Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 11

Results: 14

Power of QTL detection using association tests with family controls.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 819, doi. 10.1038/sj.ejhg.5201042
By:
- Hernández-Sánchez, Jules;
- Haley, Chris S.;
- Visscher, Peter M.
Publication type:
Article
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 858, doi. 10.1038/sj.ejhg.5201050
By:
- Türkmen, Seval;
- Gillessen-Kaesbach, Gabriele;
- Meinecke, Peter;
- Albrecht, Beate;
- Neumann, Luitgard M.;
- Hesse, Volker;
- Palanduz, Sükrü;
- Balg, Stefanie;
- Majewski, Frank;
- Fuchs, Sigrun;
- Zschieschang, Petra;
- Greiwe, Monika;
- Mennicke, Kirsten;
- Kreuz, Friedmar R.;
- Dehmel, Harald J.;
- Rodeck, Burkhard;
- Kunze, Jürgen;
- Tinschert, Sigrid;
- Mundlos, Stefan;
- Horn, Denise
Publication type:
Article
Meta and pooled analysis of European coeliac disease data.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 828, doi. 10.1038/sj.ejhg.5201051
By:
- Babron, Marie-Claude;
- Nilsson, Staffan;
- Adamovic, Svetlana;
- Naluai, Âsa Torinsson;
- Wahlström, Jan;
- Ascher, Henry;
- Ciclitira, Paul J.;
- Sollid, Ludvig M.;
- Partanen, Jukka;
- Greco, Luigi;
- Clerget-Darpoux, Françoise
Publication type:
Article
Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 835, doi. 10.1038/sj.ejhg.5201052
By:
- Zeiger, Joanna S.;
- Hetmanski, Jacqueline B.;
- Beaty, Terri H.;
- VanderKolk, Craig A.;
- Wyszynski, Diego F.;
- Bailey-Wilson, Joan E.;
- de Luna, Rosa Ortiz;
- Perandones, Claudia;
- Tolarova, Marie M.;
- Mosby, Terezie;
- Bennun, Ricardo;
- Segovia, Mabel;
- Calda, Pavel;
- Pugh, Elizabeth W.;
- Doheny, Kim;
- McIntosh, Iain
Publication type:
Article
Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 845, doi. 10.1038/sj.ejhg.5201053
By:
- Beekman, Marian;
- Heijmans, Bastiaan T.;
- Martin, Nicholas G.;
- Whitfield, John B.;
- Pedersen, Nancy L.;
- DeFaire, Ulf;
- Snieder, Harold;
- Lakenberg, Nico;
- Suchiman, H. Eka D.;
- de Knijff, Peter;
- Frants, Rune R.;
- van Ommen, Gert Jan B;
- Kluft, Cornelis;
- Vogler, George P.;
- Boomsma, Dorret I.;
- Slagboom, P. Eline
Publication type:
Article
Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 872, doi. 10.1038/sj.ejhg.5201055
By:
- Costa, Maria do Carmo;
- Magalhães, Paula;
- Ferreirinha, Fátima;
- Guimarães, Laura;
- Januário, Cristina;
- Gaspar, Isabel;
- Loureiro, Leal;
- Vale, José;
- Garrett, Carolina;
- Regateiro, Fernando;
- Magalhães, Marina;
- Sousa, Alda;
- Maciel, Patrícia;
- Sequeiros, Jorge
Publication type:
Article
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 896, doi. 10.1038/sj.ejhg.5201056
By:
- Crimi, Marco;
- Del Bo, Roberto;
- Galbiati, Sara;
- Sciacco, Monica;
- Bordoni, Andreina;
- Bresolin, Nereo;
- Comi, Giacomo Pietro
Publication type:
Article
Is the novel SCKL3 at 14q23 the predominant Seckel locus?
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 851, doi. 10.1038/sj.ejhg.5201057
By:
- Kilinç, Mehmet Okyay;
- Ninis, Vasiliki Ninidu;
- Ugur, Sibel Aylin;
- Tüysüz, Beyhan;
- Seven, Mehmet;
- Balci, Sevim;
- Goodship, Judith;
- Tolun, Aslihan
Publication type:
Article
No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 884, doi. 10.1038/sj.ejhg.5201058
By:
- de Jong, Dirk J.;
- Franke, Barbara;
- Naber, Anton H.J.;
- Willemen, Judith J.H.T.;
- Heister, Angelien J.G.A.M.;
- Brunner, Han G.;
- de Kovel, Carolien G.F.;
- Hol, Frans A.
Publication type:
Article
The deleted in colorectal carcinoma (DCC) gene 201 R ? G polymorphism: no evidence for genetic association with autoimmune disease.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 840, doi. 10.1038/sj.ejhg.5201059
By:
- Hall, Richard J.;
- Merriman, Marilyn E.;
- Green, Rachel A.;
- Markham, Valerie H.;
- Smyth, Deborah J.;
- Heward, Joanne M.;
- Jennings, Claire E.;
- Braithwaite, Antony W.;
- Cundy, Tim;
- Darlow, Brian A.;
- Gow, Peter J.;
- Harrison, Andrew A.;
- Highton, John;
- Hunt, Penny J.;
- Manning, Patrick;
- Pokorny, Violetta;
- Scott, Russell S.;
- Taylor, Barry J.;
- Willis, Jinny A.;
- Yeoman, Sue
Publication type:
Article
A missense mutation in PAX9 in a family with distinct phenotype of oligodontia.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 866, doi. 10.1038/sj.ejhg.5201060
By:
- Lammi, Laura;
- Halonen, Katri;
- Pirinen, Sinikka;
- Thesleff, Irma;
- Arte, Sirpa;
- Nieminen, Pekka
Publication type:
Article
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 888, doi. 10.1038/sj.ejhg.5201061
By:
- Laitinen, Päivi J.;
- Swan, Heikki;
- Kontula, Kimmo
Publication type:
Article
Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 892, doi. 10.1038/sj.ejhg.5201062
By:
- Garcia-Miñaur, Sixto;
- Mavrogiannis, Lampros A.;
- Rannan-Eliya, Sahan V.;
- Hendry, Michael A.;
- Liston, William A.;
- Porteous, Mary E.M.;
- Wilkie, Andrew O.M.
Publication type:
Article
Karyotyping of human synaptonemal complexes by cenM-FISH.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 11, p. 879, doi. 10.1038/sj.ejhg.5201067
By:
- Oliver-Bonet, Maria;
- Liehr, Thomas;
- Nietzel, Angela;
- Heller, Anita;
- Starke, Heike;
- Claussen, Uwe;
- Codina-Pascual, Montserrat;
- Pujol, Aïda;
- Abad, Carlos;
- Egozcue, Josep;
- Navarro, Joaquima;
- Benet, Jordi
Publication type:
Article