Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 9

Results: 30

Sporadic cases are the norm for complex disease.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1039, doi. 10.1038/ejhg.2009.177

By:

Jian Yang;
Visscher, Peter M.;
Wray, Naomi R.

Publication type:

Article

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2009.227

By:

Mayer, Karin;
Kennerknecht, Ingo;
Steinmann, Beat

Publication type:

Article

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2009.232

By:

Rahner, Nils;
Steinke, Verena;
Schlegelberger, Brigitte;
Olschwang, Sylviane;
Eisinger, François;
Hutter, Pierre

Publication type:

Article

Corrigendum to: Sporadic cases are the norm for complex disease.

Published in:

2010

By:

Yang, Jian;
Visscher, Peter M;
Wray, Naomi R

Publication type:

Correction Notice

Clinical utility gene card for: Haemochromatosis [HFE].

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2009.245

By:

Stuhrmann, Manfred;
Gabriel, Heinz;
Keeney, Stephen

Publication type:

Article

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].

Published in:

2010

By:

Arslan-Kirchner, Mine;
Arbustini, Eloisa;
Boileau, Catherine;
Child, Anne;
Collod-Beroud, Gwenaelle;
De Paepe, Anne;
Epplen, Jörg;
Jondeau, Guillaume;
Loeys, Bart;
Faivre, Laurence

Publication type:

Correction Notice

Therapeutic exon skipping for dysferlinopathies?

Published in:

2010

By:

Aartsma-Rus, Annemieke;
Singh, Kavita HK;
Fokkema, Ivo FAC;
Ginjaar, Ieke B;
van Ommen, Gert-Jan;
den Dunnen, Johan T;
van der Maarel, Silvère M

Publication type:

Correction Notice

Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1061, doi. 10.1038/ejhg.2010.50

By:

Ching-Chyuan Su;
Shuan-Yow Li;
Mao-Chang Su;
Wei-Chi Chen;
Jiann-Jou Yang

Publication type:

Article

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 978, doi. 10.1038/ejhg.2010.54

By:

Zhu Sheng-Yuan;
Fu Xiong;
Ya-Jun Chen;
Ti-Zhen Yan;
Jian Zeng;
Liang Li;
Ya-Ni Zhang;
Wan-Qun Chen;
Xin-Hua Bao;
Cheng Zhang;
Xiang-Min Xu

Publication type:

Article

Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1021, doi. 10.1038/ejhg.2010.55

By:

Newby, Paul R.;
Pickles, Oliver J.;
Mazumdar, Samaresh;
Brand, Oliver J.;
Carr-Smith, Jaqueline D.;
Pearce, Simon H. S.;
Franklyn, Jayne A.;
Evans, David M.;
Simmonds, Matthew J.;
Gough, Stephen C. L.

Publication type:

Article

Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1027, doi. 10.1038/ejhg.2010.56

By:

Morris, David L.;
Roberts, Amy L.;
Witherden, Abigail S.;
Tarzi, Ruth;
Barros, Paula;
Whittaker, John C.;
Cook, Terence H.;
Aitman, Timothy J.;
Vyse, Timothy J.

Publication type:

Article

The power of the Transmission Disequilibrium Test in the presence of population stratification.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1032, doi. 10.1038/ejhg.2010.57

By:

Sebro, Ronnie;
Rogus, John J.

Publication type:

Article

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.5

By:

Schwinger, Eberhard;
Devriendt, Koen;
Rauch, Anita;
Philip, Nicole

Publication type:

Article

Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 985, doi. 10.1038/ejhg.2010.61

By:

Diekmann, Simone;
Henneke, Marco;
Burckhardt, Birgitta C.;
Gärtner, Jutta

Publication type:

Article

Genome-wide gene and pathway analysis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1045, doi. 10.1038/ejhg.2010.62

By:

Li Luo;
Gang Peng;
Yun Zhu;
Hua Dong;
Amos, Christopher I.;
Momiao Xiong

Publication type:

Article

DNA methylation profiling of human placentas reveals promoter hypomethylation of multiple genes in early-onset preeclampsia.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1006, doi. 10.1038/ejhg.2010.63

By:

Yuen, Ryan K. C.;
Peñaherrera, Maria S.;
von Dadelszen, Peter;
McFadden, Deborah E.;
Robinson, Wendy P.

Publication type:

Article

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 972, doi. 10.1038/ejhg.2010.64

By:

Skirton, Heather;
Lewis, Celine;
Kent, Alastair;
Coviello, Domenico A.

Publication type:

Article

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a.

Published in:

2010

By:

Underhill, Peter A;
Myres, Natalie M;
Rootsi, Siiri;
Metspalu, Mait;
Zhivotovsky, Lev A;
King, Roy J;
Lin, Alice A;
Chow, Cheryl-Emiliane T;
Semino, Ornella;
Battaglia, Vincenza;
Kutuev, Ildus;
Järve, Mari;
Chaubey, Gyaneshwer;
Ayub, Qasim;
Mohyuddin, Aisha;
Mehdi, S Qasim;
Sengupta, Sanghamitra;
Rogaev, Evgeny I;
Khusnutdinova, Elza K;
Pshenichnov, Andrey

Publication type:

Correction Notice

Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 993, doi. 10.1038/ejhg.2010.67

By:

Sinnema, Margje;
van Roozendaal, Kees E. P.;
Maaskant, Marian A.;
Smeets, Hubert J. M.;
Engelen, John J. M.;
Jonker-Houben, Nieke;
Schrander-Stumpel, Constance T. R. M.;
Curfs, Leopold M. G.

Publication type:

Article

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1065, doi. 10.1038/ejhg.2010.68

By:

Schlipf, Nina A.;
Beetz, Christian;
Schüle, Rebecca;
Stevanin, Giovanni;
Erichsen, Anne Kjersti;
Forlani, Sylvie;
Zaros, Cécile;
Karle, Kathrin;
Klebe, Stephan;
Klimpe, Sven;
Durr, Alexandra;
Otto, Susanne;
Tallaksen, Chantal M. E.;
Riess, Olaf;
Brice, Alexis;
Bauer, Peter;
Schöls, Ludger

Publication type:

Article

Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.75

By:

Aretz, Stefan;
Rautenstrauß, Bernd;
Timmerman, Vincent

Publication type:

Article

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70

By:

Paulussen, Aimée D. C.;
Schrander-Stumpel, Constance T.;
Tserpelis, Demis C. J.;
Spee, Matteus K. M.;
Stegmann, Alexander P. A.;
Mancini, Grazia M.;
Brooks, Alice S.;
Collée, Margriet;
Maat-Kievit, Anneke;
Simon, Marleen E. H.;
van Bever, Yolande;
Stolte-Dijkstra, Irene;
Kerstjens-Frederikse, Wilhelmina S.;
Herkert, Johanna C.;
van Essen, Anthonie J.;
Lichtenbelt, Klaske D.;
van Haeringen, Arie;
Kwee, Mei L.;
Lachmeijer, Augusta M. A.;
Tan-Sindhunata, Gita M. B.

Publication type:

Article

The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1054, doi. 10.1038/ejhg.2010.71

By:

Berulava, Tea;
Horsthemke, Bernhard

Publication type:

Article

Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington's disease.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1057, doi. 10.1038/ejhg.2010.72

By:

Mochel, Fanny;
Duteil, Sandrine;
Marelli, Cécilia;
Jauffret, Céline;
Barles, Agnès;
Holm, Janette;
Sweetman, Lawrence;
Benoist, Jean-François;
Rabier, Daniel;
Carlier, Pierre G.;
Durr, Alexandra

Publication type:

Article

Therapeutic exon ‘switching’ for dysferlinopathies?

Published in:

2010

By:

Lévy, Nicolas;
Wein, Nicolas;
Barthelemy, Florian;
Mouly, Vincent;
Garcia, Luis;
Krahn, Martin;
Bartoli, Marc

Publication type:

Letter

Linkage and candidate gene studies of autism spectrum disorders in European populations.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1013, doi. 10.1038/ejhg.2010.69

By:

Holt, Richard;
Barnby, Gabrielle;
Maestrini, Elena;
Bacchelli, Elena;
Brocklebank, Denise;
Sousa, Inês;
Mulder, Erik J.;
Kantojärvi, Katri;
Järvelä, Irma;
Klauck, Sabine M.;
Poustka, Fritz;
Bailey, Anthony J.;
Monaco, Anthony P.

Publication type:

Article

Reply to Lévy et al.

Published in:

2010

By:

Aartsma-Rus, Annemieke;
van der Maarel, Silvère

Publication type:

Letter

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.77

By:

Aretz, Stefan;
Hes, Frederik J.

Publication type:

Article

The EuroGentest Clinical Utility Gene Cards.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. -1, doi. 10.1038/ejhg.2010.85

By:

Schmidtke, Jörg;
Cassiman, Jean-Jacques

Publication type:

Article

Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations.

Published in:

2010

By:

Holt, Richard;
Barnby, Gabrielle;
Maestrini, Elena;
Bacchelli, Elena;
Brocklebank, Denise;
Sousa, Inês;
Mulder, Erik J;
Kantojärvi, Katri;
Järvelä, Irma;
Klauck, Sabine M;
Poustka, Fritz;
Bailey, Anthony J;
Monaco, Anthony P

Publication type:

Correction Notice