Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 1

Results: 18

Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 14, doi. 10.1038/sj.ejhg.5201940

By:

Homsma, Sietske J. M.;
Huijgen, Roeland;
Middeldorp, Saskia;
Sijbrands, Eric J. G.;
Kastelein, John J. P.

Publication type:

Article

Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 45, doi. 10.1038/sj.ejhg.5201915

By:

South, Sarah T.;
Whitby, Heidi;
Battaglia, Agatino;
Carey, John C.;
Brothman, Arthur R.

Publication type:

Article

Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 79, doi. 10.1038/sj.ejhg.5201904

By:

Pasini, Barbara;
McWhinney, Sarah R.;
Bei, Thalia;
Matyakhina, Ludmila;
Stergiopoulos, Sotirios;
Muchow, Michael;
Boikos, Sosipatros A.;
Ferrando, Barbara;
Pacak, Karel;
Assie, Guillaume;
Baudin, Eric;
Chompret, Agnes;
Ellison, Jay W.;
Briere, Jean-Jacques;
Rustin, Pierre;
Gimenez-Roqueplo, Anne-Paule;
Eng, Charis;
Carney, J. Aidan;
Stratakis, Constantine A.

Publication type:

Article

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 115, doi. 10.1038/sj.ejhg.5201905

By:

Hanein, Sylvain;
Perrault, Isabelle;
Gerber, Sylvie;
Delphin, Nathalie;
Benezra, David;
Shalev, Stavit;
Carmi, Rivka;
Feingold, Josué;
Dufier, Jean-Louis;
Munnich, Arnold;
Kaplan, Josseline;
Rozet, Jean-Michel;
Jeanpierre, Marc

Publication type:

Article

Sex-specific interaction between APOE and APOA5 variants and determination of plasma lipid levels.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 135, doi. 10.1038/sj.ejhg.5201941

By:

Hubacek, Jaroslav A.;
Lánská, Věra;
Škodová, Zdena;
Adámková, Věra;
Poledne, Rudolf

Publication type:

Article

New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 124, doi. 10.1038/sj.ejhg.5201906

By:

Thomas, Mark G.;
Barnes, Ian;
Weale, Michael E.;
Jones, Abigail L.;
Forster, Peter;
Bradman, Neil;
Pramstaller, Peter P.

Publication type:

Article

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 53, doi. 10.1038/sj.ejhg.5201916

By:

Ashton, Emma J.;
Yau, Shu C.;
Deans, Zandra C.;
Abbs, Stephen J.

Publication type:

Article

Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 105, doi. 10.1038/sj.ejhg.5201920

By:

Engert, James C.;
Lemire, Mathieu;
Faith, Janet;
Brisson, Diane;
Fujiwara, T. Mary;
Roslin, Nicole M.;
Brewer, Carl G.;
Montpetit, Alexandre;
Darmond-Zwaig, Corinne;
Renaud, Yannick;
Doré, Carole;
Bailey, Swneke D.;
Verner, Andrei;
Tremblay, Gérald;
St-Pierre, Julie;
Bétard, Christine;
Platko, Jill;
Rioux, John D.;
Morgan, Kenneth;
Hudson, Thomas J.

Publication type:

Article

Mental deficiency in three families with SPG4 spastic paraplegia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 97, doi. 10.1038/sj.ejhg.5201922

By:

Ribaï, Pascale;
Depienne, Christel;
Fedirko, Estelle;
Jothy, Anne-Catherine;
Viveweger, Caterine;
Hahn-Barma, Valérie;
Brice, Alexis;
Durr, Alexandra

Publication type:

Article

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 89, doi. 10.1038/sj.ejhg.5201917

By:

Lezirovitz, Karina;
Pardono, Eliete;
de Mello Auricchio, Maria T. B.;
de Carvalho e Silva, Fernando L.;
Lopes, Juliana J.;
Abreu-Silva, Ronaldo S.;
Romanos, Jihane;
Batissoco, Ana C.;
Mingroni-Netto, Regina C.

Publication type:

Article

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 62, doi. 10.1038/sj.ejhg.5201923

By:

Krüger, Stefan;
Kinzel, Miriam;
Walldorf, Constanze;
Gottschling, Sven;
Bier, Andrea;
Tinschert, Sigrid;
von Stackelberg, Arend;
Henn, Wolfram;
Görgens, Heike;
Boue, Stephanie;
Kölble, Konrad;
Büttner, Reinhard;
Schackert, Hans K.

Publication type:

Article

Abnormal urethra formation in mouse models of Split-hand/split-foot malformation type 1 and type 4.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 36, doi. 10.1038/sj.ejhg.5201925

By:

Suzuki, Kentaro;
Haraguchi, Ryuma;
Ogata, Tsutomu;
Barbieri, Ottavia;
Alegria, Olinda;
Vieux-Rochas, Maxence;
Nakagata, Naomi;
Ito, Masataka;
Mills, Alea A.;
Kurita, Takeshi;
Levi, Giovanni;
Yamada, Gen

Publication type:

Article

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 18, doi. 10.1038/sj.ejhg.5201932

By:

Barber, John C. K.;
Maloney, Viv K.;
Shuwen Huang;
Bunyan, David J.;
Cresswell, Lara;
Kinning, Esther;
Benson, Anna;
Cheetham, Tim;
Wyllie, Jonathan;
Lynch, Sally Ann;
Zwolinski, Simon;
Prescott, Laura;
Crow, Yanick;
Morgan, Rob;
Hobson, Emma

Publication type:

Article

Allele-specific regulation of primary cilia function by the von Hippel–Lindau tumor suppressor.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 73, doi. 10.1038/sj.ejhg.5201930

By:

Lolkema, Martijn P.;
Mans, Dorus A.;
Ulfman, Laurien H.;
Volpi, Stefano;
Voest, Emile E.;
Giles, Rachel H.

Publication type:

Article

The impact of genetics and genomics on public health.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 5, doi. 10.1038/sj.ejhg.5201942

By:

Brand, Angela;
Brand, Helmut;
Schulte, Tobias

Publication type:

Article

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 28, doi. 10.1038/sj.ejhg.5201947

By:

Morava, E.;
Lefeber, D. J.;
Urban, Z.;
de Meirleir, L.;
Meinecke, P.;
Kaesbach, G. Gillessen;
Sykut-Cegielska, J.;
Adamowicz, M.;
Salafsky, I.;
Ranells, J.;
Lemyre, E.;
van Reeuwijk, J.;
Brunner, H. G.;
Wevers, R. A.

Publication type:

Article

Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 1, p. 2, doi. 10.1038/sj.ejhg.5201962

By:

Coman, David J.

Publication type:

Article

Popper revisited: GWAS here, last year.

Published in:

2008

By:

van Ommen, Gert-Jan B.

Publication type:

Editorial