Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 4

Results: 24

Utilizing extended pedigree information for discovery and confirmation of copy number variable regions among Mexican Americans.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 404, doi. 10.1038/ejhg.2012.188

By:

Blackburn, August;
Göring, Harald HH;
Dean, Angela;
Carless, Melanie A;
Dyer, Thomas;
Kumar, Satish;
Fowler, Sharon;
Curran, Joanne E;
Almasy, Laura;
Mahaney, Michael;
Comuzzie, Anthony;
Duggirala, Ravindranath;
Blangero, John;
Lehman, Donna M

Publication type:

Article

Genetic perspectives on the origin of clicks in Bantu languages from southwestern Zambia.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 430, doi. 10.1038/ejhg.2012.192

By:

Barbieri, Chiara;
Butthof, Anne;
Bostoen, Koen;
Pakendorf, Brigitte

Publication type:

Article

Genetic heterogeneity in Finnish hereditary prostate cancer using ordered subset analysis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 437, doi. 10.1038/ejhg.2012.185

By:

Simpson, Claire L;
Cropp, Cheryl D;
Wahlfors, Tiina;
George, Asha;
Jones, MaryPat S;
Harper, Ursula;
Ponciano-Jackson, Damaris;
Tammela, Teuvo;
Schleutker, Johanna;
Bailey-Wilson, Joan E

Publication type:

Article

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 381, doi. 10.1038/ejhg.2012.195

By:

Poirier, Karine;
Saillour, Yoann;
Fourniol, Franck;
Francis, Fiona;
Souville, Isabelle;
Valence, Stéphanie;
Desguerre, Isabelle;
Marie Lepage, Jean;
Boddaert, Nathalie;
Line Jacquemont, Marine;
Beldjord, Cherif;
Chelly, Jamel;
Bahi-Buisson, Nadia

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, 2013, v. 21, n. 4, p. 478, doi. 10.1038/ejhg.2012.189

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

Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 415, doi. 10.1038/ejhg.2012.190

By:

Rębała, Krzysztof;
Martínez-Cruz, Begoña;
Tönjes, Anke;
Kovacs, Peter;
Stumvoll, Michael;
Lindner, Iris;
Büttner, Andreas;
Wichmann, H-Erich;
Siváková, Daniela;
Soták, Miroslav;
Quintana-Murci, Lluís;
Szczerkowska, Zofia;
Comas, David

Publication type:

Article

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 474, doi. 10.1038/ejhg.2012.171

By:

Sen, Partha;
Gerychova, Romana;
Janku, Petr;
Jezova, Marta;
Valaskova, Iveta;
Navarro, Colby;
Silva, Iris;
Langston, Claire;
Welty, Stephen;
Belmont, John;
Stankiewicz, Pawel

Publication type:

Article

WikiGWA: an open platform for collecting and using genome-wide association results.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 471, doi. 10.1038/ejhg.2012.187

By:

Huang, Jie;
Liu, Eric Y;
Welch, Ryan;
Willer, Cristen;
Hindorff, Lucia A;
Li, Yun

Publication type:

Article

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 391, doi. 10.1038/ejhg.2012.180

By:

Sobczyńska-Tomaszewska, Agnieszka;
Ołtarzewski, Mariusz;
Czerska, Kamila;
Wertheim-Tysarowska, Katarzyna;
Sands, Dorota;
Walkowiak, Jarosław;
Bal, Jerzy;
Mazurczak, Tadeusz

Publication type:

Article

The frequency of an IL-18-associated haplotype in Africans.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 465, doi. 10.1038/ejhg.2012.184

By:

Thompson, Simon R;
Humphries, Steve E;
Thomas, Mark G;
Ekong, Rosemary;
Tarekegn, Ayele;
Bekele, Endeshaw;
Creemer, Olivia;
Bradman, Neil;
Veeramah, Krishna R

Publication type:

Article

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 469, doi. 10.1038/ejhg.2012.203

By:

Heesterman, Berdine L;
Bayley, Jean Pierre;
Tops, Carli M;
Hes, Frederik J;
van Brussel, Bernadette T J;
Corssmit, Eleonora P M;
Hamming, Jaap F;
van der Mey, Andel G L;
Jansen, Jeroen C

Publication type:

Article

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 455, doi. 10.1038/ejhg.2012.165

By:

Raca, Gordana;
Baas, Becky S;
Kirmani, Salman;
Laffin, Jennifer J;
Jackson, Craig A;
Strand, Edythe A;
Jakielski, Kathy J;
Shriberg, Lawrence D

Publication type:

Article

Fine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 460, doi. 10.1038/ejhg.2012.186

By:

Castéra, Laurent;
Dehainault, Catherine;
Michaux, Dorothée;
Lumbroso-Le Rouic, Livia;
Aerts, Isabelle;
Doz, Francois;
Pelet, Anna;
Couturier, Jérôme;
Stoppa-Lyonnet, Dominique;
Gauthier-Villars, Marion;
Houdayer, Claude

Publication type:

Article

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 361, doi. 10.1038/ejhg.2012.166

By:

Newbury, Dianne F;
Mari, Francesca;
Sadighi Akha, Elham;
MacDermot, Kay D;
Canitano, Roberto;
Monaco, Anthony P;
Taylor, Jenny C;
Renieri, Alessandra;
Fisher, Simon E;
Knight, Samantha J L

Publication type:

Article

Analyzing age-specific genetic effects on human extreme age survival in cohort-based longitudinal studies.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 451, doi. 10.1038/ejhg.2012.182

By:

Tan, Qihua;
Jacobsen, Rune;
Sørensen, Mette;
Christiansen, Lene;
Kruse, Torben A;
Christensen, Kaare

Publication type:

Article

Familial cosegregation of rare genetic variants with disease in complex disorders.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 444, doi. 10.1038/ejhg.2012.194

By:

Helbig, Ingo;
Hodge, Susan E;
Ottman, Ruth

Publication type:

Article

Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 397, doi. 10.1038/ejhg.2012.181

By:

Gisler, Franziska M;
von Kanel, Thomas;
Kraemer, Richard;
Schaller, André;
Gallati, Sabina

Publication type:

Article

Dilution of candidates: the case of iron-related genes in restless legs syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 410, doi. 10.1038/ejhg.2012.193

By:

Oexle, Konrad;
Schormair, Barbara;
Ried, Janina S;
Czamara, Darina;
Heim, Katharina;
Frauscher, Birgit;
Högl, Birgit;
Trenkwalder, Claudia;
Martin Fiedler, G;
Thiery, Joachim;
Lichtner, Peter;
Prokisch, Holger;
Specht, Michael;
Müller-Myhsok, Bertram;
Döring, Angela;
Gieger, Christian;
Peters, Annette;
Wichmann, H-Erich;
Meitinger, Thomas;
Winkelmann, Juliane

Publication type:

Article

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 367, doi. 10.1038/ejhg.2012.198

By:

Arélin, Maria;
Schulze, Bernt;
Müller-Myhsok, Bertram;
Horn, Denise;
Diers, Alexander;
Uhlenberg, Birgit;
Nürnberg, Peter;
Nürnberg, Gudrun;
Becker, Christian;
Mundlos, Stefan;
Lindner, Tom H;
Sperling, Karl;
Hoffmann, Katrin

Publication type:

Article

Do regulatory regions matter in FOXG1 duplications?

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 365, doi. 10.1038/ejhg.2012.142

By:

Falace, Antonio;
Vanni, Nicola;
Mallamaci, Antonello;
Striano, Pasquale;
Zara, Federico

Publication type:

Article

Detecting genetic variants for extreme aging using multiple data sources.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 359, doi. 10.1038/ejhg.2012.183

By:

Houwing-Duistermaat, Jeanine J

Publication type:

Article

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 386, doi. 10.1038/ejhg.2012.191

By:

Reinstein, Eyal;
Pariani, Mitchel;
Bannykh, Serguei;
Rimoin, David L;
Schievink, Wouter I

Publication type:

Article

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 373, doi. 10.1038/ejhg.2012.177

By:

Alvarado, David M;
Buchan, Jillian G;
Frick, Steven L;
Herzenberg, John E;
Dobbs, Matthew B;
Gurnett, Christina A

Publication type:

Article

Evidence from Y-chromosome analysis for a late exclusively eastern expansion of the Bantu-speaking people.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 423, doi. 10.1038/ejhg.2012.176

By:

Ansari Pour, Naser;
Plaster, Christopher A;
Bradman, Neil

Publication type:

Article