Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 10

Results: 17

A qualitative study exploring genetic counsellors' experiences of counselling children.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1090, doi. 10.1038/ejhg.2010.86

By:

Ulph, Fiona;
Leong, James;
Glazebrook, Cris;
Townsend, Ellen

Publication type:

Article

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1100, doi. 10.1038/ejhg.2010.79

By:

Morris-Rosendahl, Deborah J.;
Segel, Reeval;
Born, A. Peter;
Conrad, Christoph;
Loeys, Bart;
Brooks, Susan Sklower;
Müller, Laura;
Zeschnigk, Christine;
Botti, Christina;
Rabinowitz, Ron;
Uyanik, Gökhan;
Crocq, Marc-Antoine;
Kraus, Uwe;
Degen, Ingrid;
Faes, Fran

Publication type:

Article

Genome-wide linkage analyses of hereditary prostate cancer families with colon cancer provide further evidence for a susceptibility locus on 15q11-q14.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1141, doi. 10.1038/ejhg.2010.49

By:

FitzGerald, Liesel M.;
McDonnell, Shannon K.;
Carlson, Erin E.;
Langeberg, Wendy;
McIntosh, Laura M.;
Deutsch, Kerry;
Ostrander, Elaine A.;
Schaid, Daniel J.;
Stanford, Janet L.

Publication type:

Article

A powerful score test to detect positive selection in genome-wide scans.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1148, doi. 10.1038/ejhg.2010.60

By:

Ming Zhong;
Lange, Kenneth;
Papp, Jeanette C.;
Ruzong Fan

Publication type:

Article

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1166, doi. 10.1038/ejhg.2010.80

By:

de Becdelièvre, Alix;
Costa, Catherine;
LeFloch, Annick;
Legendre, Marie;
Jouannic, Jean-Marie;
Vigneron, Jacqueline;
Bresson, Jean-Luc;
Gobin, Stéphanie;
Martin, Josiane;
Goossens, Michel;
Girodon, Emmanuelle

Publication type:

Article

The medical geneticist as expert in the transgenerational and developmental aspects of diseases.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1075, doi. 10.1038/ejhg.2010.100

By:

Kosztolányi, György;
Cassiman, Jean-Jacques

Publication type:

Article

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

Published in:

2010

By:

van Bon, Bregje W M;
Koolen, David A;
Brueton, Louise;
McMullan, Dominic;
Lichtenbelt, Klaske D;
Adès, Lesley C;
Peters, Gregory;
Gibson, Kate;
Moloney, Susan;
Novara, Francesca;
Pramparo, Tiziano;
Bernardina, Bernardo Dalla;
Zoccante, Leonardo;
Balottin, Umberto;
Piazza, Fausta;
Pecile, Vanna;
Gasparini, Paolo;
Guerci, Veronica;
Kets, Marleen;
Pfundt, Rolph

Publication type:

Correction Notice

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1095, doi. 10.1038/ejhg.2010.41

By:

Whibley, Annabel;
Urquhart, Jill;
Dore, Jonathan;
Willatt, Lionel;
Parkin, Georgina;
Gaunt, Lorraine;
Black, Graeme;
Donnai, Dian;
Raymond, F. Lucy

Publication type:

Article

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1084, doi. 10.1038/ejhg.2010.78

By:

McClaren, Belinda J.;
Metcalfe, Sylvia A.;
Aitken, MaryAnne;
Massie, R. John;
Ukoumunne, Obioha C.;
Amor, David J.

Publication type:

Article

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1107, doi. 10.1038/ejhg.2010.82

By:

Nicolas, Elsa;
Poitelon, Yannick;
Chouery, Eliane;
Salem, Nabiha;
Levy, Nicolas;
Mégarbané, André;
Delague, Valérie

Publication type:

Article

A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1121, doi. 10.1038/ejhg.2010.81

By:

Iseri, Sibel A. Ugur;
Durlu, Yusuf K.;
Tolun, Aslihan

Publication type:

Article

A screening methodology based on Random Forests to improve the detection of gene-gene interactions.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1127, doi. 10.1038/ejhg.2010.48

By:

De Lobel, Lizzy;
Geurts, Pierre;
Baele, Guy;
Castro-Giner, Francesc;
Kogevinas, Manolis;
Van Steen, Kristel

Publication type:

Article

Genomic profile of copy number variants on the short arm of human chromosome 8.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1114, doi. 10.1038/ejhg.2010.66

By:

Shihui Yu;
Fiedler, Stephanie;
Stegner, Andrew;
Graf, William D.

Publication type:

Article

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1160, doi. 10.1038/ejhg.2010.83

By:

Levitas, Aviva;
Muhammad, Emad;
Harel, Gali;
Saada, Ann;
Caspi, Vered Chalifa;
Manor, Esther;
Beck, John C.;
Sheffield, Val;
Parvari, Ruti

Publication type:

Article

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1133, doi. 10.1038/ejhg.2010.59

By:

Parri, Veronica;
Katzaki, Eleni;
Uliana, Vera;
Scionti, Francesca;
Tita, Rossella;
Artuso, Rosangela;
Longo, Ilaria;
Boschloo, Renske;
Vijzelaar, Raymon;
Selicorni, Angelo;
Brancati, Francesco;
Dallapiccola, Bruno;
Zelante, Leopoldo;
Hamel, Christian P.;
Sarda, Pierre;
Lalani, Seema R.;
Grasso, Rita;
Buoni, Sabrina;
Hayek, Joussef;
Servais, Laurent

Publication type:

Article

Carrier screening for Beta-thalassaemia: a review of international practice.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 10, p. 1077, doi. 10.1038/ejhg.2010.90

By:

Cousens, Nicole E.;
Gaff, Clara L.;
Metcalfe, Sylvia A.;
Delatycki, Martin B.

Publication type:

Article

An account of our past to inform our future.

Published in:

2010

By:

Skirton, Heather

Publication type:

Book Review