Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 5

Results: 25

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220

By:

Vergult, Sarah;
Van Binsbergen, Ellen;
Sante, Tom;
Nowak, Silke;
Vanakker, Olivier;
Claes, Kathleen;
Poppe, Bruce;
Van der Aa, Nathalie;
van Roosmalen, Markus J;
Duran, Karen;
Tavakoli-Yaraki, Masoumeh;
Swinkels, Marielle;
van den Boogaard, Marie-José;
van Haelst, Mieke;
Roelens, Filip;
Speleman, Frank;
Cuppen, Edwin;
Mortier, Geert;
Kloosterman, Wigard P;
Menten, Björn

Publication type:

Article

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 633, doi. 10.1038/ejhg.2013.214

By:

Degiorgio, Dario;
Corsetto, Paola A;
Rizzo, Angela M;
Colombo, Carla;
Seia, Manuela;
Costantino, Lucy;
Montorfano, Gigliola;
Tomaiuolo, Rossella;
Bordo, Domenico;
Sansanelli, Serena;
Li, Min;
Tavian, Daniela;
Rastaldi, Maria P;
Coviello, Domenico A

Publication type:

Article

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 594, doi. 10.1038/ejhg.2013.207

By:

Leroy, Jules G;
Sillence, David;
Wood, Tim;
Barnes, Jarrod;
Lebel, Robert Roger;
Friez, Michael J;
Stevenson, Roger E;
Steet, Richard;
Cathey, Sara S

Publication type:

Article

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 703, doi. 10.1038/ejhg.2013.212

By:

Perez, Yonatan;
Gradstein, Libe;
Flusser, Hagit;
Markus, Barak;
Cohen, Idan;
Langer, Yshaia;
Marcus, Mira;
Lifshitz, Tova;
Kadir, Rotem;
Birk, Ohad S

Publication type:

Article

Molecular prioritization strategies to identify functional genetic variants in the cardiovascular disease-associated expression QTL Vanin-1.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 688, doi. 10.1038/ejhg.2013.208

By:

Kaskow, Belinda J;
Diepeveen, Luke A;
Michael Proffitt, J;
Rea, Alexander J;
Ulgiati, Daniela;
Blangero, John;
Moses, Eric K;
Abraham, Lawrence J

Publication type:

Article

A fast multilocus test with adaptive SNP selection for large-scale genetic-association studies.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 696, doi. 10.1038/ejhg.2013.201

By:

Zhang, Han;
Shi, Jianxin;
Liang, Faming;
Wheeler, William;
Stolzenberg-Solomon, Rachael;
Yu, Kai

Publication type:

Article

The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 660, doi. 10.1038/ejhg.2013.209

By:

Stanke, Frauke;
van Barneveld, Andrea;
Hedtfeld, Silke;
Wölfl, Stefan;
Becker, Tim;
Tümmler, Burkhard

Publication type:

Article

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 707, doi. 10.1038/ejhg.2013.223

By:

Hedberg, Carola;
Oldfors, Anders;
Darin, Niklas

Publication type:

Article

Clinical utility gene card for: Cystinosis.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.204

By:

Levtchenko, Elena;
van den Heuvel, Lambertus;
Emma, Francesco;
Antignac, Corinne

Publication type:

Article

Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 640, doi. 10.1038/ejhg.2013.210

By:

Bohlega, Saeed;
Al-Ajlan, Huda;
Al-Saif, Amr

Publication type:

Article

Clinical utility gene card for: 16p13.11 microdeletion syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.230

By:

Tropeano, Maria;
Andrieux, Joris;
Collier, David A

Publication type:

Article

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 587, doi. 10.1038/ejhg.2013.196

By:

Paciorkowski, Alex R;
Weisenberg, Judy;
Kelley, Joshua B;
Spencer, Adam;
Tuttle, Emily;
Ghoneim, Dalia;
Thio, Liu Lin;
Christian, Susan L;
Dobyns, William B;
Paschal, Bryce M

Publication type:

Article

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 644, doi. 10.1038/ejhg.2013.216

By:

Santos-Rebouças, Cíntia Barros;
Belet, Stefanie;
Guedes de Almeida, Luciana;
Ribeiro, Márcia Gonçalves;
Medina-Acosta, Enrique;
Bahia, Paulo Roberto Valle;
Alves da Silva, Antônio Francisco;
Lima dos Santos, Flávia;
Borges de Lacerda, Glenda Corrêa;
Pimentel, Márcia Mattos Gonçalves;
Froyen, Guy

Publication type:

Article

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 667, doi. 10.1038/ejhg.2013.198

By:

Rousseau, Julie;
Gioia, Roberta;
Layrolle, Pierre;
Lieubeau, Blandine;
Heymann, Dominique;
Rossi, Antonio;
Marini, Joan C;
Trichet, Valerie;
Forlino, Antonella

Publication type:

Article

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 610, doi. 10.1038/ejhg.2013.197

By:

Menabò, Soara;
Polat, Seher;
Baldazzi, Lilia;
Kulle, Alexandra E;
Holterhus, Paul-Martin;
Grötzinger, Joachim;
Fanelli, Flaminia;
Balsamo, Antonio;
Riepe, Felix G

Publication type:

Article

Offering prenatal diagnostic tests: European guidelines for clinical practice.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 580, doi. 10.1038/ejhg.2013.205

By:

Skirton, Heather;
Goldsmith, Lesley;
Jackson, Leigh;
Lewis, Celine;
Chitty, Lyn

Publication type:

Article

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 675, doi. 10.1038/ejhg.2013.199

By:

Becker, Jessica;
Czamara, Darina;
Scerri, Tom S;
Ramus, Franck;
Csépe, Valéria;
Talcott, Joel B;
Stein, John;
Morris, Andrew;
Ludwig, Kerstin U;
Hoffmann, Per;
Honbolygó, Ferenc;
Tóth, Dénes;
Fauchereau, Fabien;
Bogliotti, Caroline;
Iannuzzi, Stéphanie;
Chaix, Yves;
Valdois, Sylviane;
Billard, Catherine;
George, Florence;
Soares-Boucaud, Isabelle

Publication type:

Article

Identification of potential microRNA-target pairs associated with osteopetrosis by deep sequencing, iTRAQ proteomics and bioinformatics.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 625, doi. 10.1038/ejhg.2013.221

By:

Ou, Minglin;
Zhang, Xiaoqing;
Dai, Yong;
Gao, Jieying;
Zhu, Mingsong;
Yang, Xiangchun;
Li, Yuchao;
Yang, Ting;
Ding, Min

Publication type:

Article

The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 617, doi. 10.1038/ejhg.2013.200

By:

Kwok, Chau-To;
Vogelaar, Ingrid P;
van Zelst-Stams, Wendy A;
Mensenkamp, Arjen R;
Ligtenberg, Marjolijn J;
Rapkins, Robert W;
Ward, Robyn L;
Chun, Nicolette;
Ford, James M;
Ladabaum, Uri;
McKinnon, Wendy C;
Greenblatt, Marc S;
Hitchins, Megan P

Publication type:

Article

Life insurance: genomic stratification and risk classification.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 575, doi. 10.1038/ejhg.2013.228

By:

Joly, Yann;
Burton, Hilary;
Knoppers, Bartha Maria;
Feze, Ida Ngueng;
Dent, Tom;
Pashayan, Nora;
Chowdhury, Susmita;
Foulkes, William;
Hall, Alison;
Hamet, Pavel;
Kirwan, Nick;
Macdonald, Angus;
Simard, Jacques;
Van Hoyweghen, Ine

Publication type:

Article

Offering prenatal diagnostic tests: European guidelines for clinical practice.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 714, doi. 10.1038/ejhg.2014.55

By:

Skirton, Heather;
Goldsmith, Lesley;
Jackson, Leigh;
Lewis, Celine;
Chitty, Lyn

Publication type:

Article

Copy number variants in patients with short stature.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 602, doi. 10.1038/ejhg.2013.203

By:

van Duyvenvoorde, Hermine A;
Lui, Julian C;
Kant, Sarina G;
Oostdijk, Wilma;
Gijsbers, Antoinet CJ;
Hoffer, Mariëtte JV;
Karperien, Marcel;
Walenkamp, Marie JE;
Noordam, Cees;
Voorhoeve, Paul G;
Mericq, Verónica;
Pereira, Alberto M;
Claahsen-van de Grinten, Hedi L;
van Gool, Sandy A;
Breuning, Martijn H;
Losekoot, Monique;
Baron, Jeffrey;
Ruivenkamp, Claudia AL;
Wit, Jan M

Publication type:

Article

Genetic genealogy reveals true Y haplogroup of House of Bourbon contradicting recent identification of the presumed remains of two French Kings.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 681, doi. 10.1038/ejhg.2013.211

By:

Larmuseau, Maarten H D;
Delorme, Philippe;
Germain, Patrick;
Vanderheyden, Nancy;
Gilissen, Anja;
Van Geystelen, Anneleen;
Cassiman, Jean-Jacques;
Decorte, Ronny

Publication type:

Article

Clinical utility gene card for: Huntington's disease.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.206

By:

Saft, Carsten;
Leavitt, Blair R;
Epplen, Jörg T

Publication type:

Article

Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 5, p. 711, doi. 10.1038/ejhg.2013.164

By:

Steffann, Julie;
Michot, Caroline;
Borghese, Roxana;
Baptista-Fernandes, Marcia;
Monnot, Sophie;
Bonnefont, Jean-Paul;
Munnich, Arnold

Publication type:

Article