Works matching IS 10184813 AND DT 2002 AND VI 10 AND IP 12

Results: 19

The importance of plasma apolipoprotein E concentration in addition to its common polymorphism on inter-individual variation in lipid levels: results from Apo Europe.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 841, doi. 10.1038/sj.ejhg.5200864

By:

Haddy, Nadia;
Bacquer, Dirk De;
Chemaly, Marianne Mansour;
Maurice, Mickaël;
Ehnholm, Christian;
Evans, Alun;
Sans, Susanna;
Martins, Maria do Carmo;
Backer, Guy De;
Siest, Gérard;
Visvikis, Sophia

Publication type:

Article

Is DFNA5 a susceptibility gene for age-related hearing impairment?

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 883, doi. 10.1038/sj.ejhg.5200878

By:

Van Laer, Lut;
DeStefano, Anita L;
Myers, Richard H;
Flothmann, Kris;
Thys, Sofie;
Fransen, Erik;
Gates, George A;
Van Camp, Guy;
Baldwin, Clinton T

Publication type:

Article

Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 819, doi. 10.1038/sj.ejhg.5200883

By:

van Rhijn, Bas W G;
van Tilborg, Angela A G;
Lurkin, Irene;
Bonaventure, Jacky;
de Vries, Annie;
Thiery, Jean-Paul;
van der Kwast, Theodorus H;
Zwarthoff, Ellen C;
Radvanyi, Francois

Publication type:

Article

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 865, doi. 10.1038/sj.ejhg.5200884

By:

Downey, Louise M;
Keen, T Jeffrey;
Jalili, Ismail K;
McHale, John;
Aldred, Michael J;
Robertson, Steven P;
Mighell, Alan;
Fayle, Steven;
Wissinger, Bernd;
Inglehearn, Chris F

Publication type:

Article

BRCA2 founder mutation in Slovenian breast cancer families.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 879, doi. 10.1038/sj.ejhg.5200886

By:

Krajc, Mateja;
De Grève, Jacques;
Goelen, Guido;
Teugels, Erik

Publication type:

Article

Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG).

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 813, doi. 10.1038/sj.ejhg.5200887

By:

Ferrante, Paola;
Messali, Silvia;
Meroni, Germana;
Ballabio, Andrea

Publication type:

Article

Clinical variability in calpainopathy: What makes the difference?

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 825, doi. 10.1038/sj.ejhg.5200888

By:

de Paula, Flávia;
Vainzof, Mariz;
Passos-Bueno, Maria Rita;
de Cássia M Pavanello, Rita;
Matioli, Sergio Russo;
V B Anderson, Louise;
Nigro, Vincenzo;
Zatz, Mayana

Publication type:

Article

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 790, doi. 10.1038/sj.ejhg.5200889

By:

Starke, Heike;
Seidel, Jörg;
Henn, Wolfram;
Reichardt, Sylvia;
Volleth, Marianne;
Stumm, Markus;
Behrend, Christine;
Sandig, Klaus R;
Kelbova, Christine;
Senger, Gabriele;
Albrecht, Beate;
Hansmann, Ingo;
Heller, Anita;
Claussen, Uwe;
Liehr, Thomas

Publication type:

Article

Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 807, doi. 10.1038/sj.ejhg.5200890

By:

Male, Alison;
Davies, Angela;
Bergbaum, Anne;
Keeling, Jean;
FitzPatrick, David;
Ogilvie, Caroline Mackie;
Berg, Jonathan

Publication type:

Article

New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 833, doi. 10.1038/sj.ejhg.5200891

By:

Ruault, Myriam;
van der Bruggen, Pierre;
Brun, Marie-Elisabeth;
Boyle, Shelagh;
Roizès, Gérard;
Sario, Albertina De

Publication type:

Article

Family-based association tests for quantitative traits using pooled DNA.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 870, doi. 10.1038/sj.ejhg.5200893

By:

Bader, Joel S;
Sham, Pak

Publication type:

Article

Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 851, doi. 10.1038/sj.ejhg.5200894

By:

Chapiro, Elise;
Feldmann, Delphine;
Denoyelle, Françoise;
Sternberg, Damien;
Jardel, Claude;
Eliot, Marie-Madeleine;
Bouccara, Didier;
Weil, Dominique;
Garabédian, Eréa-Noel;
Couderc, Rémy;
Petit, Christine;
Marlin, Sandrine

Publication type:

Article

Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 801, doi. 10.1038/sj.ejhg.5200895

By:

Ogilvie, Caroline Mackie;
Scriven, Paul N

Publication type:

Article

Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 857, doi. 10.1038/sj.ejhg.5200896

By:

Chioza, Barry;
Osei-Lah, Abena;
Nashef, Lina;
Suarez-Merino, Blanca;
Wilkie, Hazel;
Sham, Pak;
Knight, Jo;
Asherson, Philip;
Makoff, Andrew J

Publication type:

Article

The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 786, doi. 10.1038/sj.ejhg.5200900

By:

Tunca, Mehmet;
Akar, Servet;
Hawkins, Philip N;
Booth, Susanne E;
Şengül, Bülent;
Yavuzşen, Tugba Ulaş;
Öktem, Selda;
Soytürk, Müjde;
Akkoç, Nurullah;
Booth, David R

Publication type:

Article

De novo mutations in familial adenomatous polyposis (FAP).

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 887, doi. 10.1038/sj.ejhg.5200904

By:

Ripa, R;
Bisgaard, M L;
Bulow, S;
Nielsen, F C

Publication type:

Article

Author index to volume 10.

Published in:: European Journal of Human Genetics, 2002, v. 10, n. 12, p. 889, doi. 10.1038/sj.ejhg.5200922
Publication type:: Article

Keyword index to volume 10.

Published in:: European Journal of Human Genetics, 2002, v. 10, n. 12, p. 894, doi. 10.1038/sj.ejhg.5200923
Publication type:: Article

European-wide opposition against the breast cancer gene patents.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 12, p. 783, doi. 10.1038/sj.ejhg.5200924

By:

Matthijs, Gert;
Halley, Dicky

Publication type:

Article