Volume 22; Issue 3

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Human Mutation
Volume 22; Issue 3

Human Mutation

Volume 22; Issue 3

1

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

Gwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, Leena Ala-Kokko, Patrick Booms, Maureen Boxer, Anne Child, Paolo Comeglio, Anne De Paepe, James C. Hyland, Katerine Holman, Ilkka Kaitila, Bar

Journal:

Year:

2003

Language:

english

File:

PDF, 192 KB

english, 2003

2

Genotyping African haplotypes in ATM using a co-spotted single-base extension assay

Maneesh Jain, Yvonne R. Thorstenson, David M. Faulkner, Nader Pourmand, Ted Jones, Melinda Au, Peter J. Oefner, Kevin P. White, Ronald W. Davis

Journal:

Year:

2003

Language:

english

File:

PDF, 308 KB

english, 2003

3

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients

Nitin Udar, Vivek Yellore, Meenal Chalukya, Svetlana Yelchits, Rosamaria Silva-Garcia, Kent Small

Journal:

Year:

2003

Language:

english

File:

PDF, 195 KB

english, 2003

4

Trimethylaminuria and a human FMO3 mutation database

Diana Hernandez, Sarah Addou, David Lee, Christine Orengo, Elizabeth A. Shephard, Ian R. Phillips

Journal:

Year:

2003

Language:

english

File:

PDF, 133 KB

english, 2003

5

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

Nadia Chuzhanova, Shaun S. Abeysinghe, Michael Krawczak, David N. Cooper

Journal:

Year:

2003

Language:

english

File:

PDF, 168 KB

english, 2003

6

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

Shaun S. Abeysinghe, Nadia Chuzhanova, Michael Krawczak, Edward V. Ball, David N. Cooper

Journal:

Year:

2003

Language:

english

File:

PDF, 212 KB

english, 2003

7

Negligible validation rate for public domain stop-codon SNPs

Sarah L. Sawyer, Linda C. Berglind, Anthony J. Brookes

Journal:

Year:

2003

Language:

english

File:

PDF, 81 KB

english, 2003

8

PTEN: One Gene, Many Syndromes

Journal:

Year:

2003

Language:

english

File:

PDF, 217 KB

english, 2003

9

Standardizing mutation nomenclature: Why bother?

Johan T. den Dunnen, Mark H. Paalman

Journal:

Year:

2003

Language:

english

File:

PDF, 67 KB

english, 2003

10

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 Lobitz, Ricardo Pasquini, Philip F. Giampietro, Helmut Hanenberg,

Journal:

Year:

2003

Language:

english

File:

PDF, 54 KB

english, 2003

11

ATM gene alterations in childhood acute lymphoblastic leukemias

Fabienne Gumy Pause, Pierre Wacker, Philippe Maillet, David Betts, André-Pascal Sappino

Journal:

Year:

2003

Language:

english

File:

PDF, 48 KB

english, 2003

12

Association analysis of novel TBX21 variants with asthma phenotypes

Hun Taek Chung, Lyoung Hyo Kim, Byung Lae Park, June Hyuk Lee, Hae-Sim Park, Byoung Whui Choi, Soo-Jong Hong, Soo Cheon Chae, Jeong Joong Kim, Choon-Sik Park, Hyoung Doo Shin

Journal:

Year:

2003

Language:

english

File:

PDF, 55 KB

english, 2003

13

Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density

Byung Lae Park, In Kwon Han, Ho Sa Lee, Lyoung Hyo Kim, Sa Jin Kim, Hyoung Doo Shin

Journal:

Year:

2003

Language:

english

File:

PDF, 48 KB

english, 2003

14

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

Hidewaki Nakagawa, Heather Hampel, Albert de la Chapelle

Journal:

Year:

2003

Language:

english

File:

PDF, 201 KB

english, 2003

15

Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female

Adriana Rodríguez-Marí, M. José Coll, Amparo Chabás

Journal:

Year:

2003

Language:

english

File:

PDF, 40 KB

english, 2003

16

CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs

Genoveva Keyeux, Clemencia Rodas, Thierry Bienvenu, Pilar Garavito, Dominique Vidaud, Dora Sanchez, Jean-Claude Kaplan, Gustavo Aristizábal

Journal:

Year:

2003

Language:

english

File:

PDF, 2.98 MB

english, 2003

17

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany

Peter Meyer, Theda Voigtlaender, Claus R. Bartram, Ruediger Klaes

Journal:

Year:

2003

Language:

english

File:

PDF, 76 KB

english, 2003

18

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect

Carina M. Rivolta, Sebastián A. Esperante, Laura Gruñeiro-Papendieck, Ana Chiesa, Christian M. Moya, Sabina Domené, Viviana Varela, Héctor M. Targovnik

Journal:

Year:

2003

Language:

english

File:

PDF, 47 KB

english, 2003

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