Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 4

Results: 24

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 500, doi. 10.1038/sj.ejhg.5201322

By:

Kelly, Helena;
Ennis, Sean;
Yoneda, Akihiro;
Bermingham, Claire;
Shields, Denis C.;
Molony, Cliona;
Green, Andrew J.;
Puri, Prem;
Barton, David E.

Publication type:

Article

No germline FH mutations in familial breast cancer patients.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 506, doi. 10.1038/sj.ejhg.5201326

By:

Kiuru, Maija;
Lehtonen, Rainer;
Eerola, Hannaleena;
Aittomäki, Kristiina;
Blomqvist, Carl;
Nevanlinna, Heli;
Aaltonen, Lauri A.;
Launonen, Virpi

Publication type:

Article

X-chromosome as a marker for population history: linkage disequilibrium and haplotype study in Eurasian populations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 452, doi. 10.1038/sj.ejhg.5201340

By:

Laan, Maris;
Wiebe, Victor;
Khusnutdinova, Elza;
Remm, Maido;
Pääbo, Svante

Publication type:

Article

A common CTLA4 haplotype associated with coeliac disease.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 440, doi. 10.1038/sj.ejhg.5201357

By:

Hunt, Karen A.;
McGovern, Dermot P. B.;
Kumar, Parveen J.;
Ghosh, Subrata;
Travis, Simon P. L.;
Walters, Julian R. F.;
Jewell, Derek P.;
Playford, Raymond J.;
van Heel, David A.

Publication type:

Article

Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201341

By:

Kollberg, Gittan;
Jansson, Monica;
Pérez-Bercoff, Åsa;
Melberg, Atle;
Lindberg, Christopher;
Holme, Elisabeth;
Moslemi, Ali-Reza;
Oldfors, Anders

Publication type:

Article

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 503, doi. 10.1038/sj.ejhg.5201325

By:

de Ravel, Thomy J. L.;
Taylor, Indira B.;
Van Oostveldt, Alex J. T.;
Fryns, Jean-Pierre;
Wilkie, Andrew O. M.

Publication type:

Article

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 470, doi. 10.1038/sj.ejhg.5201343

By:

Vink, Geraldine R.;
White, Stefan J.;
Gabelic, Strelicija;
Hogendoorn, Pancras C. W.;
Breuning, Martijn H.;
Bakker, Egbert

Publication type:

Article

Determination of the‘critical region’for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 475, doi. 10.1038/sj.ejhg.5201345

By:

Wu, Qingfa;
Niebuhr, Erik;
Yang, Huanming;
Hansen, Lars

Publication type:

Article

Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 513, doi. 10.1038/sj.ejhg.5201344

By:

Tchernitchko, Dimitri;
Chiminqgi, Mihelaiti;
Galactéros, Frédéric;
Préhu, Claude;
Segbena, Yvon;
Coulibaly, Hamidou;
Rebaya, Nadia;
Loric, Sylvain

Publication type:

Article

Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201347

By:

Xu, Jian Yu;
Dan, Qing Hong;
Chan, Vivian;
Wat, Nelson M. S.;
Tam, Sidney;
Tiu, Sau Cheung;
Lee, Ka Fai;
Siu, Shing Chung;
Tsang, Man Wo;
Fung, Lai Ming;
Chan, Kin Wah;
Lam, Karen S. L.

Publication type:

Article

Confidentiality and serious harm in genetics.

Published in:

2005

By:

Clarke, Angus

Publication type:

Letter

Dilemma still not resolved.

Published in:

2005

By:

Lucassen, Anneke;
Parker, Michael

Publication type:

Letter

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 409, doi. 10.1038/sj.ejhg.5201358

By:

Brémond-Gignac, Dominique;
Crolla, John A.;
Copin, Henri;
Guichet, Agnès;
Bonneau, Dominique;
Taine, Laurence;
Lacombe, Didier;
Baumann, Clarisse;
Benzacken, Brigitte;
Verloes, Alain

Publication type:

Article

Cascade testing in familial hypercholesterolaemia: how should family members be contacted?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 401, doi. 10.1038/sj.ejhg.5201360

By:

Newson, Ainsley J.;
Humphries, Steve E.

Publication type:

Article

Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 428, doi. 10.1038/sj.ejhg.5201351

By:

Ribasés, Marta;
Gratacòs, Mònica;
Fernández-Aranda, Fernando;
Bellodi, Laura;
Boni, Claudette;
Anderluh, Marija;
Cavallini, Maria Cristina;
Cellini, Elena;
Di Bella, Daniela;
Erzegovesi, Stefano;
Foulon, Christine;
Gabrovsek, Mojca;
Gorwood, Philip;
Hebebrand, Johannes;
Hinney, Anke;
Holliday, Jo;
Hu, Xun;
Karwautz, Andreas;
Kipman, Amélie;
Komel, Radovan

Publication type:

Article

Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 510, doi. 10.1038/sj.ejhg.5201352

By:

Hoffmann, Florian;
Lohse, Peter;
Stojanov, Silvia;
Shin, Yoon S.;
Renner, Ellen D.;
Kéry, Anja;
Zellerer, Stephanie;
Belohradsky, Bernd H.

Publication type:

Article

Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 486, doi. 10.1038/sj.ejhg.5201353

By:

El-Maarri, Osman;
Seoud, Muhieddine;
Rivière, Jean-Baptiste;
Oldenburg, Johannes;
Walter, Jörn;
Rouleau, Guy;
Slim, Rima

Publication type:

Article

Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 435, doi. 10.1038/sj.ejhg.5201355

By:

Painter, Jodie N.;
Savander, Miia;
Ropponen, Anne;
Nupponen, Nina;
Riikonen, Seija;
Ylikorkala, Olavi;
Lehesjoki, Anna-Elina;
Aittomäki, Kristiina

Publication type:

Article

A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 491, doi. 10.1038/sj.ejhg.5201356

By:

Marino, Cecilia;
Giorda, Roberto;
Luisa Lorusso, Maria;
Vanzin, Laura;
Salandi, Nello;
Nobile, Maria;
Citterio, Alessandra;
Beri, Silvana;
Crespi, Valentina;
Battaglia, Marco;
Molteni, Massimo

Publication type:

Article

Research Network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 395, doi. 10.1038/sj.ejhg.5201359

By:

Matthijs, Gert

Publication type:

Article

Defective protein glycosylation in patients with cutis laxa syndrome.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361

By:

Morava, Eva;
Wopereis, Suzan;
Coucke, Paul;
Gillessen-Kaesbach, Gabrielle;
Voit, Thomas;
Smeitink, Jan;
Wevers, Ron;
Grünewald, Stephanie

Publication type:

Article

Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 445, doi. 10.1038/sj.ejhg.5201362

By:

Souverein, Olga W.;
Jukema, J. Wouter;
Boekholdt, S. Matthijs;
Zwinderman, Aeilko H.;
Tanck, Michael W. T.

Publication type:

Article

Cascade Screening: Whose information is it anyway?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 397, doi. 10.1038/sj.ejhg.5201373

By:

de Wert, Guido

Publication type:

Article

Cancer Genetics: Activated Notch takes center stage in T-cell leukemogenesis.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 4, p. 393, doi. 10.1038/sj.ejhg.5201380

By:

Chiang, Mark Y.;
Pear, Warren S.

Publication type:

Article