Works matching IS 10184813 AND DT 2011 AND VI 19 AND IP 1

Results: 25

Experiences with array-based sequence capture; toward clinical applications.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 50, doi. 10.1038/ejhg.2010.145

By:

Almomani, Rowida;
van der Heijden, Jaap;
Ariyurek, Yavuz;
Lai, Yuching;
Bakker, Egbert;
van Galen, Michiel;
Breuning, Martijn H.;
den Dunnen, Johan T.

Publication type:

Article

Genetic diversity on the Comoros Islands shows early seafaring as major determinant of human biocultural evolution in the Western Indian Ocean.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 89, doi. 10.1038/ejhg.2010.128

By:

Msaidie, Said;
Ducourneau, Axel;
Boetsch, Gilles;
Longepied, Guy;
Papa, Kassim;
Allibert, Claude;
Yahaya, Ali Ahmed;
Chiaroni, Jacques;
Mitchell, Michael J

Publication type:

Article

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 56, doi. 10.1038/ejhg.2010.134

By:

Betsalel, Ofir T.;
Rosenberg, Efraim H.;
Almeida, Ligia S.;
Kleefstra, Tjitske;
Schwartz, Charles E.;
Valayannopoulos, Vassili;
Abdul-Rahman, Omar;
Poplawski, Nicola;
Vilarinho, Laura;
Wolf, Philipp;
den Dunnen, Johan T.;
Jakobs, Cornelis;
Salomons, Gajja S.

Publication type:

Article

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 36, doi. 10.1038/ejhg.2010.137

By:

René, Céline;
Paulet, Damien;
Girodon, Emmanuelle;
Costa, Catherine;
Lalau, Guy;
Leclerc, Julie;
Cabet-Bey, Faïza;
Bienvenu, Thierry;
Blayau, Martine;
Iron, Albert;
Mittre, Hervé;
Feldmann, Delphine;
Guittard, Caroline;
Claustres, Mireille;
Georges, Marie des

Publication type:

Article

Clinical utility gene card for: Holoprosencephaly.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.110

By:

Dubourg, Christèle;
David, Véronique;
Gropman, Andrea;
Mercier, Sandra;
Muenke, Maximilian;
Odent, Sylvie;
Pineda-Alvarez, Daniel E;
Roessler, Erich

Publication type:

Article

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142

By:

Brunetti-Pierri, Nicola;
Paciorkowski, Alex R.;
Ciccone, Roberto;
Mina, Erika Della;
Bonaglia, Maria Clara;
Borgatti, Renato;
Schaaf, Christian P;
Sutton, V. Reid;
Xia, Zhilian;
Jelluma, Naftha;
Ruivenkamp, Claudia;
Bertrand, Mary;
de Ravel, Thomy J. L.;
Jayakar, Parul;
Belli, Serena;
Rocchetti, Katia;
Pantaleoni, Chiara;
D'Arrigo, Stefano;
Hughes, Jeff;
Sau Wai Cheung

Publication type:

Article

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 115, doi. 10.1038/ejhg.2010.132

By:

Kahrizi, Kimia;
Hu, Cougar Hao;
Garshasbi, Masoud;
Abedini, Seyedeh Sedigheh;
Ghadami, Shirin;
Kariminejad, Roxana;
Ullmann, Reinhard;
Chen, Wei;
Ropers, H-Hilger;
Kuss, Andreas W;
Najmabadi, Hossein;
Tzschach, Andreas

Publication type:

Article

Visual arts and genetics: lessons from the past.

Published in:

2011

By:

Marziliano, Nicola

Publication type:

Book Review

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 18, doi. 10.1038/ejhg.2010.136

By:

Banka, Siddharth;
Chervinsky, Elena;
Newman, William G;
Crow, Yanick J.;
Yeganeh, Shay;
Yacobovich, Joanne;
Donnai, Dian;
Shalev, Stavit

Publication type:

Article

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 64, doi. 10.1038/ejhg.2010.143

By:

Zhi-Qiang Wang;
Ning Wang;
van der Maarel, Silvere;
Shen-Xing Murong;
Zhi-Ying Wu

Publication type:

Article

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 10, doi. 10.1038/ejhg.2010.135

By:

Hawkins, Malcolm;
Boyle, Jennifer;
Wright, Kathleen E,;
Elles, Rob;
Ramsden, Simon C,;
O'Grady, Anna;
Sweeney, Michael;
Barton, David E,;
Burgess, Trent;
Moore, Melanie;
Burns, Chris;
Stacey, Glyn;
Gray, Elaine;
Metcalfe, Paul;
Hawkins, J. Ross

Publication type:

Article

Cervix smear abnormalities: linking pathology data in female twins, their mothers and sisters.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 108, doi. 10.1038/ejhg.2010.139

By:

Vink, Jacqueline M.;
van Kemenade, Folkert J.;
Meijer, Chris J. L. M.;
Casparie, Mariel K.;
Meijer, Gerrit A.;
Boomsma, Dorret I.

Publication type:

Article

Rubinstein-Taybi syndrome (CREBBP, EP300).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.124

By:

van Belzen, Martine;
Bartsch, Oliver;
Lacombe, Didier;
Peters, Dorien J. M.;
Hennekam, Raoul C. M.

Publication type:

Article

Mutation rate estimates for 110 Y-chromosome STRs combining population and father-son pair data.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 70, doi. 10.1038/ejhg.2010.154

By:

Burgarella, Concetta;
Navascués, Miguel

Publication type:

Article

A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 84, doi. 10.1038/ejhg.2010.141

By:

Sikora, Martin;
Laayouni, Hafid;
Calafell, Francesc;
Comas, David;
Bertranpetit, Jaume

Publication type:

Article

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

Published in:

2011

By:

Tsai, Anne Chun-Hui;
Dossett, Cherilyn J.;
Walton, Carol S.;
Cramer, Andrea E.;
Eng, Patti A.;
Nowakowska, Beata A.;
Pursley, Amber N.;
Stankiewicz, Pawel;
Wiszniewska, Joanna;
Sau Wai Cheung

Publication type:

Case Study

A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 95, doi. 10.1038/ejhg.2010.146

By:

Myres, Natalie M.;
Rootsi, Siiri;
Lin, Alice A;
Järve, Mari;
King, Roy J.;
Kutuev, Ildus;
Cabrera, Vicente M.;
Khusnutdinova, Elza K.;
Pshenichnov, Andrey;
Yunusbayev, Bayazit;
Balanovsky, Oleg;
Balanovska, Elena;
Rudan, Pavao;
Baldovic, Marian;
Herrera, Rene J.;
Chiaroni, Jacques;
Di Cristofaro, Julie;
Villems, Richard;
Kivisild, Toomas;
Underhill, Peter A

Publication type:

Article

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 76, doi. 10.1038/ejhg.2010.120

By:

Smith, Ryan M.;
Alachkar, Houda;
Papp, Audrey C.;
Wang, Danxin;
Mash, Deborah C.;
Wang, Jen-Chyong;
Bierut, Laura J.;
Sadee, Wolfgang

Publication type:

Article

Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 3, doi. 10.1038/ejhg.2010.138

By:

Gekas, Jean;
van den Berg, David-Gradus;
Durand, Audrey;
Vallée, Maud;
Wildschut, Hajo Izaäk Johannes;
Bujold, Emmanuel;
Forest, Jean-Claude;
Rousseau, François;
Reinharz, Daniel

Publication type:

Article

Clinical utility gene card for: Lesch-Nyhan syndrome.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.109

By:

Torres, Rosa J.;
Puig, Juan G.;
Ceballos-Picot, Irène

Publication type:

Article

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 23, doi. 10.1038/ejhg.2010.151

By:

Shahid, Mohammad;
Dhillon, Varinderpal S;
Khalil, Hesham Saleh;
Sexana, Anubha;
Husain, Syed Akhtar

Publication type:

Article

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 1, doi. 10.1038/ejhg.2010.149

By:

Klitten, Laura L.;
Møller, Rikke S.;
Ravn, Kirstine;
Hjalgrim, Helle;
Tommerup, Niels

Publication type:

Article

Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 118, doi. 10.1038/ejhg.2010.133

By:

Zeegers, Maurice P.;
Khan, Humera S.;
Schouten, Leo J.;
van Dijk, Boukje A. C.;
Goldbohm, R. Alexandra;
Schalken, Jack;
Shajahan, Shahin;
Pearlman, Alexander;
Oddoux, Carole;
van den Brandt, Piet A.;
Ostrer, Harry

Publication type:

Article

Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 1, p. 30, doi. 10.1038/ejhg.2010.140

By:

Västinsalo, Hanna;
Jalkanen, Reetta;
Dinculescu, Astra;
Isosomppi, Juha;
Geller, Scott;
Flannery, John G.;
Hauswirth, William W.;
Sankila, Eeva-Marja

Publication type:

Article

Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

Published in:

2011

By:

Al-Qattan, Mohammad M.

Publication type:

Case Study