Works in European Journal of Human Genetics, 2012, Vol 20, Issue 4

Results: 19

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

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

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

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

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

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

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

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

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

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

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

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

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