Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 11

Results: 15

Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1105, doi. 10.1038/sj.ejhg.5201896

By:

Vermeesch, Joris Robert;
Fiegler, Heike;
de Leeuw, Nicole;
Szuhai, Karoly;
Schoumans, Jacqueline;
Ciccone, Roberto;
Speleman, Frank;
Rauch, Anita;
Clayton-Smith, Jill;
Van Ravenswaaij, Conny;
Sanlaville, Damien;
Patsalis, Philippos C.;
Firth, Helen;
Devriendt, Koen;
Zuffardi, Orsetta

Publication type:

Article

Genetic analysis of the GRM1 gene in human melanoma susceptibility.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1176, doi. 10.1038/sj.ejhg.5201887

By:

Ortiz, Pablo;
Vanaclocha, Francisco;
López-Bran, Eduardo;
Esquivias, José Ignacio;
López-Estebaranz, José Luis;
Martín-Gonzílez, Manuel;
Arrue, Itziar;
García-Romero, Diana;
Ochoa, Carolina;
González-Perez, Antonio;
Ruiz, Agustin;
Real, Luis Miguel

Publication type:

Article

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1156, doi. 10.1038/sj.ejhg.5201889

By:

Linde, Liat;
Boelz, Stephanie;
Neu-Yilik, Gabriele;
Kulozik, Andreas E.;
Kerem, Batsheva

Publication type:

Article

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1145, doi. 10.1038/sj.ejhg.5201891

By:

Lévêque, Marianne;
Marlin, Sandrine;
Jonard, Laurence;
Procaccio, Vincent;
Reynier, Pascal;
Amati-Bonneau, Patrizia;
Baulande, Sylvain;
Pierron, Denis;
Lacombe, Didier;
Duriez, Françoise;
Francannet, Christine;
Mom, Thierry;
Journel, Hubert;
Catros, Hélène;
Drouin-Garraud, Valérie;
Obstoy, Marie-Françoise;
Dollfus, Hélène;
Eliot, Marie-Madeleine;
Faivre, Laurence;
Duvillard, Christian

Publication type:

Article

Co-introgression of Y-chromosome haplogroups and the sickle cell gene across Africa's Sahel.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1183, doi. 10.1038/sj.ejhg.5201892

By:

Bereir, Rihab E.;
Hassan, Hisham Y.;
Salih, Niven A.;
Underhill, Peter A.;
Cavalli-Sforza, Luigi L.;
Hussain, Ayman A.;
Kwiatkowski, Dominic;
Ibrahim, Muntaser E.

Publication type:

Article

Risk estimation for familial breast cancer: improving the system of counselling.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1139, doi. 10.1038/sj.ejhg.5201895

By:

Gregory, Helen;
Wordsworth, Sarah;
Gibbons, Barbara;
Wilson, Brenda;
Haites, Heva

Publication type:

Article

A new mutation in TP63 is associated with age-related pathology.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1115, doi. 10.1038/sj.ejhg.5201888

By:

Holder-Espinasse, Muriel;
Martin-Coignard, Dominique;
Escande, Fabienne;
Manouvrier-Hanu, Sylvie

Publication type:

Article

A functional mutation in the LDLR promoter (−139C>G) in a patient with familial hypercholesterolemia.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1186, doi. 10.1038/sj.ejhg.5201897

By:

Smith, Andrew J. P.;
Ahmed, Fayha;
Nair, Devi;
Whittall, Ros;
Wang, Darrell;
Taylor, Alison;
Norbury, Gail;
Humphries, Steve E.

Publication type:

Article

Consent and confidentiality: Consent and Confidentiality in Genetic Practice.

Published in:

2007

By:

Coviello, Domenico

Publication type:

Book Review

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1132, doi. 10.1038/sj.ejhg.5201899

By:

Flipsen-ten Berg, Klara;
van Hasselt, Peter M.;
Eleveld, Marc J.;
van der Wijst, Suzanne E.;
Hol, Frans A.;
de Vroede, Monique A. M.;
Beemer, Frits A.;
Hochstenbach, P. F. Ron;
Poot, Martin

Publication type:

Article

Two-stage association tests for genome-wide association studies based on family data with arbitrary family structure.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1169, doi. 10.1038/sj.ejhg.5201902

By:

Tao Feng;
Shuanglin Zhang;
Qiuying Sha

Publication type:

Article

In memoriam: Dr Marina Seabright.

Published in:

2007

By:

Barber, John;
Cockwell, Annette;
Herbert, Tony;
Dennis, Nick;
Harvey, John;
McDermott, Alan

Publication type:

Obituary

Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1121, doi. 10.1038/sj.ejhg.5201900

By:

Sanggaard, Kirsten Marie;
Rendtorff, Nanna Dahl;
Kjaer, Klaus Wilbrandt;
Eiberg, Hans;
Johnsen, Torsten;
Gimsing, Steen;
Dyrmose, Jørgen;
Nielsen, Kristian Otto;
Lage, Kasper;
Tranebjærg, Lisbeth

Publication type:

Article

Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1163, doi. 10.1038/sj.ejhg.5201901

By:

Winkler, Susan;
König, Inke R.;
Lohmann-Hedrich, Katja;
Vieregge, Peter;
Kostic, Vladimir;
Klein, Christine

Publication type:

Article

Deletions Revealing Recessive Genes: Deletions that reveal recessive genes.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1103, doi. 10.1038/sj.ejhg.5201919

By:

Coman, David J.;
Gardner, R. J. McKinlay

Publication type:

Article