Works matching IS 10184813 AND DT 2008 AND VI 16 AND IP 7

Results: 16

The Tunisian population history through the Crigler–Najjar type I syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 848, doi. 10.1038/sj.ejhg.5201989

By:

Petit, François M;
Bézieau, Stéphane;
Gajdos, Vincent;
Parisot, Frédéric;
Scoul, Catherine;
Capel, Liliane;
Stozinic, Volodia;
Khrouf, Naïma;
M'Rad, Ridha;
Koshy, Abraham;
Mollet-Boudjemline, Alix;
Francoual, Jeanne;
Labrune, Philippe

Publication type:

Article

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 820, doi. 10.1038/ejhg.2008.13

By:

Tischkowitz, Marc;
Hamel, Nancy;
Carvalho, Marcelo A.;
Birrane, Gabriel;
Soni, Aditi;
van Beers, Erik H.;
Joosse, Simon A.;
Wong, Nora;
Novak, David;
Quenneville, Louise A.;
Grist, Scott A.;
Nederlof, Petra M.;
Goldgar, David E.;
Tavtigian, Sean V.;
Monteiro, Alvaro N.;
Ladias, John A. A.;
Foulkes, William D.

Publication type:

Article

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 786, doi. 10.1038/ejhg.2008.14

By:

Zhong-Fa Zhang;
Ruivenkamp, Claudia;
Staaf, Johan;
Zhu, Hongbo;
Barbaro, Michela;
Petillo, David;
Khoo, Sok Kean;
Borg, Åke;
Yao-Shan Fan;
Schoumans, Jacqueline

Publication type:

Article

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 865, doi. 10.1038/ejhg.2008.15

By:

Leroy, Chrystel;
Fouveaut, Corinne;
Leclercq, Sandrine;
Jacquemont, Sébastien;
Boullay, Hélène Du;
Lespinasse, James;
Delpech, Marc;
Dupont, Jean-Michel;
Hardelin, Jean-Pierre;
Dodé, Catherine

Publication type:

Article

IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 861, doi. 10.1038/ejhg.2008.16

By:

Martínez, Alfonso;
Santiago, José Luis;
Cénit, M Carmen;
de las Heras, Virginia;
de la Calle, Hermenegildo;
Fernández-Arquero, Miguel;
Arroyo, Rafael;
de la Concha, Emilio G.;
Urcelay, Elena

Publication type:

Article

Mapping of a Hirschsprung's disease locus in 3p21.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 833, doi. 10.1038/ejhg.2008.18

By:

Garcia-Barceló, Maria-Mercè;
Pui-yee Fong;
Tang, Clara S.;
Xiao-ping Miao;
Man-ting So;
Zhen-wei Yuan;
Li, Long;
Wei-hong Guo;
Lei Liu;
Bin Wang;
Xiao-bing Sun;
Liu-ming Huang;
Jin-fa Tou;
Kak-yuen Wong, Kenneth;
Elly Sau-wai Ngan;
Vincent Chi-hang Lui;
Cherny, Stacey S.;
Pak-chung Sham;
Paul Kwong-hang Tam

Publication type:

Article

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 812, doi. 10.1038/ejhg.2008.23

By:

Kitiratschky, Veronique B. D.;
Grau, Tanja;
Bernd, Antje;
Zrenner, Eberhart;
Jägle, Herbert;
Renner, Agnes B.;
Kellner, Ulrich;
Rudolph, Günther;
Jacobson, Samuel G.;
Cideciyan, Artur V.;
Schaich, Simone;
Kohl, Susanne;
Wissinger, Bernd

Publication type:

Article

Conservation of 5′-upstream region of the FBN1 gene in primates.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 869, doi. 10.1038/ejhg.2008.51

By:

Singh, Krishna Kumar;
Shukla, Praphulla Chandra;
Schmidtke, Joerg

Publication type:

Article

The human pseudoautosomal regions: a review for genetic epidemiologists.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 771, doi. 10.1038/ejhg.2008.63

By:

Flaquer, Antonia;
Rappold, Gudrun A.;
Wienker, Thomas F.;
Fischer, Christine

Publication type:

Article

Maternal genotype effects can alias case genotype effects in case–control studies.

Published in:

2008

By:

Buyske, Steven

Publication type:

Letter

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 841, doi. 10.1038/ejhg.2008.20

By:

Craig, Kate;
Takiyama, Yoshihisa;
Bing-Wen Soong;
Jardim, Laura B.;
Saraiva-Pereira, Maria Luiza;
Lythgow, Kieren;
Morino, Hiroyuki;
Maruyama, Hirofumi;
Kawakami, Hideshi;
Chinnery, Patrick F.

Publication type:

Article

An approach for cutting large and complex pedigrees for linkage analysis.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 854, doi. 10.1038/ejhg.2008.24

By:

Liu, Fan;
Kirichenko, Anatoliy;
Axenovich, Tatiana I.;
van Duijn, Cornelia M.;
Aulchenko, Yurii S.

Publication type:

Article

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 804, doi. 10.1038/ejhg.2008.25

By:

Morak, Monika;
Schackert, Hans Konrad;
Rahner, Nils;
Betz, Beate;
Ebert, Matthias;
Walldorf, Constanze;
Royer-Pokora, Brigitte;
Schulmann, Karsten;
von Knebel-Doeberitz, Magnus;
Dietmaier, Wolfgang;
Keller, Gisela;
Kerker, Brigitte;
Leitner, Gertraud;
Holinski-Feder, Elke

Publication type:

Article

Establishment of a biobank and pharmacogenetics database of African populations.

Published in:

2008

By:

Matimba, Alice;
Oluka, Margaret N.;
Ebeshi, Benjamin U.;
Sayi, Jane;
Bolaji, Oluseye O.;
Guantai, Anastasia N.;
Masimirembwa, Collen M.

Publication type:

Letter

Feedback Control: The role of negative feedback in signal transduction control.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 769, doi. 10.1038/ejhg.2008.56

By:

Heldin, Carl-Henrik;
Lennartsson, Johan;
Hellberg, Carina

Publication type:

Article

Revised spectrum of mutations in sarcoglycanopathies.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 7, p. 793, doi. 10.1038/ejhg.2008.9

By:

Trabelsi, Madiha;
Kavian, Niloufar;
Daoud, Fatma;
Commere, Virginie;
Deburgrave, Nathalie;
Beugnet, Caroline;
Llense, Stephane;
Barbot, Jean Claude;
Vasson, Aurélie;
Kaplan, Jean Claude;
Leturcq, France;
Chelly, Jamel

Publication type:

Article