Brief
    1. You have free access to this content
      Molecular variation of human HSP90α and HSP90β genes in Caucasians (pages 554–555)

      Giuseppe Passarino, Gianpiero L. Cavalleri1, Rosalia Stecconi, Claudio Franceschi, Katia Altomare, Serena Dato, Valentina Greco, L. Luca Cavalli Sforza, Peter A. Underhill and Giovanna de Benedictis

      Article first published online: 27 MAR 2003 | DOI: 10.1002/humu.9141

    2. You have free access to this content
      Two common founder mutations of the fanconi anemia group g gene FANCG/XRCC9 in the Japanese population (page 555)

      Hiroshi Yagasaki, Tsukasa Oda, Daiki Adachi, Toshiaki Nakajima, Tatsutoshi Nakahata, Shigetaka Asano and Takayuki Yamashita

      Article first published online: 27 MAR 2003 | DOI: 10.1002/humu.9142

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