Human Mutation

Copyright © 2013 Wiley Periodicals Inc.

Cover image for Human Mutation

September 2004

Volume 24, Issue 3

Pages 189–275

  1. Databases

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. The human FOXL2 mutation database (pages 189–193)

      Diane Beysen, Jo Vandesompele, Ludwine Messiaen, Anne De Paepe and Elfride De Baere

      Article first published online: 26 JUL 2004 | DOI: 10.1002/humu.20079

    2. Infevers: An evolving mutation database for auto-inflammatory syndromes (pages 194–198)

      Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal Hoffman, Catherine Dode, Nitza Shoham, Ebun Aganna, Jean-Pierre Hugot, Carol Wise, Hans Waterham, Denis Pugnere, Jacques Demaille and Cyril Sarrauste de Menthiere

      Article first published online: 27 JUL 2004 | DOI: 10.1002/humu.20080

  2. Research Articles

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy (pages 199–207)

      G. Yogalingam, X.-H. Guo, V.J. Muller, D.A. Brooks, P.R. Clements, E.D. Kakkis and J.J. Hopwood

      Article first published online: 26 JUL 2004 | DOI: 10.1002/humu.20081

    2. Possible gene dosage effect of glutathione-S-transferases on atopic asthma: Using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers (pages 208–214)

      Charlotte Brasch-Andersen, Lene Christiansen, Qihua Tan, Annette Haagerup, Jørgen Vestbo and Torben A. Kruse

      Article first published online: 26 JUL 2004 | DOI: 10.1002/humu.20074

    3. Genotype–phenotype correlation in von Hippel-Lindau families with renal lesions (pages 215–224)

      Catherine Gallou, Dominique Chauveau, Stéphane Richard, Dominique Joly, Sophie Giraud, Sylviane Olschwang, Natacha Martin, Céline Saquet, Yves Chrétien, Arnaud Méjean, Jean-Michel Correas, Gérard Benoît, Pierre Colombeau, Jean-Pierre Grünfeld, Claudine Junien and Christophe Béroud

      Article first published online: 26 JUL 2004 | DOI: 10.1002/humu.20082

    4. TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA (pages 225–235)

      Lucia Susani, Alessandra Pangrazio, Cristina Sobacchi, Anna Taranta, Geert Mortier, Ravi Savarirayan, Anna Villa, Paul Orchard, Paolo Vezzoni, Alberto Albertini, Annalisa Frattini and Franco Pagani

      Article first published online: 26 JUL 2004 | DOI: 10.1002/humu.20076

    5. Patterns of CAG repeat interruptions in SCA1 and SCA2 genes in relation to repeat instability (pages 236–247)

      Krzysztof Sobczak and Wlodzimierz J. Krzyzosiak

      Article first published online: 26 JUL 2004 | DOI: 10.1002/humu.20075

    6. Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-Chromosome and mitochondrial DNA sequence Variation (pages 248–260)

      Peidong Shen, Tal Lavi, Toomas Kivisild, Vivian Chou, Deniz Sengun, Dov Gefel, Issac Shpirer, Eilon Woolf, Jossi Hillel, Marcus W. Feldman and Peter J. Oefner

      Article first published online: 28 JUL 2004 | DOI: 10.1002/humu.20077

  3. Methods

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization (pages 261–271)

      Shannon Cowie, Snezana Drmanac, Donald Swanson, Kathleen Delgrosso, Steve Huang, Desirée du Sart, Radoje Drmanac, Saul Surrey and Paolo Fortina

      Article first published online: 27 JUL 2004 | DOI: 10.1002/humu.20078

  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
      Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation (page 272)

      Gul N. Shah, Giuseppe Bonapace, Peiyi Y. Hu, Pietro Strisciuglio and William S. Sly

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9266

    2. You have free access to this content
      RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1 (page 272)

      Andrew Sharp, Gabriella Pichert, Anneke Lucassen and Diana Eccles

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9267

    3. You have free access to this content
      Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene (page 273)

      Luísa Azevedo, Consuelo Climent, Laura Vilarinho, F. Calafell and António Amorim

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9268

    4. You have free access to this content
      IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1 (page 273)

      Yao-Hua Zhang, Bing-Ling Huang, Kathy K. Niakan, Linda L. McCabe, Edward R.B. McCabe and Katrina M. Dipple

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9269

    5. You have free access to this content
      Splice-site genetic polymorphism of the human kallikrein 12 (KLK12) gene correlates with no substantial expression of KLK12 protein having serine protease activity (pages 273–274)

      Kazuya Shinmura, Hong Tao, Hidetaka Yamada, Hideki Kataoka, Ravshanov Sanjar, Jiandong Wang, Kimio Yoshimura and Haruhiko Sugimura

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9270

    6. You have free access to this content
      Erratum: Novel MC1R variants in ligurian melanoma patients and controls (page 274)

      Lorenza Pastorino, Roberto Cusano, William Bruno, Francesca Lantieri, Paola Origone, Monica Barile, Sara Gliori, Graeme A. Shepherd, Richard A. Sturm and Giovanna Bianchi-Scarra

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9271

    7. You have free access to this content
      Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11) (pages 274–275)

      Hanno Bolz, Steffen-Sebastian Bolz, Götz Schade, Christian Kothe, Gerrit Mohrmann, Markus Hess and Andreas Gal

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9272

    8. You have free access to this content
      Erratum: BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension (page 275)

      Hiroko Morisaki, Norifumi Nakanishi, Shingo Kyotani, Atsushi Takashima, Hitonobu Tomoike and Takayuki Morisaki

      Article first published online: 29 JUL 2004 | DOI: 10.1002/humu.9273

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