Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 3

Results: 21

Lactase persistence-related genetic variant: population substructure and health outcomes.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 357, doi. 10.1038/ejhg.2008.156

By:

Smith, George Davey;
Lawlor, Debbie A.;
Timpson, Nic J.;
Baban, Jamil;
Kiessling, Matt;
Day, Ian N. M.;
Ebrahim, Shah

Publication type:

Article

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004).

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 295, doi. 10.1038/ejhg.2008.164

By:

Bernhardt, Christiane;
Schwan, Anne-Marie;
Kraus, Peter;
Epplen, Joerg Thomas;
Kunstmann, Erdmute

Publication type:

Article

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 352, doi. 10.1038/ejhg.2008.169

By:

Wjst, Matthias;
Lichtner, Peter;
Meitinger, Thomas;
Grimbacher, Bodo

Publication type:

Article

Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 319, doi. 10.1038/ejhg.2008.170

By:

Nellist, Mark;
van den Heuvel, Diana;
Schluep, Diane;
Exalto, Carla;
Goedbloed, Miriam;
Maat-Kievit, Anneke;
van Essen, Ton;
van Spaendonck-Zwarts, Karin;
Jansen, Floor;
Helderman, Paula;
Bartalini, Gabriella;
Vierimaa, Outi;
Penttinen, Maila;
van den Ende, Jenneke;
van den Ouweland, Ans;
Halley, Dicky

Publication type:

Article

Identification of a prostate cancer susceptibility gene on chromosome 5p13q12 associated with risk of both familial and sporadic disease.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 368, doi. 10.1038/ejhg.2008.171

By:

FitzGerald, Liesel M.;
Patterson, Briony;
Thomson, Russell;
Polanowski, Andrea;
Quinn, Stephen;
Brohede, Jesper;
Thornton, Timothy;
Challis, David;
Mackey, David A.;
Dwyer, Terence;
Foote, Simon;
Hannan, Garry N.;
Stankovich, James;
McKay, James D.;
Dickinson, Joanne L.

Publication type:

Article

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 329, doi. 10.1038/ejhg.2008.172

By:

Konings, Annelies;
Van Laer, Lut;
Michel, Sophie;
Pawelczyk, Malgorzata;
Carlsson, Per-Inge;
Bondeson, Marie-Louise;
Rajkowska, Elzbieta;
Dudarewicz, Adam;
Vandevelde, Ann;
Fransen, Erik;
Huyghe, Jeroen;
Borg, Erik;
Sliwinska-Kowalska, Mariola;
Van Camp, Guy

Publication type:

Article

Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.

Published in:

2009

By:

Lybæk, Helle;
Meza-Zepeda, Leonardo A.;
Kresse, Stine H.;
Høysæter, Trude;
Steen, Vidar M.;
Houge, Gunnar

Publication type:

Correction Notice

Mutations in mammalian tolloid-like 1 gene detected in adult patients with ASD.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 344, doi. 10.1038/ejhg.2008.175

By:

Stańczak, Paweł;
Witecka, Joanna;
Szydło, Anna;
Gutmajster, Ewa;
Lisik, Małgorzata;
Auguściak-Duma, Aleksandra;
Tarnowski, Maciej;
Czekaj, Tomasz;
Czekaj, Hanna;
Sieroń, Aleksander L

Publication type:

Article

A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 387, doi. 10.1038/ejhg.2008.186

By:

Petit, François M.;
Hébert, Marylise;
Picone, Olivier;
Brisset, Sophie;
Maurin, Marie-Laure;
Parisot, Frédéric;
Capel, Liliane;
Benattar, Clarisse;
Sénat, Marie-Victoire;
Tachdjian, Gérard;
Labrune, Philippe

Publication type:

Article

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 378, doi. 10.1038/ejhg.2008.180

By:

Backx, Liesbeth;
Ceulemans, Berten;
Vermeesch, Joris Robert;
Devriendt, Koen;
Van Esch, Hilde

Publication type:

Article

SNP frequency estimation using massively parallel sequencing of pooled DNA.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 383, doi. 10.1038/ejhg.2008.182

By:

Ingman, Max;
Gyllensten, Ulf

Publication type:

Article

A reliable cell-based assay for testing unclassified TSC2 gene variants.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 301, doi. 10.1038/ejhg.2008.184

By:

Coevoets, Ricardo;
Arican, Sermin;
Hoogeveen-Westerveld, Marianne;
Simons, Erik;
van den Ouweland, Ans;
Halley, Dicky;
Nellist, Mark

Publication type:

Article

H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 287, doi. 10.1038/ejhg.2008.185

By:

Canu, Elisa;
Boccardi, Marina;
Ghidoni, Roberta;
Benussi, Luisa;
Testa, Cristina;
Pievani, Michela;
Bonetti, Matteo;
Binetti, Giuliano;
Frisoni, Giovanni B

Publication type:

Article

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 311, doi. 10.1038/ejhg.2008.178

By:

Bocciardi, Renata;
Bordo, Domenico;
Di Duca, Marco;
Di Rocco, Maja;
Ravazzolo, Roberto

Publication type:

Article

Fine-mapping and candidate gene investigation within the PARK10 locus.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 336, doi. 10.1038/ejhg.2008.187

By:

Haugarvoll, Kristoffer;
Toft, Mathias;
Skipper, Lisa;
Heckman, Michael G.;
Crook, Julia E.;
Soto, Alexandra;
Ross, Owen A.;
Hulihan, Mary M.;
Kachergus, Jennifer M.;
Sando, Sigrid B.;
White, Linda R.;
Lynch, Timothy;
Gibson, J. Mark;
Uitti, Ryan J.;
Wszolek, Zbigniew K.;
Aasly, Jan O.;
Farrer, Matthew J.

Publication type:

Article

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

Published in:

2009

By:

D'Adamo, Pio;
Guerci, Veronica Ileana;
Fabretto, Antonella;
Faletra, Flavio;
Grasso, Domenico Leonardo;
Ronfani, Luca;
Montico, Marcella;
Morgutti, Marcello;
Guastalla, PierPaolo;
Gasparini, Paolo

Publication type:

Letter

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 395, doi. 10.1038/ejhg.2008.200

By:

Huber, Céline;
Delezoide, Anee-Lise;
Guimiot, Fabien;
Baumann, Clarisse;
Malan, Valérie;
Le Merrer, Martine;
Da Silva, Daniela Bezerra;
Bonneau, Dominique;
Chatelain, Pierre;
Chu, Carol;
Clark, Robin;
Cox, Helen;
Edery, Patrick;
Edouard, Thomas;
Fano, Virginia;
Gibson, Kate;
Gillessen-Kaesbach, Gabriele;
Maria-Luisa Giovannucci-Uzielli;
Graul-Neumann, Luitgard Margarete;
van Hagen, Johana-Maria

Publication type:

Article

Of wolves and men: the role of paternal child care in the evolution of genomic imprinting.

Published in:

2009

By:

Horsthemke, Bernhard

Publication type:

Editorial

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Published in:

2009

By:

Shoukier, Moneef;
Neesen, Juergen;
Sauter, Simone M.;
Argyriou, Loukas;
Doerwald, Nadine;
Pantakani, D. V. Krishna;
Mannan, Ashraf U.

Publication type:

Correction Notice

Treacher Collins syndrome: etiology, pathogenesis and prevention.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 275, doi. 10.1038/ejhg.2008.221

By:

Trainor, Paul A.;
Dixon, Jill;
Dixon, Michael J.

Publication type:

Article

Sequence variant on 9p21 is associated with the presence of abdominal aortic aneurysm disease but does not have an impact on aneurysmal expansion.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 3, p. 391, doi. 10.1038/ejhg.2008.196

By:

Thompson, Andrew R.;
Golledge, Jonathan;
Cooper, Jackie A.;
Hafez, Hany;
Norman, Paul E.;
Humphries, Steve E.

Publication type:

Article