Human Mutation

Cover image for Human Mutation

August 2006

Volume 27, Issue 8

Pages 721–832

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
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      Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis (pages 721–730)

      Niels Teich, Jonas Rosendahl, Miklós Tóth, Joachim Mössner and Miklós Sahin-Tóth

      Version of Record online: 21 JUN 2006 | DOI: 10.1002/humu.20343

  2. Rapid Communications

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of the NIPBL Gene (pages 731–735)

      Guntram Borck, Mohamed Zarhrate, Céline Cluzeau, Elodie Bal, Jean-Paul Bonnefont, Arnold Munnich, Valérie Cormier-Daire and Laurence Colleaux

      Version of Record online: 23 JUN 2006 | DOI: 10.1002/humu.20380

    2. Paternal bias in parental origin of HRAS mutations in Costello syndrome (pages 736–741)

      Katia Sol-Church, Deborah L. Stabley, Linda Nicholson, Iris L. Gonzalez and Karen W. Gripp

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.20381

  3. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Characterization of CHEK2 mutations in prostate cancer (pages 742–747)

      Xianglin Wu, Xiangyang Dong, Wanguo Liu and Junjie Chen

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.20321

    2. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment (pages 748–759)

      Sonja C. Stadler, Roman Polanetz, Esther M. Maier, Sylvia C. Heidenreich, Birgit Niederer, Peter U. Mayerhofer, Florian Lagler, Hans-Georg Koch, René Santer, Janice M. Fletcher, Enzo Ranieri, Anibh M. Das, Ute Spiekerkötter, Karl O. Schwab, Simone Pötzsch, Iris Marquardt, Julia B. Hennermann, Ina Knerr, Saadet Mercimek-Mahmutoglu, Nicolai Kohlschmidt, Bernhard Liebl, Ralph Fingerhut, Bernhard Olgemöller, Ania C. Muntau, Adelbert A. Roscher and Wulf Röschinger

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.20349

    3. Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders (pages 760–769)

      Gábor Mátyás, Eliane Arnold, Thierry Carrel, Daniela Baumgartner, Catherine Boileau, Wolfgang Berger and Beat Steinmann

      Version of Record online: 21 JUN 2006 | DOI: 10.1002/humu.20353

    4. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome (pages 770–777)

      Krishna Kumar Singh, Kathrin Rommel, Anjali Mishra, Matthias Karck, Axel Haverich, Jörg Schmidtke and Mine Arslan-Kirchner

      Version of Record online: 23 JUN 2006 | DOI: 10.1002/humu.20354

    5. Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease (pages 778–785)

      Sheila A. Fisher, Jochen Hampe, Clive M. Onnie, Mark J. Daly, Christine Curley, Shaun Purcell, Jeremy Sanderson, John Mansfield, Vito Annese, Alastair Forbes, Cathryn M. Lewis, Stefan Schreiber, John D. Rioux and Christopher G. Mathew

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.20358

    6. The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss (pages 786–795)

      Lut Van Laer, Per-Inge Carlsson, Natacha Ottschytsch, Marie-Louise Bondeson, Annelies Konings, Ann Vandevelde, Nele Dieltjens, Erik Fransen, Dirk Snyders, Erik Borg, Adam Raes and Guy Van Camp

      Version of Record online: 5 JUL 2006 | DOI: 10.1002/humu.20360

    7. Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency (pages 796–802)

      Saskia H.L. Mandey, Marit S. Schneiders, Janet Koster and Hans R. Waterham

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.20361

    8. Phenotypic consequences of branch point substitutions (pages 803–813)

      Jana Královičová, Haixin Lei and Igor Vořechovský

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.20362

  4. Methods

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q (pages 814–821)

      J.A.S. Vorstman, G.R. Jalali, E.F. Rappaport, A.M. Hacker, C. Scott and B.S. Emanuel

      Version of Record online: 21 JUN 2006 | DOI: 10.1002/humu.20330

    2. Semiquantitative multiplex PCR: a useful tool for large rearrangement screening and characterization (pages 822–828)

      Ana B. Garcia-Garcia, Sebastian Blesa, Sergio Martinez-Hervas, M. Luisa Mansego, Veronica Gonzalez-Albert, Juan F. Ascaso, Rafael Carmena, Jose T. Real and Felipe J. Chaves

      Version of Record online: 21 JUN 2006 | DOI: 10.1002/humu.20355

  5. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Spectrum of factor XI (F11) mutations in the UK population – 116 index cases and 140 mutations (page 829)

      Michael Mitchell, Roger Mountford, Rachel Butler, Anwar Alhaq, Letian Dai, Geoffrey Savidge and Paula H.B. Bolton-Maggs

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.9439

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    3. You have free access to this content
      Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease (page 830)

      Esmé Waanders, René H.M. te Morsche, Rob A. de Man, Jan B.M.J. Jansen and Joost P.H. Drenth

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.9441

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      Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia (page 830)

      Lucia Galli, Alfredo Orrico, Stefania Lorenzini, Stefano Censini, Michela Falciani, Antonello Covacci, Vincenzo Tegazzin and Vincenzo Sorrentino

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.9442

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    6. You have free access to this content
      Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE) (page 831)

      Veronika Schulz, Doris Hendig, Maja Henjakovic, Christiane Szliska, Knut Kleesiek and Christian Götting

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.9444

    7. You have free access to this content
    8. You have free access to this content
      Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1 (page 832)

      Ming-Jen Lee, Yi-Ning Su, Huey-Ling You, Shinn-Chong Chiou, Li-Chu Lin, Chih-Chao Yang, Wang-Chao Lee, Wu-Liang Hwu, Fon-Jou Hsieh, Dennis A. Stephenson and Chia-Li Yu

      Version of Record online: 11 JUL 2006 | DOI: 10.1002/humu.9446

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