Works matching IS 10184813 AND DT 2012 AND VI 20 AND IP 4

Results: 19

Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 398, doi. 10.1038/ejhg.2011.199
By:
- Chung, Brian HY;
- Mullegama, Sureni;
- Marshall, Christian R;
- Lionel, Anath C;
- Weksberg, Rosanna;
- Dupuis, Lucie;
- Brick, Lauren;
- Li, Chumei;
- Scherer, Stephen W;
- Aradhya, Swaroop;
- Stavropoulos, D James;
- Elsea, Sarah H;
- Mendoza-Londono, Roberto
Publication type:
Article
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 463, doi. 10.1038/ejhg.2011.206
By:
- Chen, Guanjie;
- Ramos, Edward;
- Adeyemo, Adebowale;
- Shriner, Daniel;
- Zhou, Jie;
- Doumatey, Ayo P;
- Huang, Hanxia;
- Erdos, Michael R;
- Gerry, Norman P;
- Herbert, Alan;
- Bentley, Amy R;
- Xu, Huichun;
- Charles, Bashira A;
- Christman, Michael F;
- Rotimi, Charles N
Publication type:
Article
Temporal differentiation across a West-European Y-chromosomal cline: genealogy as a tool in human population genetics.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 434, doi. 10.1038/ejhg.2011.218
By:
- Larmuseau, Maarten HD;
- Ottoni, Claudio;
- Raeymaekers, Joost AM;
- Vanderheyden, Nancy;
- Larmuseau, Hendrik FM;
- Decorte, Ronny
Publication type:
Article
Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 376, doi. 10.1038/ejhg.2011.208
By:
- Keymolen, Kathelijn;
- Staessen, Catherine;
- Verpoest, Willem;
- Liebaers, Inge;
- Bonduelle, Maryse
Publication type:
Article
Nasal speech in patients with 12q15 microdeletions.
Published in:
2012
By:
- Vergult, Sarah;
- Krgovic, Danijela;
- Loeys, Bart;
- Lyonnet, Stanislas;
- Liedén, Agne;
- Anderlid, Britt-Marie;
- Sharkey, Freddie;
- Joss, Shelagh;
- Mortier, Geert;
- Menten, Björn
Publication type:
Letter
Effects of single-nucleotide polymorphisms in the human holocarboxylase synthetase gene on enzyme catalysis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 428, doi. 10.1038/ejhg.2011.198
By:
- Esaki, Shingo;
- Malkaram, Sridhar A;
- Zempleni, Janos
Publication type:
Article
In search of triallelism in Bardet-Biedl syndrome.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 420, doi. 10.1038/ejhg.2011.205
By:
- Abu-Safieh, Leen;
- Al-Anazi, Shamsa;
- Al-Abdi, Lama;
- Hashem, Mais;
- Alkuraya, Hisham;
- Alamr, Mushari;
- Sirelkhatim, Mugtaba O;
- Al-Hassnan, Zuhair;
- Alkuraya, Basim;
- Mohamed, Jawahir Y;
- Al-Salem, Ahmad;
- Alrashed, May;
- Faqeih, Eissa;
- Softah, Ameen;
- Al-Hashem, Amal;
- Wali, Sami;
- Rahbeeni, Zuhair;
- Alsayed, Moeen;
- Khan, Arif O;
- Al-Gazali, Lihadh
Publication type:
Article
Case report: type 1 diabetes in monozygotic quadruplets.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 457, doi. 10.1038/ejhg.2011.212
By:
- Stechova, Katerina;
- Halbhuber, Zbynek;
- Hubackova, Miluse;
- Kayserova, Jana;
- Petruzelkova, Lenka;
- Vcelakova, Jana;
- Kolouskova, Stanislava;
- Ulmannova, Tereza;
- Faresjö, Maria;
- Neuwirth, Ales;
- Spisek, Radek;
- Sediva, Anna;
- Filipp, Dominik;
- Sumnik, Zdenek
Publication type:
Article
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 404, doi. 10.1038/ejhg.2011.213
By:
- Homma, Sachiko;
- Chen, Jennifer CJ;
- Rahimov, Fedik;
- Beermann, Mary Lou;
- Hanger, Kendal;
- Bibat, Genila M;
- Wagner, Kathryn R;
- Kunkel, Louis M;
- Emerson, Charles P;
- Miller, Jeffrey Boone
Publication type:
Article
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 389, doi. 10.1038/ejhg.2011.203
By:
- Czugala, Marta;
- Karolak, Justyna A;
- Nowak, Dorota M;
- Polakowski, Piotr;
- Pitarque, Jose;
- Molinari, Andrea;
- Rydzanicz, Malgorzata;
- Bejjani, Bassem A;
- Yue, Beatrice Y J T;
- Szaflik, Jacek P;
- Gajecka, Marzena
Publication type:
Article
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 381, doi. 10.1038/ejhg.2011.220
By:
- Banka, Siddharth;
- Veeramachaneni, Ratna;
- Reardon, William;
- Howard, Emma;
- Bunstone, Sancha;
- Ragge, Nicola;
- Parker, Michael J;
- Crow, Yanick J;
- Kerr, Bronwyn;
- Kingston, Helen;
- Metcalfe, Kay;
- Chandler, Kate;
- Magee, Alex;
- Stewart, Fiona;
- McConnell, Vivienne P M;
- Donnelly, Deirdre E;
- Berland, Siren;
- Houge, Gunnar;
- Morton, Jenny E;
- Oley, Christine
Publication type:
Article
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 411, doi. 10.1038/ejhg.2011.207
By:
- Thomas, Laura;
- Spurlock, Gill;
- Eudall, Claire;
- Thomas, Nick S;
- Mort, Matthew;
- Hamby, Stephen E;
- Chuzhanova, Nadia;
- Brems, Hilde;
- Legius, Eric;
- Cooper, David N;
- Upadhyaya, Meena
Publication type:
Article
A flexible likelihood framework for detecting associations with secondary phenotypes in genetic studies using selected samples: application to sequence data.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 449, doi. 10.1038/ejhg.2011.211
By:
- Liu, Dajiang J;
- Leal, Suzanne M
Publication type:
Article
Antilipolytic effect of calcimimetics depends on the allelic variant of calcium-sensing receptor gene polymorphism rs1042636 (Arg990Gly).
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 480, doi. 10.1038/ejhg.2011.221
By:
- Reyes, Marcela;
- Rothe, Hansjörg M;
- Mattar, Pamela;
- Shapiro, Warren B;
- Cifuentes, Mariana
Publication type:
Article
A statistical method for region-based meta-analysis of genome-wide association studies in genetically diverse populations.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 469, doi. 10.1038/ejhg.2011.219
By:
- Wang, Xu;
- Liu, Xuanyao;
- Sim, Xueling;
- Xu, Haiyan;
- Khor, Chiea-Chuen;
- Ong, Rick Twee-Hee;
- Tay, Wan-Ting;
- Suo, Chen;
- Poh, Wan-Ting;
- Ng, Daniel Peng-Keat;
- Liu, Jianjun;
- Aung, Tin;
- Chia, Kee-Seng;
- Wong, Tien-Yin;
- Tai, E-Shyong;
- Teo, Yik-Ying
Publication type:
Article
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 368, doi. 10.1038/ejhg.2011.202
By:
- Van Rij, Maartje C;
- De Rademaeker, Marjan;
- Moutou, Céline;
- Dreesen, Jos CFM;
- De Rycke, Martine;
- Liebaers, Inge;
- Geraedts, Joep PM;
- De Die-Smulders, Christine EM;
- Viville, Stéphane
Publication type:
Article
'Nasal' speech-hyper or hypo?
Published in:
2012
By:
- Kirk, Edwin P
Publication type:
Letter
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 476, doi. 10.1038/ejhg.2011.222
By:
- Pierson, Tyler Mark;
- Simeonov, Dimitre R;
- Sincan, Murat;
- Adams, David A;
- Markello, Thomas;
- Golas, Gretchen;
- Fuentes-Fajardo, Karin;
- Hansen, Nancy F;
- Cherukuri, Praveen F;
- Cruz, Pedro;
- Blackstone, Craig;
- Tifft, Cynthia;
- Boerkoel, Cornelius F;
- Gahl, William A
Publication type:
Article
Sephardic signature in haplogroup T mitochondrial DNA.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 4, p. 441, doi. 10.1038/ejhg.2011.200
By:
- Bedford, Felice L
Publication type:
Article