• Issue
    2007
    743-830
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Review Article
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Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry†‡

James German,  Maureen M. Sanz,  Susan Ciocci,  Tian Z. Ye,  Nathan A. Ellis, 
  • Pages: 743-753
  • First Published: 03 April 2007

Mutation Update
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Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene†‡

Ljubica Caldovic,  Hiroki Morizono,  Mendel Tuchman, 
  • Pages: 754-759
  • First Published: 09 April 2007

Database
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Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature †

Dongqing Gu,  William A. Scaringe,  Kai Li,  Juan-Sebastian Saldivar,  Kathleen A. Hill,  Zhenbin Chen,  Kelly D. Gonzalez,  Steve S. Sommer, 
  • Pages: 760-770
  • First Published: 11 April 2007

Research Article
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Night blindness–associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking†

Christina Zeitz,  Ursula Forster,  John Neidhardt,  Silke Feil,  Stefan Kälin,  Dorothee Leifert,  Peter J. Flor,  Wolfgang Berger, 
  • Pages: 771-780
  • First Published: 02 April 2007
Research Article
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Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients †

David Baux,  Lise Larrieu,  Catherine Blanchet,  Christian Hamel,  Safouane Ben Salah,  Anne Vielle,  Brigitte Gilbert-Dussardier,  Muriel Holder,  Patrick Calvas,  Nicole Philip,  Patrick Edery,  Dominique Bonneau,  Mireille Claustres,  Sue Malcolm,  Anne-Françoise Roux, 
  • Pages: 781-789
  • First Published: 02 April 2007
Research Article
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Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease†

L. de Pontual,  A. Pelet,  M. Clement-Ziza,  D. Trochet,  S.E. Antonarakis,  T. Attie-Bitach,  P.L. Beales,  J.-L. Blouin,  F. Dastot-Le Moal,  H. Dollfus,  M. Goossens,  N. Katsanis,  R. Touraine,  J. Feingold,  A. Munnich,  S. Lyonnet,  J. Amiel, 
  • Pages: 790-796
  • First Published: 30 March 2007
Research Article
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Identification and characterization of a novel RPGR isoform in human retina†

John Neidhardt,  Esther Glaus,  Daniel Barthelmes,  Christina Zeitz,  Johannes Fleischhauer,  Wolfgang Berger, 
  • Pages: 797-807
  • First Published: 02 April 2007
Research Article
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Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis†

Ulf-Peter Guenther,  Raymonda Varon,  Maria Schlicke,  Véronique Dutrannoy,  Alexander Volk,  Christoph Hübner,  Katja von Au,  Markus Schuelke, 
  • Pages: 808-815
  • First Published: 12 April 2007

Methods
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Effective detection of corrected dystrophin loci in mdx mouse myogenic precursors†

Marian Todaro,  Anita Quigley,  Magdalena Kita,  Judy Chin,  Kym Lowes,  Andrew J. Kornberg,  Mark J. Cook,  Robert Kapsa, 
  • Pages: 816-823
  • First Published: 29 March 2007
Methods
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Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populations†‡

Gila Idelman,  James G. Taylor,  Ron Tongbai,  Renee A. Chen,  Cynthia M. Haggerty,  Sven Bilke,  Stephen J. Chanock,  Kevin Gardner, 
  • Pages: 824-829
  • First Published: 12 April 2007

Mutation in Brief
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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay†‡

Wiktor Borozdin,  John M. Graham Jr.,  Detlef Böhm,  Michael J. Bamshad,  Stefanie Spranger,  Leah Burke,  Michael Leipoldt,  Jürgen Kohlhase, 
  • Page: 830
  • First Published: 10 July 2007
Mutation in Brief
Free Access

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response†‡

Ines Dierick,  Joy Irobi,  Sophie Janssens,  Jessie Theuns,  Robin Lemmens,  An Jacobs,  Ellen Corsmit,  Nicole Hersmus,  Ludo Van Den Bosch,  Wim Robberecht,  Peter De Jonghe,  Christine Van Broeckhoven,  Vincent Timmerman, 
  • Page: 830
  • First Published: 10 July 2007