• Issue
    2003
    103-172
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Research Article
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Clinical and molecular study in congenital muscular dystrophy with partial laminin α2 (LAMA2) deficiency†

Zivana Tezak,  Paola Prandini,  Marco Boscaro,  Alessandra Marin,  Joseph Devaney,  Michael Marino,  Marina Fanin,  Carlo P. Trevisan,  Julie Park,  Weslie Tyson,  R. Finkel,  Carlos Garcia,  Corrado Angelini,  Eric P. Hoffman,  Elena Pegoraro, 
  • Pages: 103-111
  • First Published: 09 January 2003

Methods
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Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes†

Paul Emmerson,  Julie Maynard,  Siân Jones,  Rachel Butler,  Julian R. Sampson,  Jeremy P. Cheadle, 
  • Pages: 112-115
  • First Published: 09 January 2003
Method
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High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method†‡

Paal Skytt Andersen,  Cathrine Jespersgaard,  Jens Vuust,  Michael Christiansen,  Lars Allan Larsen, 
  • Pages: 116-122
  • First Published: 14 January 2003
Method
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Comprehensive scanning of the ATM gene with DOVAM-S†

Carolyn H. Buzin,  Richard A. Gatti,  Vu Q. Nguyen,  Cindy Y. Wen,  Midori Mitui,  Ozden Sanal,  Jie Sheng Chen,  Guity Nozari,  April Mengos,  Xuemin Li,  Frank Fujimura,  Steve S. Sommer, 
  • Pages: 123-131
  • First Published: 09 January 2003
Methods
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Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technology†

Carolina Belli,  Carlos De Brasi,  Irene Larripa, 
  • Pages: 132-137
  • First Published: 14 January 2003

Research Article
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Missense mutations in the DNA-binding region and termination codon in PAX6†

Lian-Yu Chao,  Rajnikant Mishra,  Louise C. Strong,  Grady F. Saunders, 
  • Pages: 138-145
  • First Published: 16 January 2003

Databases
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The Iranian Human Mutation Gene Bank: A data and sample resource for worldwide collaborative genetics research†

Hossein Najmabadi,  Maryam Neishabury,  Farhad Sahebjam,  Kimia Kahrizi,  Yousef Shafaghati,  Nushin Nikzat,  Maryam Jalalvand,  Farahnaz Aminy,  Susan Bany Hashemi,  Babak Moghimi,  Ali Reza Noorian,  Ali Jannati,  Mehrdad Mohammadi,  Khalil Javan, 
  • Pages: 146-150
  • First Published: 14 January 2003

Research Article
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Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis†‡

Jean-Claude Scimeca,  Danielle Quincey,  Hugues Parrinello,  Delphine Romatet,  Josiane Grosgeorge,  Patrick Gaudray,  Nicole Philip,  Alain Fischer,  Georges F. Carle, 
  • Pages: 151-157
  • First Published: 17 January 2003
Research Article
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Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study†

Arleen D. Auerbach,  Jason Greenbaum,  Kanan Pujara,  Sat Dev Batish,  Marco A. Bitencourt,  Indira Kokemohr,  Hildegard Schneider,  Stephan Lobitzc,  Ricardo Pasquini,  Philip F. Giampietro,  Helmut Hanenberg,  Orna Levran, 
  • Pages: 158-168
  • First Published: 17 January 2003

Mutation in Brief
Free Access

Mutations in the CACNA1F and NYX genes in British CSNBX families†‡

Ilaria Zito,  Louise E. Allen,  Reshma J. Patel,  Alfons Meindl,  Keith Bradshaw,  John R. Yates,  Alan C. Bird,  Lynda Erskine,  Michael E. Cheetham,  Andrew R. Webster,  Subathra Poopalasundaram,  Anthony T. Moore,  Dorothy Trump,  Alison J. Hardcastle, 
  • Page: 169
  • First Published: 27 January 2003
Mutation in Brief
Free Access

Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation†‡

Sandra Angèle,  Anthony Laugé,  Marie Fernet,  Norman Moullan,  Pierre Beauvais,  Jérôme Couturier,  Dominique Stoppa-Lyonnet,  Janet Hall, 
  • Pages: 169-170
  • First Published: 27 January 2003
Mutation in Brief
Free Access

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene†‡

C. Proukakis,  M. Auer-Grumbach,  K. Wagner,  P.A. Wilkinson,  E. Reid,  M.A. Patton,  T.T. Warner,  A.H. Crosby, 
  • Page: 170
  • First Published: 27 January 2003
Mutation in Brief
Free Access

Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance†‡

Nitin Udar,  Svetlana Yelchits,  Meenal Chalukya,  Vivek Yellore,  Steve Nusinowitz,  Rosamaria Silva-Garcia,  Tamara Vrabec,  Irene Hussles Maumenee,  Larry Donoso,  Kent W. Small, 
  • Pages: 170-171
  • First Published: 27 January 2003
Mutation in Brief
Free Access

BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer†‡

Andreas Hadjisavvas,  Elpida Charalambous,  Adamos Adamou,  Christina G. Christodoulou,  Kyriacos Kyriacou, 
  • Page: 171
  • First Published: 27 January 2003
Mutation in Brief
Free Access

NF1 gene analysis based on DHPLC†‡

Alessandro De Luc,  Anna Buccino,  Debora Gianni,  Massimo Mangino,  Sandra Giustini,  Antonio Richetta,  Luigina Divona,  Stefano Calvieri,  Rita Mingarelli,  Bruno Dallapiccola, 
  • Pages: 171-172
  • First Published: 27 January 2003
Mutation in Brief
Free Access

Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients†‡

J. Boudeau,  A. Kieloch,  D.R. Alessi,  A. Stella,  G. Guanti,  N. Resta, 
  • Page: 172
  • First Published: 27 January 2003