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

Results: 24

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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