Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 11

Results: 20

Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1138, doi. 10.1038/ejhg.2011.99

By:

Ibala-Romdhane, Samira;
Al-Khtib, Mohamed;
Khoueiry, Rita;
Blachère, Thierry;
Guérin, Jean-François;
Lefèvre, Annick

Publication type:

Article

Genetic determination of human facial morphology: links between cleft-lips and normal variation.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1192, doi. 10.1038/ejhg.2011.110

By:

Boehringer, Stefan;
van der Lijn, Fedde;
Liu, Fan;
Günther, Manuel;
Sinigerova, Stella;
Nowak, Stefanie;
Ludwig, Kerstin U;
Herberz, Ruth;
Klein, Stefan;
Hofman, Albert;
Uitterlinden, Andre G;
Niessen, Wiro J;
Breteler, Monique M B;
van der Lugt, Aad;
Würtz, Rolf P;
Nöthen, Markus M;
Horsthemke, Bernhard;
Wieczorek, Dagmar;
Mangold, Elisabeth;
Kayser, Manfred

Publication type:

Article

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1144, doi. 10.1038/ejhg.2011.97

By:

Armour, Christine M;
Bulman, Dennis E;
Jarinova, Olga;
Rogers, Richard Curtis;
Clarkson, Kate B;
DuPont, Barbara R;
Dwivedi, Alka;
Bartel, Frank O;
McDonell, Laura;
Schwartz, Charles E;
Boycott, Kym M;
Everman, David B;
Graham, Gail E

Publication type:

Article

Fabry or not Fabry - a question of ascertainment.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1111, doi. 10.1038/ejhg.2011.87

By:

Houge, Gunnar;
Tøndel, Camilla;
Kaarbøe, Øyvind;
Hirth, Asle;
Bostad, Leif;
Svarstad, Einar

Publication type:

Article

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1133, doi. 10.1038/ejhg.2011.101

By:

Laccone, Franco;
Schoner, Katharina;
Krabichler, Birgit;
Kluge, Britta;
Schwerdtfeger, Robin;
Schulze, Bernt;
Zschocke, Johannes;
Rehder, Helga

Publication type:

Article

Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1202, doi. 10.1038/ejhg.2011.104

By:

Gregory, Melissa K;
Lester, Susan E;
Cook-Johnson, Rebecca J;
Gibson, Robert A;
Proudman, Susanna M;
Cleland, Leslie G;
James, Michael J

Publication type:

Article

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1161, doi. 10.1038/ejhg.2011.98

By:

Abou Jamra, R;
Wohlfart, Sigrun;
Zweier, Markus;
Uebe, Steffen;
Priebe, Lutz;
Ekici, Arif;
Giesebrecht, Susanne;
Abboud, Ahmad;
Al Khateeb, Mohammed Ayman;
Fakher, Mahmoud;
Hamdan, Saber;
Ismael, Amina;
Muhammad, Safia;
Nöthen, Markus M;
Schumacher, Johannes;
Reis, André

Publication type:

Article

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95

By:

Ghoumid, Jamal;
Andrieux, Joris;
Sablonnière, Bernard;
Odent, Sylvie;
Philippe, Nathalie;
Zanlonghi, Xavier;
Saugier-Veber, Pascale;
Bardyn, Thomas;
Manouvrier-Hanu, Sylvie;
Holder-Espinasse, Muriel

Publication type:

Article

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1114, doi. 10.1038/ejhg.2011.109

By:

Berthels, Nele;
Matthijs, Gert;
Van Overwalle, Geertrui

Publication type:

Article

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1187, doi. 10.1038/ejhg.2011.113

By:

Evans, D Gareth R;
O'Hara, Catherine;
Wilding, Anna;
Ingham, Sarah L;
Howard, Elizabeth;
Dawson, John;
Moran, Anthony;
Scott-Kitching, Vilka;
Holt, Felicity;
Huson, Susan M

Publication type:

Article

Clinical utility gene card for: Dyskeratosis congenita.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.90

By:

Dokal, Inderjeet;
Vulliamy, Tom;
Mason, Philip;
Bessler, Monica

Publication type:

Article

Are the kids really all right? Direct-to-consumer genetic testing in children: are company policies clashing with professional norms?

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1122, doi. 10.1038/ejhg.2011.94

By:

Howard, Heidi Carmen;
Avard, Denise;
Borry, Pascal

Publication type:

Article

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108

By:

Orrico, Alfredo;
Galli, Lucia;
Clayton-Smith, Jill;
Fryns, Jean-Pierre

Publication type:

Article

The causality of de novo copy number variants is overestimated.

Published in:

2011

By:

Vermeesch, Joris R;
Balikova, Irina;
Schrander-Stumpel, Connie;
Fryns, Jean-Pierre;
Devriendt, Koenraad

Publication type:

Letter

An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1173, doi. 10.1038/ejhg.2011.96

By:

Piro, Rosario Michael;
Ala, Ugo;
Molineris, Ivan;
Grassi, Elena;
Bracco, Chiara;
Perego, Gian Paolo;
Provero, Paolo;
Di Cunto, Ferdinando

Publication type:

Article

Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1167, doi. 10.1038/ejhg.2011.103

By:

Moon, Sanghoon;
Kim, Young Jin;
Hong, Chang Bum;
Kim, Dong-Joon;
Lee, Jong-Young;
Kim, Bong-Jo

Publication type:

Article

Clinical utility gene card for: Haemophilia A.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.107

By:

Keeney, Steve;
Cumming, Tony;
Jenkins, P Vincent;
O'Donnell, James S;
Nash, Michael J

Publication type:

Article

The tRNA<sup>Met</sup> 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1181, doi. 10.1038/ejhg.2011.111

By:

Lu, Zhongqiu;
Chen, Hong;
Meng, Yanzi;
Wang, Yan;
Xue, Ling;
Zhi, Shaoce;
Qiu, Qiaomeng;
Yang, Li;
Mo, Jun Qin;
Guan, Min-Xin

Publication type:

Article

Opinions and intentions of parents of an autistic child toward genetic research results: two typical profiles.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1127, doi. 10.1038/ejhg.2011.106

By:

Baret, Laurence;
Godard, Beatrice

Publication type:

Article

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1152, doi. 10.1038/ejhg.2011.120

By:

Feenstra, Ilse;
Hanemaaijer, Nicolien;
Sikkema-Raddatz, Birgit;
Yntema, Helger;
Dijkhuizen, Trijnie;
Lugtenberg, Dorien;
Verheij, Joke;
Green, Andrew;
Hordijk, Roel;
Reardon, William;
Vries, Bert de;
Brunner, Han;
Bongers, Ernie;
Leeuw, Nicole de;
van Ravenswaaij-Arts, Conny

Publication type:

Article