Works matching IS 10184813 AND DT 2004 AND VI 12 AND IP 2

Results: 13

Prevalence of lysosomal storage diseases in Portugal.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 87, doi. 10.1038/sj.ejhg.5201044

By:

Pinto, Rui;
Caseiro, Carla;
Lemos, Manuela;
Lopes, Lurdes;
Fontes, Augusta;
Ribeiro, Helena;
Pinto, Eugénia;
Silva, Elisabete;
Rocha, Sónia;
Marcão, Ana;
Ribeiro, Isaura;
Lacerda, Lúcia;
Ribeiro, Gil;
Amaral, Olga;
Miranda, M.C. Sá

Publication type:

Article

Ancient mtDNA analysis and the origin of the Guanches.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 155, doi. 10.1038/sj.ejhg.5201075

By:

Maca-Meyer, Nicole;
Arnay, Matilde;
Rando, Juan Carlos;
Flores, Carlos;
González, Ana M.;
Cabrera, Vicente M.;
Larruga, José M.

Publication type:

Article

Mutations responsible for 3-phosphoserine phosphatase deficiency.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 163, doi. 10.1038/sj.ejhg.5201083

By:

Veiga-da-Cunha, Maria;
Collet, Jean-François;
Prieur, Benoît;
Jaeken, Jaak;
Peeraer, Yves;
Rabbijns, Anja;
Van Schaftingen, Emile

Publication type:

Article

Interleukin-1 gene cluster polymorphisms and susceptibility to clinical malaria in a Gambian case-control study.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 132, doi. 10.1038/sj.ejhg.5201084

By:

Walley, Andrew J.;
Aucan, Christophe;
Kwiatkowski, Dominic;
Hill, Adrian V.S.

Publication type:

Article

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 115, doi. 10.1038/sj.ejhg.5201090

By:

Gootjes, Jeannette;
Schmohl, Frank;
Waterham, Hans R.;
Wanders, Ronald J.A.

Publication type:

Article

Genome-wide scanning for linkage in Finnish breast cancer families.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 98, doi. 10.1038/sj.ejhg.5201091

By:

Huusko, Pia;
Suh-Hang Hank Juo;
Gillanders, Elizabeth;
Sarantaus, Laura;
Kainu, Tommi;
Vahteristo, Pia;
Allinen, Minna;
Jones, MaryPat;
Rapakko, Katrin;
Eorela, Hannaleena;
Markey, Carol;
Vehmanen, Paula;
Gildea, Derek;
Freas-Lutz, Diane;
Blomqvist, Carl;
Leisti, Jaakko;
Blanco, Guillermo;
Puistola, Ulla;
Trent, Jeffrey

Publication type:

Article

Characterisation of the dysferlin skeletal muscle promoter.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 127, doi. 10.1038/sj.ejhg.5201092

By:

Foxton, R.M.;
Laval, S.H.;
Bushby, K.M.D.

Publication type:

Article

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 121, doi. 10.1038/sj.ejhg.5201094

By:

Kaiser, Frank J.;
Brega, Paola;
Raff, Michael L.;
Byers, Peter H.;
Gallati, Sabina;
Kay, Teresa Taylor;
de Almeida, Salomé;
Horsthemke, Bernhard;
Lüdecke, Hermann-Josef

Publication type:

Article

Familial Mediterranean fever seems to be not uncommon in Greece.

Published in:

2004

By:

Konstantopoulos, Kostas;
Kanta, Alexandra

Publication type:

Letter

In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 139, doi. 10.1038/sj.ejhg.5201098

By:

Kaufmann, Dieter;
Kenner, Oliver;
Nurnberg, Peter;
Vogel, Walther;
Bartelt, Britta

Publication type:

Article

Transmission disequilibrium test (TDT) for case-control studies.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 105, doi. 10.1038/sj.ejhg.5201099

By:

Ruiz-Narváez, Edward A.;
Campos, Hannia

Publication type:

Article

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 150, doi. 10.1038/sj.ejhg.5201100

By:

Regis, Stefano;
Corsolini, Fabio;
Ricci, Verena;
Di Duca, Marco;
Filocamo, Mirella

Publication type:

Article

Confidentiality and serious harm in genetics - preserving the confidentiality of one patient and preventing harm to relatives.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 93, doi. 10.1038/sj.ejhg.5201118

By:

Lucassen, Anneke;
Parker, Michael

Publication type:

Article