Human Mutation

Cover image for Human Mutation

October 2002

Volume 20, Issue 4

Pages 239–324

  1. Databases

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. rSNP_Guide: An integrated database-tools system for studying SNPs and site-directed mutations in transcription factor binding sites (pages 239–248)

      Julia V. Ponomarenko, Galina V. Orlova, Tatyana I. Merkulova, Elena V. Gorshkova, Oleg N. Fokin, Gennady V. Vasiliev, Anatoly S. Frolov and Mikhail P. Ponomarenko

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10116

  2. Rapid Communication

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening? (pages 249–252)

      Birgitta Winnepenninckx, Vanessa Errijgers, France Hayez-Delatte, Edwin Reyniers and R. Frank Kooy

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10130

  3. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Novel mutations and SNPs identified in CCR2 using a new comprehensive denaturing gradient gel electrophoresis assay (pages 253–259)

      Desiree C. Petersen, Annette Laten, Michele D. Zeier, Ashraf Grimwood, Estrelita Janse van Rensburg and Vanessa M. Hayes

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10111

    2. Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B (pages 260–266)

      G. Loudianos, M. Lovicu, V. Dessi, M. Tzetis, E. Kanavakis, L. Zancan, L. Zelante, C. Galvèz-Galvèz and A. Cao

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10121

    3. Characterization of a novel CYP2A7/CYP2A6 hybrid allele (CYP2A6*12) that causes reduced CYP2A6 activity (pages 275–283)

      Mikael Oscarson, Roman A. McLellan, Vendela Asp, MariCarmen Ledesma, Maria Luisa Bernal Ruiz, Blanca Sinues, Arja Rautio and Magnus Ingelman-Sundberg

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10126

    4. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype (pages 284–297)

      Nancy Braverman, Li Chen, Paul Lin, Cassandra Obie, Gary Steel, Pamela Douglas, Pranesh K. Chakraborty, Joe T.R. Clarke, Avihu Boneh, Ann Moser, Hugo Moser and David Valle

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10124

    5. PTPN11 Mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13 (pages 298–304)

      M. Maheshwari, J. Belmont, S. Fernbach, T. Ho, L. Molinari, I. Yakub, F. Yu, A. Combes, J. Towbin, W. J. Craigen and R. Gibbs

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10129

  4. Methods

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss (pages 312–320)

      Alessandro Ferraris, Eric Rappaport, Rosa Santacroce, Eleanor Pollak, Ian Krantz, Stephen Toth, Frida Lysholm, Maurizio Margaglione, Gabriella Restagno, Bruno Dallapiccola, Saul Surrey and Paolo Fortina

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.10127

  5. Mutations in Brief

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome (page 321)

      Marie-Louise Syrén, Silvana Tedeschi, Laila Cesareo, Rosa Bellantuono, Giacomo Colussi, Mirella Procaccio, Anna Alì, Raffaele Domenici, Fabio Malberti, Monica Sprocati, Michele Sacco, Nunzia Miglietti, Alberto Edefonti, Fabio Sereni, Giorgio Casari, Domenico A. Coviello and Alberto Bettinelli

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.9064

    2. You have free access to this content
    3. You have free access to this content
      Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene (page 322)

      Michèle M. Sale, Jamie E. Craig, Jacinta C. Charlesworth, Liesel M. FitzGerald, Isabel M. Hanson, Joanne L. Dickinson, Sarah J. Matthews, Veronica van Heyningen, John H. Fingert and David A. Mackey

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.9066

    4. You have free access to this content
      Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin (pages 322–323)

      Sylvain Hanein, Isabelle Perrault, Päivi Olsen, Tuija Lopponen, Marja Hietala, Sylvie Gerber, Marc Jeanpierre, Fabienne Barbet, Dominique Ducroq, Sélim Hakiki, Arnold Munnich, Jean-Michel Rozet and Josseline Kaplan

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.9067

    5. You have free access to this content
      One-Step site-directed mutagenesis of ATM cDNA in large (20kb) plasmid constructs (page 323)

      Shaun P. Scott, Alison Teh, Cheng Peng and Martin F. Lavin

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.9068

    6. You have free access to this content
      MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome (pages 323–324)

      Yuval Yaron, Bruria Ben Zeev, Ruth Shomrat, Dani Bercovich, Tova Naiman and Avi Orr-Urtreger

      Version of Record online: 24 SEP 2002 | DOI: 10.1002/humu.9069

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