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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
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
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
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
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
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
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
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
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 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
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
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
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
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
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

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