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

Results: 18

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
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
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
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
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
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
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
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
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
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
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
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
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