Human Mutation

Cover image for Human Mutation

August 2004

Volume 24, Issue 2

Pages 107–188

  1. Databases

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. OrthoDisease: A database of human disease orthologs (pages 112–119)

      Kevin P. O'Brien, Isabelle Westerlund and Erik L.L. Sonnhammer

      Article first published online: 18 JUN 2004 | DOI: 10.1002/humu.20068

  2. Research Articles

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles (pages 120–129)

      Bernhard Steiner, Kaspar Truninger, Javier Sanz, André Schaller and Sabina Gallati

      Article first published online: 18 JUN 2004 | DOI: 10.1002/humu.20064

    2. Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism (pages 130–139)

      Jeannette Gootjes, Frank Schmohl, Petra A.W. Mooijer, Conny Dekker, Hanna Mandel, Meral Topcu, Martina Huemer, M. von Schütz, Thorsten Marquardt, Jan A. Smeitink, Hans R. Waterham and Ronald J.A. Wanders

      Article first published online: 18 JUN 2004 | DOI: 10.1002/humu.20062

    3. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome (pages 140–146)

      B. Loeys, J. De Backer, P. Van Acker, K. Wettinck, G. Pals, L. Nuytinck, P. Coucke and A. De Paepe

      Article first published online: 21 JUN 2004 | DOI: 10.1002/humu.20070

    4. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients (pages 147–154)

      Heini Hartikka, Kaija Kuurila, Jarmo Körkkö, Ilkka Kaitila, Reidar Grénman, Seppo Pynnönen, James C. Hyland and Leena Ala-Kokko

      Article first published online: 18 JUN 2004 | DOI: 10.1002/humu.20071

  3. Methods

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. A gel-free SNP genotyping method: bioluminometric assay coupled with modified primer extension reactions (BAMPER) directly from double-stranded PCR products (pages 155–163)

      Guo-Hua Zhou, Hiromi Shirakura, Masao Kamahori, Kazunori Okano, Keiichi Nagai and Hideki Kambara

      Article first published online: 18 JUN 2004 | DOI: 10.1002/humu.20052

    2. Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH Method (pages 164–171)

      Howard Slater, Damien Bruno, Hua Ren, Phung La, Trent Burgess, Louise Hills, Sara Nouri, Jan Schouten and K.H. Andy Choo

      Article first published online: 21 JUN 2004 | DOI: 10.1002/humu.20072

    3. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication (pages 172–177)

      Francesca Ariani, Francesca Mari, Chiara Pescucci, Ilaria Longo, Mirella Bruttini, Ilaria Meloni, Giuseppe Hayek, Raffaele Rocchi, Michele Zappella and Alessandra Renieri

      Article first published online: 18 JUN 2004 | DOI: 10.1002/humu.20065

    4. Bayesian approach to discovering pathogenic SNPs in conserved protein domains (pages 178–184)

      Zhaohui Cai, Eric F. Tsung, Voichita D. Marinescu, Marco F. Ramoni, Alberto Riva and Isaac S. Kohane

      Article first published online: 18 JUN 2004 | DOI: 10.1002/humu.20063

  4. Mutations in Brief

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. You have free access to this content
      USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II (page 185)

      Ronald J.E. Pennings, Heleen te Brinke, Michael D. Weston, Annemarie Claassen, Dana J. Orten, Henriëtte Weekamp, Annelies van Aarem, Patrick L.M. Huygen, August F. Deutman, Lies H. Hoefsloot, Frans P.M. Cremers, Cor W.R.J. Cremers, William J. Kimberling and Hannie Kremer

      Article first published online: 30 JUN 2004 | DOI: 10.1002/humu.9259

    2. You have free access to this content
      Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression (page 185)

      Bronwyn J. Simpson, Tamara A. Height, Grigori Y. Rychkov, Kristen J. Nowak, Nigel G. Laing, Bernard P. Hughes and Allan H. Bretag

      Article first published online: 30 JUN 2004 | DOI: 10.1002/humu.9260

    3. You have free access to this content
      Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients (pages 185–186)

      Byung-Ok Choi, Mi Sun Lee, Sang Hee Shin, Jung Hee Hwang, Kyoung-Gyu Choi, Won-Ki Kim, Il Nam Sunwoo, Nam Keun Kim and Ki Wha Chung

      Article first published online: 30 JUN 2004 | DOI: 10.1002/humu.9261

    4. You have free access to this content
      Sjögren-Larsson syndrome: Seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2 (page 186)

      Gael Carney, Shu Wei and William B. Rizzo

      Article first published online: 30 JUN 2004 | DOI: 10.1002/humu.9262

    5. You have free access to this content
      Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon (pages 186–187)

      M.G. Pittis, V. Ricci, V. I. Guerci, C. Marçais, G. Ciana, A. Dardis, F. Gerin, M. Stroppiano, M.T. Vanier, M. Filocamo and B. Bembi

      Article first published online: 30 JUN 2004 | DOI: 10.1002/humu.9263

    6. You have free access to this content
      Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLR (page 187)

      Pilar Mozas, Sergio Castillo, Diego Tejedor, Gilberto Reyes, Rodrigo Alonso, Miguel Franco, Pedro Saenz, Francisco Fuentes, Fátima Almagro, Pedro Mata and Miguel Pocoví

      Article first published online: 30 JUN 2004 | DOI: 10.1002/humu.9264

    7. You have free access to this content
      Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients (pages 187–188)

      Shunji Tomatsu, Mirella Filocamo, Koji O. Orii, William S. Sly, Monica A. Gutierrez, Tatsuo Nishioka, Olga Peña Serrato, Paola Di Natale, Adriana Maria Montaño, Seiji Yamaguchi, Naomi Kondo, Tadao Orii and Akihiko Noguchi

      Article first published online: 30 JUN 2004 | DOI: 10.1002/humu.9265

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