Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 8

Results: 18

Remarkable variability in renal disease in a large Slovenian family with Fabry disease.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 678, doi. 10.1038/sj.ejhg.5201184

By:

Franc Verovnik;
Davorin Benko;
Bojan Vujkovac;
Gabor E Linthorst

Publication type:

Article

Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 673, doi. 10.1038/sj.ejhg.5201190

By:

Paal S Andersen;
Ole Havndrup;
Henning Bundgaard;
Lars A Larsen;
Jens Vuust;
Anders K Pedersen;
Keld Kjeldsen;
Michael Christiansen

Publication type:

Article

Genetics of mitochondrial diseases.

Published in:

2004

By:

J Morrison, Patrick

Publication type:

Book Review

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 682, doi. 10.1038/sj.ejhg.5201198

By:

Ilaria Longo;
Luisa Russo;
Ilaria Meloni;
Iolanda Ricci;
Francesca Ariani;
Chiara Pescucci;
Carmela Tiziana Giordano;
Roberto Canitano;
Giuseppe Hayek;
Michele Zappella;
Giovanni Neri;
Alessandra Renieri;
Fiorella Gurrieri

Publication type:

Article

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 604, doi. 10.1038/sj.ejhg.5201199

By:

Grzegorz M Burzynski;
Ilja M Nolte;
Jan Osinga;
Isabella Ceccherini;
Bas Twigt;
Saskia Maas;
Alice Brooks;
Joke Verheij;
Ivan Plaza Menacho;
Charles Hcm Buys;
Robert Mw Hofstra

Publication type:

Article

Chromosome Abnormalities and Genetic Counselling.

Published in:

2004

By:

Brondum-Nielsen, Karen

Publication type:

Book Review

Association between a polymorphism in the carboxyl ester lipase gene and serum cholesterol profile.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 627, doi. 10.1038/sj.ejhg.5201204

By:

Sara H Bengtsson-ellmark;
Jeanette Nilsson;
Marju Orho-melander;
Kerstin Dahlenborg;
Leif Groop;
Gunnar Bjursell

Publication type:

Article

Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 613, doi. 10.1038/sj.ejhg.5201205

By:

Veronica Latini;
Gabriella Sole;
Silvia Doratiotto;
Daniela Poddie;
Marc Memmi;
Laurent Varesi;
Giuseppe Vona;
Antonio Cao;
Maria Serafina Ristaldi

Publication type:

Article

BRCA1/2 predictive testing: a study of uptake in two centres.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 654, doi. 10.1038/sj.ejhg.5201206

By:

Lucy Brooks;
Fiona Lennard;
Andrew Shenton;
Fiona Lalloo;
Ingrid Ambus;
Audrey Ardern-Jones;
Rachel Belk;
Bronwyn Kerr;
David Craufurd;
Rosalind Eeles;
D Gareth Evans

Publication type:

Article

Claes Lundsteen-in Memoriam.

Published in:

2004

By:

Graham, Jim;
Blennow, Elisabeth;
Boavida, M Guida;
Carter, Nigel;
Cremer, Christoph;
Cremer, Thomas;
Delattre, Olivier;
Gerdes, Tommy;
Granum, Erik;
Hagemeijer, Anne;
Rivas, Jesus Maria Hernandez;
Kallioniemi, Olli;
Kirchhoff, Maria;
Kølvraa, Steen;
Lichter, Peter;
Pearson, Peter;
Philip, John;
Piper, Jim;
van der Ploeg, Mels;
Raap, Anton K

Publication type:

Obituary

Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 668, doi. 10.1038/sj.ejhg.5201209

By:

Nath, Swapan K;
Namjou, Bahram;
Hutchings, David;
Garriott, C. Phillip;
Pongratz, Catherine;
Guthridge, Joel;
James, Judith J

Publication type:

Article

BRCA1 and sex ratio.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 663, doi. 10.1038/sj.ejhg.5201210

By:

Struewing, Jeffery P;
Hartge, Patricia;
Wacholder, Sholom;
Tucker, Margaret A;
Greene, Mark H

Publication type:

Article

Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 647, doi. 10.1038/sj.ejhg.5201211

By:

Patsalis, Philippos C;
Evangelidou, Paola;
Charalambous, Spyros;
Sismani, Carolina

Publication type:

Article

Application of microarrays to the analysis of the inactivation status of human X-linked genes expressed in lymphocytes.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 639, doi. 10.1038/sj.ejhg.5201212

By:

Craig, Ian W;
Mill, Jonathan;
Craig, Gavin M;
Loat, Caroline;
Schalkwyk, Leonard C

Publication type:

Article

Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 620, doi. 10.1038/sj.ejhg.5201214

By:

Barreto, Marta;
Santos, Eugénia;
Ferreira, Ricardo;
Fesel, Constantin;
Fontes, Maria Francisca;
Pereira, Clara;
Martins, Berta;
Andreia, Rita;
Viana, João Faro;
Crespo, Francisco;
Vasconcelos, Carlos;
Ferreira, Carlos;
Vicente, Astrid Moura

Publication type:

Article

TEAM: a tool for the integration of expression, and linkage and association maps.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 633, doi. 10.1038/sj.ejhg.5201215

By:

Lude Franke;
Harm Van Bakel;
Begoña Diosdado;
Martine Van Belzen;
Martin Wapenaar;
Cisca Wijmenga

Publication type:

Article

Lipoxygenases at the heart of atherosclerosis susceptibility.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 8, p. 601, doi. 10.1038/sj.ejhg.5201231

By:

Hofker, Marten

Publication type:

Article

Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity.

Published in:

2004

By:

Nath, Swapan K;
Namjou, Bahram;
Hutchings, David;
Garriott, C Phillip;
Pongratz, Catherine;
Guthridge, Joel;
James, Judith A

Publication type:

Correction Notice