• Issue
    2005
    1-61
Previous Issue|Next Issue
Export Citation(s)Download PDF(s)

Mutation Update
Free Access

Sjögren-Larsson syndrome: Diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2)†

William B. Rizzo,  Gael Carney, 
  • Pages: 1-10
  • First Published: 01 June 2005

Databases
Full Access

InSNP: A tool for automated detection and visualization of SNPs and InDels†

Carl Manaster,  Weiyue Zheng,  Markus Teuber,  Stefan Wächter,  Frank Döring,  Stefan Schreiber,  Jochen Hampe, 
  • Pages: 11-19
  • First Published: 01 June 2005

Research Article
Full Access

Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations†

Karim Chikh,  Céline Rodriguez,  Sébastien Vey,  Marie T. Vanier,  Gilles Millat, 
  • Pages: 20-28
  • First Published: 03 June 2005
Research Article
Full Access

TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels†

Simon M. Laws,  Robert Perneczky,  Stefan Wagenpfeil,  Ulrich Müller,  Hans Förstl,  Ralph N. Martins,  Alexander Kurz,  Matthias Riemenschneider, 
  • Pages: 29-35
  • First Published: 13 May 2005
Research Article
Full Access

The phenotypic spectrum of COL2A1 mutations†

Gen Nishimura,  Nobuhiko Haga,  Hiroshi Kitoh,  Yoko Tanaka,  Toru Sonoda,  Miho Kitamura,  Shuya Shirahama,  Taichi Itoh,  Eiji Nakashima,  Hirofumi Ohashi,  Shiro Ikegawa, 
  • Pages: 36-43
  • First Published: 13 May 2005
Research Article
Full Access

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis†

Katja U. Schneider,  Antonio Marchini,  Nitin Sabherwal,  Ralph Röth,  Beate Niesler,  Tiina Marttila,  Rüdiger J. Blaschke,  Margaret Lawson,  Miroslav Dumic,  Gudrun Rappold, 
  • Pages: 44-52
  • First Published: 01 June 2005

Methods
Full Access

Determination of variants in the 3′-region of the Tyrosinase gene requires locus specific amplification†

Moumita Chaki,  Arijit Mukhopadhyay,  Kunal Ray, 
  • Pages: 53-58
  • First Published: 13 May 2005

Mutation in Brief
Free Access

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)†‡§

John S. Waye,  Patrycja A. Krakowiak,  Christopher A. Wassif,  Allison L. Sterner,  Barry Eng,  Lisa M. Nakamura,  Małgorzata J.M. Nowaczyk,  Forbes D. Porter, 
  • Page: 59
  • First Published: 13 June 2005
Mutation in Brief
Free Access

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis†‡

Stefan J. White,  Shirley Uitte de Willige,  Dennis Verbove,  Luisa Politano,  Ieke Ginjaar,  Martijn H. Breuning,  Johan T. den Dunnen, 
  • Page: 59
  • First Published: 13 June 2005
Mutation in Brief
Free Access

Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression†‡

Nelson L.S. Tang,  Weimin Zhang,  G.A. Grabowski,  K.F. To,  Francis Y.M. Choy,  S.L. Ma,  H.P. Shi, 
  • Pages: 59-60
  • First Published: 13 June 2005
Mutation in Brief
Free Access

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome†‡

Mato Nagel,  Sylvia Nagorka,  Oliver Gross, 
  • Page: 60
  • First Published: 13 June 2005
Mutation in Brief
Free Access

Mutation analysis of the GJB2 (Connexin 26) gene in Egypt†‡

Rikkert L. Snoeckx,  Dalia M. Hassan,  Nadia M. Kamal,  Kris Van Den Bogaert,  Guy Van Camp, 
  • Pages: 60-61
  • First Published: 13 June 2005
Mutation in Brief
Free Access

Erratum: Sodium channel gene (SCN5A) mutations in 44 index patients with brugada syndrome: Different incidences in familial and sporadic disease†‡

Eric Schulze-Bahr,  Lars Eckardt,  Günter Breithardt,  Karlheinz Seidl,  Thomas Wichter,  Christian Wolpert,  Martin Borggrefe,  Wilhelm Haverkamp, 
  • Page: 61
  • First Published: 13 June 2005