• Issue
    2005
    63-165
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Databases
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LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach†

Ivo F.A.C. Fokkema,  Johan T. den Dunnen,  Peter E.M. Taschner, 
  • Pages: 63-68
  • First Published: 23 June 2005
Databases
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dbQSNP: A database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods†

Tomoko Tahira,  Shingo Baba,  Koichiro Higasa,  Yoji Kukita,  Yutaka Suzuki,  Sumio Sugano,  Kenshi Hayashi, 
  • Pages: 69-77
  • First Published: 23 June 2005

Rapid Communication
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Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney†

R. Wieser,  B. Fritz,  R. Ullmann,  I. Müller,  M. Galhuber,  C.T. Storlazzi,  A. Ramaswamy,  H. Christiansen,  N. Shimizu,  H. Rehder, 
  • Pages: 78-83
  • First Published: 14 June 2005

Research Article
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Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A†

Lisbeth Birk Møller,  Jens Thostrup Bukrinsky,  Anne Mølgaard,  Marianne Paulsen,  Connie Lund,  Zeynep Tümer,  Sine Larsen,  Nina Horn, 
  • Pages: 84-93
  • First Published: 24 June 2005
Research Article
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Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 Mutation†

Silvia Capponcelli,  Elena Pedrini,  Maria Antonietta Cerone,  Valeria Corti,  Silvia Fontanesi,  Massimo Alessio,  Angela Bachi,  Silvia Soddu,  Domenico Ribatti,  Piero Picci,  Lee J. Helman,  Giorgio Cantelli-Forti,  Luca Sangiorgi, 
  • Pages: 94-103
  • First Published: 23 June 2005
Research Article
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Complexity of the genotype–phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes†

Minghui Qin,  Hideyuki Hayashi,  Kenji Oshima,  Tomoko Tahira,  Kenshi Hayashi,  Hiroyuki Kondo, 
  • Pages: 104-112
  • First Published: 24 June 2005
Research Article
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Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)†

Ilse Wieland,  William Reardon,  Sibylle Jakubiczka,  Brunella Franco,  Wolfram Kress,  Catherine Vincent-Delorme,  Patrick Thierry,  Matt Edwards,  Rainer König,  Cristina Rusu,  Susann Schweiger,  Elizabeth Thompson,  Sigrid Tinschert,  Fiona Stewart,  Peter Wieacker, 
  • Pages: 113-118
  • First Published: 15 June 2005
Research Article
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BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension†

Marja Sankelo,  Julia A Flanagan,  Rajiv Machado,  Rachel Harrison,  Nung Rudarakanchana,  Nicholas Morrell,  Morag Dixon,  Maija Halme,  Hannu Puolijoki,  Juha Kere,  Outi Elomaa,  Markku Kupari,  Anne Räisänen-Sokolowski,  Richard C. Trembath,  Tarja Laitinen, 
  • Pages: 119-124
  • First Published: 17 June 2005
Research Article
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Complex gene rearrangements caused by serial replication slippage†

Jian-Min Chen,  Nadia Chuzhanova,  Peter D. Stenson,  Claude Férec,  David N. Cooper, 
  • Pages: 125-134
  • First Published: 23 June 2005
Research Article
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Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort†

Olga Roche,  Alvaro Blanch,  Christiane Duponchel,  Gumersindo Fontán,  Mario Tosi,  Margarita López-Trascasa, 
  • Pages: 135-144
  • First Published: 21 June 2005

Methods
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Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R†

Kenton K. Murthy,  Vafa S. Mahboubi,  Alicia Santiago,  Mandy T. Barragan,  Ralph Knöll,  Heinz-Peter Schultheiss,  Daniel T. O'Connor,  Nicholas J. Schork,  Brinda K. Rana, 
  • Pages: 145-152
  • First Published: 14 June 2005
Methods
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A rapid microarray based whole genome analysis for detection of uniparental disomy†

Özge Altug-Teber,  Andreas Dufke,  Sven Poths,  Ulrike Angelika Mau-Holzmann,  Murat Bastepe,  Laurence Colleaux,  Valérie Cormier-Daire,  Thomas Eggermann,  Gabriele Gillessen-Kaesbach,  Michael Bonin,  Olaf Riess, 
  • Pages: 153-159
  • First Published: 20 June 2005

Meeting Report
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The 2004 Human Genome Variation Society scientific meeting†

William S. Oetting,  Tania Tabone, 
  • Pages: 160-163
  • First Published: 21 June 2005

Mutation in Brief
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3-Methylcrotonyl-CoA carboxylase deficiency: Mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening†‡

Maria Fernanda Dantas,  Terttu Suormala,  Ann Randolph,  David Coelho,  Brian Fowler,  David Valle,  Matthias R. Baumgartner, 
  • Page: 164
  • First Published: 11 July 2005
Mutation in Brief
Free Access

Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease†‡

Andrea Dardis,  Stefania Zampieri,  Mirella Filocamo,  Alberto Burlina,  Bruno Bembi,  Maria Gabriela Pittis, 
  • Page: 164
  • First Published: 11 July 2005
Mutation in Brief
Free Access

Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software†‡

James Colley,  Siân Jones,  Anthony R. Dallosso,  Julie H. Maynard,  Vikki Humphreys,  Sunil Dolwani,  Julian R. Sampson,  Jeremy P. Cheadle, 
  • Page: 165
  • First Published: 11 July 2005
Mutation in Brief
Free Access

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies†‡

Karine Nguyen,  Guillaume Bassez,  Rafaëlle Bernard,  Martin Krahn,  Véronique Labelle,  Dominique Figarella-Branger,  Jean Pouget,  El Hadi Hammouda,  Christophe Béroud,  Andoni Urtizberea,  Bruno Eymard,  France Leturcq,  Nicolas Lévy, 
  • Page: 165
  • First Published: 11 July 2005