Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 12

Results: 15

What process attributes of clinical genetics services could maximise patient benefits?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1467, doi. 10.1038/ejhg.2008.121

By:

McAllister, Marion;
Payne, Katherine;
MacLeod, Rhona;
Nicholls, Stuart;
Donnai, Dian;
Davies, Linda

Publication type:

Article

Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1507, doi. 10.1038/ejhg.2008.102

By:

Ehret, Georg B.;
Morrison, Alanna C.;
O'Connor, Ashley A.;
Grove, Megan L.;
Baird, Lisa;
Schwander, Karen;
Weder, Alan;
Cooper, Richard S.;
Rao, D. C.;
Hunt, Steven C.;
Boerwinkle, Eric;
Chakravarti, Aravinda

Publication type:

Article

Genetic diversity patterns at the human clock gene period 2 are suggestive of population-specific positive selection.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1526, doi. 10.1038/ejhg.2008.105

By:

Cruciani, Fulvio;
Trombetta, Beniamino;
Labuda, Damian;
Modiano, David;
Torroni, Antonio;
Costa, Rodolfo;
Scozzari, Rosaria

Publication type:

Article

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1430, doi. 10.1038/ejhg.2008.110

By:

Collin, Rob W. J.;
de Heer, Anne-Martine R.;
Oostrik, Jaap;
Pauw, Robert-Jan;
Plantinga, Rutger F.;
Huygen, Patrick L.;
Admiraal, Ronald;
de Brouwer, Arjan P. M.;
Strom, Tim M.;
Cremers, Cor W. R. J.;
Kremer, Hannie

Publication type:

Article

Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119

By:

Bonaglia, Maria Clara;
Ciccone, Roberto;
Gimelli, Giorgio;
Gimelli, Stefania;
Marelli, Susan;
Verheij, Joke;
Giorda, Roberto;
Grasso, Rita;
Borgatti, Renato;
Pagone, Filomena;
Rodrìguez, Laura;
Martinez-Frias, Maria-Luisa;
van Ravenswaaij, Conny;
Zuffardi, Orsetta

Publication type:

Article

Array-based comparative genomic hybridization of mapped BAC DNA clones to screen for chromosome 14 copy number abnormalities in meningiomas.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1450, doi. 10.1038/ejhg.2008.128

By:

Espinosa, Ana Belén;
Mackintosh, Carlos;
Maíllo, Angel;
Gutierrez, Laura;
Sousa, Pablo;
Merino, Marta;
Ortiz, Javier;
de Alava, Enrique;
Orfao, Alberto;
Tabernero, María Dolores

Publication type:

Article

Influence of MUC1 genetic variation on prostate cancer risk and survival.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1521, doi. 10.1038/ejhg.2008.131

By:

Strawbridge, Rona J.;
Nister, Monica;
Brismar, Kerstin;
Chunde Li;
Lindström, Sara

Publication type:

Article

Predicting the number and sizes of IBD regions among family members and evaluating the family size requirement for linkage studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1535, doi. 10.1038/ejhg.2008.116

By:

Wanling Yang;
Zhanyong Wang;
Lusheng Wang;
Pak-Chung Sham;
Peng Huang;
Yu Lung Lau

Publication type:

Article

Familial aggregation of preeclampsia and intrauterine growth restriction in a genetically isolated population in The Netherlands.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1437, doi. 10.1038/ejhg.2008.118

By:

Berends, Anne L.;
Steegers, Eric A.;
Isaacs, Aaron;
Aulchenko, Y. S.;
Fan Liu;
de Groot, Christianne J.;
Oostra, Ben A.;
van Duijn, Cornelia M.

Publication type:

Article

Deciphering the genetics of hereditary non-syndromic colorectal cancer.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1477, doi. 10.1038/ejhg.2008.129

By:

Papaemmanuil, Eli;
Carvajal-Carmona, Luis;
Sellick, Gabrielle S.;
Kemp, Zoe;
Webb, Emily;
Spain, Sarah;
Sullivan, Kate;
Barclay, Ella;
Lubbe, Steven;
Jaeger, Emma;
Vijayakrishnan, Jayaram;
Broderick, Peter;
Gorman, Maggie;
Martin, Lynn;
Lucassen, Anneke;
Bishop, D. Timothy;
Evans, D. Gareth;
Maher, Eamonn R.;
Steinke, Verena;
Rahner, Nils

Publication type:

Article

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1499, doi. 10.1038/ejhg.2008.132

By:

Koehler, Katrin;
Brockmann, Knut;
Krumbholz, Manuela;
Kind, Barbara;
Bönnemann, Carsten;
Gärtner, Jutta;
Huebner, Angela

Publication type:

Article

Haplotypic analysis of tag SNPs of the interleukin-18 gene in relation to cardiovascular disease events: the MORGAM Project.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1512, doi. 10.1038/ejhg.2008.127

By:

Grisoni, Marie-Lise;
Proust, Carole;
Alanne, Mervi;
DeSuremain, Maylis;
Salomaa, Veikko;
Kuulasmaa, Kari;
Cambien, François;
Nicaud, Viviane;
Stegmayr, Birgitta;
Virtamo, Jarmo;
Shields, Denis;
Kee, Frank;
Tiret, Laurence;
Evans, Alun;
Tregouet, David-Alexandre

Publication type:

Article

Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1487, doi. 10.1038/ejhg.2008.130

By:

Tabolacci, Elisabetta;
Moscato, Umberto;
Zalfa, Francesca;
Bagni, Claudia;
Chiurazzi, Pietro;
Neri, Giovanni

Publication type:

Article

Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1459, doi. 10.1038/ejhg.2008.134

By:

Pasmant, Eric;
de Saint-Trivier, Aurélie;
Laurendeau, Ingrid;
Dieux-Coeslier, Anne;
Parfait, Béatrice;
Vidaud, Michel;
Vidaud, Dominique;
Bièche, Ivan

Publication type:

Article

Investigation of the fine structure of European populations with applications to disease association studies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1413, doi. 10.1038/ejhg.2008.210

By:

Heath, Simon C.;
Gut, Ivo G.;
Brennan, Paul;
McKay, James D.;
Bencko, Vladimir;
Fabianova, Eleonora;
Foretova, Lenka;
Georges, Michel;
Janout, Vladimir;
Kabesch, Michael;
Krokan, Hans E.;
Elvestad, Maiken B.;
Lissowska, Jolanta;
Mates, Dana;
Rudnai, Peter;
Skorpen, Frank;
Schreiber, Stefan;
Soria, José M.;
Syvänen, Ann-Christine;
Meneton, Pierre

Publication type:

Article