Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 1

Results: 13

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 71, doi. 10.1038/sj.ejhg.5200354

By:

Mirzayans, Farideh;
Gould, Douglas B;
Héon, E;
Billingsley, Gail D;
Cheung, Jason C;
Mears, Alan J;
Walter, Michael A

Publication type:

Article

A linkage disequilibrium map of the MHC region based on the analysis of 14 loci haplotypes in 50 French families.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 33, doi. 10.1038/sj.ejhg.5200391

By:

Sanchez-Mazas, Alicia;
Djoulah, Sami;
Busson, Marc;
Le Monnier de Gouville, Isabelle;
Poirier, Jean-Claude;
Dehay, Catherine;
Charron, Dominique;
Excoffier, Laurent;
Schneider, Stefan;
Langaney, André;
Dausset, Jean;
Hors, Jacques

Publication type:

Article

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 49, doi. 10.1038/sj.ejhg.5200393

By:

Fidalgo, Paulo;
Almeida, Maria Rosario;
West, Sarah;
Gaspar, Claudia;
Maia, Lara;
Wijnen, Juul;
Albuquerque, Cristina;
Curtis, Ann;
Cravo, Marilia;
Fodde, Riccardo;
Leitao, C Nobre;
Burn, John

Publication type:

Article

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 63, doi. 10.1038/sj.ejhg.5200394

By:

Giglio, Sabrina;
Pirola, Barbara;
Arrigo, Giulia;
Dagrada, Paolo;
Bardoni, Barbara;
Bernardi, Franca;
Russo, Giovanni;
Argentiero, Luisa;
Forabosco, Antonino;
Carrozzo, Romeo;
Zuffardi, Orsetta

Publication type:

Article

APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 42, doi. 10.1038/sj.ejhg.5200397

By:

Cao, Xia;
Weng Eu, Kong;
Seow-Choen, Francis;
Zao, Yi;
Yean Cheah, Peh

Publication type:

Article

Refined mapping of the human serotonin transporter (SLC6A4) gene within 17q11 adjacent to the CPD and NF1 genes.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 75, doi. 10.1038/sj.ejhg.5200400

By:

Shen, Sanbing;
Battersby, Sharon;
Weaver, Molly;
Clark, Elma;
Stephens, Karen;
Harmar, Anthony J

Publication type:

Article

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 54, doi. 10.1038/sj.ejhg.5200402

By:

Schiller, Simone;
Spranger, Stephanie;
Schechinger, Birgit;
Fukami, Maki;
Merker, Sabine;
Drop, Stenvert LS;
Tröger, Jochen;
Knoblauch, Hans;
Kunze, Jürgen;
Seidel, Jörg;
Rappold, Gudrun A

Publication type:

Article

Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 4, doi. 10.1038/sj.ejhg.5200403

By:

Stevanin, Giovanni;
Dürr, Alexandra;
Brice, Alexis

Publication type:

Article

High carrier frequency of the 35delG deafness mutation in European populations.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 19

By:

Gasparini, Paolo;
Rabionet, Raquel;
Barbujani, Guido;
Melchionda, Salvatore;
Petersen, Michael;
Brøndum-Nielsen, Karen;
Metspalu, Andres;
Oitmaa, Eneli;
Pisano, Marina;
Fortina, Paolo;
Zelante, Leopoldo;
Estivill, Xavier

Publication type:

Article

Letter.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 3, doi. 10.1038/sj.ejhg.5200408

By:

Harris, Rodney;
Oliveira, Joao Paulo;
Santos, Heloisa G

Publication type:

Article

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 24, doi. 10.1038/sj.ejhg.5200409

By:

Dobson-Stone, Carol;
Cox, Roger D;
Lonie, Lorne;
Southam, Lorraine;
Fraser, Maria;
Wise, Carol;
Bernier, François;
Hodgson, Shirley;
Porter, Daniel E;
Simpson, A Hamish RW;
Monaco, Anthony P

Publication type:

Article

2000: promises and plans.

Published in:

2000

By:

van Ommen, Gert-Jan B

Publication type:

Editorial

Publisher's announcement.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 1, p. 2, doi. 10.1038/sj.ejhg.5200458

By:

Marks, Jayne

Publication type:

Article