Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 10

Results: 16

Tag SNP selection for candidate gene association studies using HapMap and gene resequencing data.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1063, doi. 10.1038/sj.ejhg.5201875

By:

Zongli Xu;
Kaplan, Norman L.;
Taylor, Jack A.

Publication type:

Article

Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection ?

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1071, doi. 10.1038/sj.ejhg.5201876

By:

Freudenberg, Jan;
Ying-Hui Fu;
Ptáček, Louis J.

Publication type:

Article

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.

Published in:

2007

By:

Romano, Corrado;
Knight, Samantha J. L.;
Martin, Christa Lese;
de Vries, Bert B. A.

Publication type:

Proceeding

Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1029, doi. 10.1038/sj.ejhg.5201881

By:

Martens, Kevin;
Heulens, Inge;
Meulemans, Sandra;
Zaffanello, Marco;
Tilstra, David;
Hes, Frederik J.;
Rooman, Raoul;
François, Inge;
de Zegher, Francis;
Jaeken, Jaak;
Matthijs, Gert;
Creemers, John W. M.

Publication type:

Article

Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1023, doi. 10.1038/sj.ejhg.5201882

By:

Tufan, A. Cevik;
Satiroglu-Tufan, N. Lale;
Jackson, Gail C.;
Semerci, C. Nur;
Solak, Savas;
Yagci, Baki

Publication type:

Article

Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1079, doi. 10.1038/sj.ejhg.5201828

By:

Puomila, Anu;
Hämäläinen, Petra;
Kivioja, Sanna;
Savontaus, Marja-Liisa;
Koivumäki, Satu;
Huoponen, Kirsi;
Nikoskelainen, Eeva

Publication type:

Article

Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1034, doi. 10.1038/sj.ejhg.5201871

By:

Nielsen, Maartje;
Bik, Elsa;
Hes, Frederik J.;
Breuning, Martijn H.;
Vasen, Hans F. A.;
Bakker, Egbert;
Tops, Carli M. J.;
Weiss, Marjan M.

Publication type:

Article

An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1012, doi. 10.1038/sj.ejhg.5201874

By:

Lewis, Celine;
Mehta, Pritti;
Kent, Alastair;
Skirton, Heather;
Coviello, Domenico

Publication type:

Article

Process and outcome in communication of genetic information within families: a systematic review.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 999, doi. 10.1038/sj.ejhg.5201883

By:

Gaff, Clara L.;
Clarke, Angus J.;
Atkinson, Paul;
Sivell, Stephanie;
Elwyn, Glyn;
Iredale, Rachel;
Thornton, Hazel;
Dundon, Joanna;
Shaw, Chris;
Edwards, Adrian

Publication type:

Article

Partial duplications of the ATRX gene cause the ATR-X syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1094, doi. 10.1038/sj.ejhg.5201878

By:

Thienpont, Bernard;
de Ravel, Thomy;
Van Esch, Hilde;
Van Schoubroeck, Dominique;
Moerman, Philippe;
Vermeesch, Joris Robert;
Fryns, Jean-Pierre;
Froyen, Guy;
Lacoste, Caroline;
Badens, Catherine;
Devriendt, Koen

Publication type:

Article

Polymorphism of XRCC1 predicts overall survival of gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1049, doi. 10.1038/sj.ejhg.5201884

By:

Liu, Baorui;
Jia Wei;
Zhengyun Zou;
Xiaoping Qian;
Nakamura, Takahiro;
Zhang, Wei;
Yitao Ding;
Jifeng Feng;
Lixia Yu

Publication type:

Article

Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1043, doi. 10.1038/sj.ejhg.5201879

By:

Majorczyk, Edyta;
Jasek, Monika;
Płoski, Rafał;
Wagner, Marta;
Kosior, Anna;
Pawlik, Andrzej;
Obojski, Andrzej;
Łuszczek, Wioleta;
Nowak, Izabela;
Wiśniewski, Andrzej;
Kuśnierczyk, Piotr

Publication type:

Article

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1054, doi. 10.1038/sj.ejhg.5201885

By:

Vezain, Myriam;
Saugier-Veber, Pascale;
Melki, Judith;
Toutain, Annick;
Bieth, Eric;
Husson, Marie;
Pedespan, Jean-Michel;
Viollet, Louis;
Pénisson-Besnier, Isabelle;
Fehrenbach, Séverine;
Bou, Jacqueline;
Frébourg, Thierry;
Tosi, Mario

Publication type:

Article

Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201886

By:

Alias, Laura;
Barceló, Maria J;
Gich, Ignasi;
Estapé, Marta;
Parra, Juan;
Amenedo, Maria;
Baiget, Montserrat;
Tizzano, Eduardo F.

Publication type:

Article

Patient Information: Patient information for genetic testing.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 995, doi. 10.1038/sj.ejhg.5201893

By:

Bennett, Catherine

Publication type:

Article

Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes' functions.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 10, p. 997, doi. 10.1038/sj.ejhg.5201894

By:

Parvari, Ruti;
Hershkovitz, Eli

Publication type:

Article