Works matching IS 10184813 AND DT 2001 AND VI 9 AND IP 6

Results: 12

Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 445, doi. 10.1038/sj.ejhg.5200643

By:

Pozzato, Gabriele;
Zorat, Francesca;
Nascimben, Fabiana;
Gregorutti, Michela;
Comar, Consuelo;
Baracetti, Stefano;
Vatta, Serena;
Bevilacqua, Elena;
Belgrano, Anna;
Crovella, Sergio;
Amoroso, Antonio

Publication type:

Article

BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 424, doi. 10.1038/sj.ejhg.5200652

By:

Sarantaus, Laura;
Vahteristo, Pia;
Bloom, Elizabeth;
Tamminen, Anitta;
Unkila-Kallio, Leila;
Butzow, Ralf;
Nevanlinna, Heli

Publication type:

Article

Use of haplotype information to test involvement of the LRP gene in Alzheimer's disease in the French population.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 464, doi. 10.1038/sj.ejhg.5200644

By:

Verpillat, Patrice;
Bouley, Sandrine;
Campion, Dominique;
Hannequin, Didier;
Dubois, Bruno;
Belliard, Serge;
Puel, Michèle;
Thomas-Antérion, Catherine;
Agid, Yves;
Brice, Alexis;
Clerget-Darpoux, Françoise

Publication type:

Article

Genetic association studies of schizophrenia using the 8p21-22 genes: prepronociceptin (PNOC), neuronal nicotinic cholinergic receptor alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 (NAT1).

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 469, doi. 10.1038/sj.ejhg.5200646

By:

Blaveri, Ekaterini;
Kalsi, Gursharan;
Lawrence, Jacob;
Quested, Digby;
Moorey, Helen;
Lamb, Graham;
Kohen, Dora;
Shiwach, Raj;
Chowdhury, Utom;
Curtis, David;
McQuillin, Andrew;
Gramoustianou, Eva S;
Gurling, Hugh MD

Publication type:

Article

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 409, doi. 10.1038/sj.ejhg.5200649

By:

Gaston, Véronique;
Le Bouc, Yves;
Soupre, Véronique;
Burglen, Lydie;
Donadieu, Jeam;
Oro, Hubert;
Audry, Georges;
Vazquez, Marie-Paule;
Gicquel, Christine

Publication type:

Article

Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 419, doi. 10.1038/sj.ejhg.5200650

By:

Julies, Monique G;
Moore, Sam W;
Kotze, Maritha J;
du Plessis, Lana

Publication type:

Article

Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 437, doi. 10.1038/sj.ejhg.5200651

By:

Prince, Jonathan A;
Feuk, Lars;
Sawyer, Sarah L;
Gottfries, Johan;
Ricksten, Anne;
Nägga, Katarina;
Bogdanovic, Nenad;
Blennow, Kaj;
Brookes, Anthony J

Publication type:

Article

Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 452, doi. 10.1038/sj.ejhg.5200645

By:

Kitsos, George;
Eiberg, Hans;
Economou-Petersen, Effrosini;
Wirtz, Mary K;
Kramer, Patricia L;
Aspiotis, Miltiadis;
Tommerup, Niels;
Petersen, Michael B;
Psilas, Konstantinos

Publication type:

Article

Linkage analysis in multiple sclerosis of chromosomal regions syntenic to experimental autoimmune disease loci.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 458, doi. 10.1038/sj.ejhg.5200653

By:

Xu, Chun;
Dai, Yamei;
Lorentzen, Johnny C;
Dahlman, Ingrid;
Olsson, Tomas;
Hillert, Jan

Publication type:

Article

Meiotic segregation analysis in a t(4;8) carrier: comparison of FISH methods on sperm chromosome metaphases and interphase sperm nuclei.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 395, doi. 10.1038/sj.ejhg.5200654

By:

Oliver-Bonet, Maria;
Navarro, Joaquima;
Codina-Pascual, Montserrat;
Carrera, Marta;
Egozcue, Josep;
Benet, Jordi

Publication type:

Article

Evaluation of first trimester maternal serum and ultrasound screening for Down's syndrome in Eastern and Northern Finland.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 404, doi. 10.1038/sj.ejhg.5200655

By:

Niemimaa, Marko;
Suonpää, Mikko;
Perheentupa, Antti;
Seppälä, Maija;
Heinonen, Seppo;
Laitinen, Päivi;
Ruokonen, Aimo;
Ryynänen, Markku

Publication type:

Article

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 6, p. 431, doi. 10.1038/sj.ejhg.5200656

By:

Lund, Annastiina;
Udd, Bjarne;
Juvonen, Vesa;
Andersen, Peter M;
Cederquist, Kristina;
Davis, Mark;
Gellera, Cinzia;
Kölmel, Christina;
Ronnevi, Lars-Olof;
Sperfeld, Anne-Dorte;
Sörensen, Sven- Asger;
Tranebjaerg, Lisbeth;
Van Maldergem, Lionel;
Watanabe, Mitsunori;
Weber, Markus;
Yeung, Leone;
Savontaus, Marja-Liisa

Publication type:

Article