Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 4

Results: 26

An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 466, doi. 10.1038/ejhg.2014.122

By:

Steiner, Bernhard;
Masood, Rahim;
Rufibach, Kaspar;
Niedrist, Dunja;
Kundert, Oliver;
Riegel, Mariluce;
Schinzel, Albert

Publication type:

Article

Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 536, doi. 10.1038/ejhg.2014.134

By:

Lou, Haiyi;
Li, Shilin;
Jin, Wenfei;
Fu, Ruiqing;
Lu, Dongsheng;
Pan, Xinwei;
Zhou, Huaigu;
Ping, Yuan;
Jin, Li;
Xu, Shuhua

Publication type:

Article

Evaluation of European coeliac disease risk variants in a north Indian population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 530, doi. 10.1038/ejhg.2014.137

By:

Senapati, Sabyasachi;
Gutierrez-Achury, Javier;
Sood, Ajit;
Midha, Vandana;
Szperl, Agata;
Romanos, Jihane;
Zhernakova, Alexandra;
Franke, Lude;
Alonso, Santos;
Thelma, B K;
Wijmenga, Cisca;
Trynka, Gosia

Publication type:

Article

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 486, doi. 10.1038/ejhg.2014.130

By:

Eggers, Stefanie;
Smith, Katherine R;
Bahlo, Melanie;
Looijenga, Leendert HJ;
Drop, Stenvert LS;
Juniarto, Zulfa A;
Harley, Vincent R;
Koopman, Peter;
Faradz, Sultana MH;
Sinclair, Andrew H

Publication type:

Article

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 473, doi. 10.1038/ejhg.2014.136

By:

Shaikh, Rehan S;
Reuter, Peggy;
Sisk, Robert A;
Kausar, Tasleem;
Shahzad, Mohsin;
Maqsood, Muhammad I;
Yousif, Ateeq;
Ali, Muhammad;
Riazuddin, Saima;
Wissinger, Bernd;
Ahmed, Zubair M

Publication type:

Article

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 481, doi. 10.1038/ejhg.2014.132

By:

Romanelli Tavares, Vanessa L;
Gordon, Christopher T;
Zechi-Ceide, Roseli M;
Kokitsu-Nakata, Nancy Mizue;
Voisin, Norine;
Tan, Tiong Y;
Heggie, Andrew A;
Vendramini-Pittoli, Siulan;
Propst, Evan J;
Papsin, Blake C;
Torres, Tatiana T;
Buermans, Henk;
Capelo, Luciane Portas;
den Dunnen, Johan T;
Guion-Almeida, Maria L;
Lyonnet, Stanislas;
Amiel, Jeanne;
Passos-Bueno, Maria Rita

Publication type:

Article

The role of the genetic counsellor: a systematic review of research evidence.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 452, doi. 10.1038/ejhg.2014.116

By:

Skirton, Heather;
Cordier, Christophe;
Ingvoldstad, Charlotta;
Taris, Nicolas;
Benjamin, Caroline

Publication type:

Article

Clinical utility gene card for: Dyskeratosis congenita - update 2015.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.170

By:

Dokal, Inderjeet;
Vulliamy, Tom;
Mason, Philip;
Bessler, Monica

Publication type:

Article

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 516, doi. 10.1038/ejhg.2014.129

By:

Söderhäll, Cilla;
Körberg, Izabella Baranowska;
Thai, Hanh T T;
Cao, Jia;
Chen, Yougen;
Zhang, Xufeng;
Shulu, Zu;
van der Zanden, Loes F M;
van Rooij, Iris A L M;
Frisén, Louise;
Roeleveld, Nel;
Markljung, Ellen;
Kockum, Ingrid;
Nordenskjöld, Agneta

Publication type:

Article

Parents' responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screening.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 459, doi. 10.1038/ejhg.2014.126

By:

Ulph, Fiona;
Cullinan, Tim;
Qureshi, Nadeem;
Kai, Joe

Publication type:

Article

Genetic Heterogeneity and Human Disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 559, doi. 10.1038/ejhg.2015.2

By:

Ferlini, Alessandra;
Fini, Sergio

Publication type:

Article

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 551, doi. 10.1038/ejhg.2014.135

By:

Brady, Paul D;
Van Esch, Hilde;
Fieremans, Nathalie;
Froyen, Guy;
Slavotinek, Anne;
Deprest, Jan;
Devriendt, Koenraad;
Vermeesch, Joris R

Publication type:

Article

Functional correction by antisense therapy of a splicing mutation in the GALT gene.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 500, doi. 10.1038/ejhg.2014.149

By:

Coelho, Ana I;
Lourenço, Sílvia;
Trabuco, Matilde;
Silva, Maria João;
Oliveira, Anabela;
Gaspar, Ana;
Diogo, Luísa;
Tavares de Almeida, Isabel;
Vicente, João B;
Rivera, Isabel

Publication type:

Article

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 494, doi. 10.1038/ejhg.2014.133

By:

Rezwan, Faisal I;
Poole, Rebecca L;
Prescott, Trine;
Walker, Joanna M;
Karen Temple, I;
Mackay, Deborah JG

Publication type:

Article

Pathway analysis with next-generation sequencing data.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 507, doi. 10.1038/ejhg.2014.121

By:

Zhao, Jinying;
Zhu, Yun;
Boerwinkle, Eric;
Xiong, Momiao

Publication type:

Article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.40

By:

Garin, Intza;
Mantovani, Giovanna;
Aguirre, Urko;
Barlier, Anne;
Brix, Bettina;
Elli, Francesca M;
Freson, Kathleen;
Grybek, Virginie;
Izzi, Benedetta;
Linglart, Agne's;
de Nanclares, Guiomar Perez;
Silve, Caroline;
Thiele, Susanne;
Werner, Ralf

Publication type:

Article

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 426, doi. 10.1038/ejhg.2014.131

By:

Traeger-Synodinos, Joanne;
Harteveld, Cornelis L;
Old, John M;
Petrou, Mary;
Galanello, Renzo;
Giordano, Piero;
Angastioniotis, Michael;
De la Salle, Barbara;
Henderson, Shirley;
May, Alison

Publication type:

Article

A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 543, doi. 10.1038/ejhg.2014.124

By:

Stevens, Servi J C;
Blom, Eveline W;
Siegelaer, Ingrid T J;
Smeets, Eric E J G L

Publication type:

Article

Phenome-wide association studies (PheWASs) for functional variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 523, doi. 10.1038/ejhg.2014.123

By:

Ye, Zhan;
Mayer, John;
Ivacic, Lynn;
Zhou, Zhiyi;
He, Min;
Schrodi, Steven J;
Page, David;
Brilliant, Murray H;
Hebbring, Scott J

Publication type:

Article

Using whole-exome sequencing to identify variants inherited from mosaic parents.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 547, doi. 10.1038/ejhg.2014.125

By:

Rios, Jonathan J;
Delgado, Mauricio R

Publication type:

Article

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 417, doi. 10.1038/ejhg.2014.185

By:

Biancalana, Valérie;
Glaeser, Dieter;
McQuaid, Shirley;
Steinbach, Peter

Publication type:

Article

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178

By:

Orrico, Alfredo;
Galli, Lucia;
Clayton-Smith, Jill;
Fryns, Jean-Pierre

Publication type:

Article

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 438, doi. 10.1038/ejhg.2014.127

By:

Garin, Intza;
Mantovani, Giovanna;
Aguirre, Urko;
Barlier, Anne;
Brix, Bettina;
Elli, Francesca M;
Freson, Kathleen;
Grybek, Virginie;
Izzi, Benedetta;
Linglart, Agnès;
Perez de Nanclares, Guiomar;
Silve, Caroline;
Thiele, Susanne;
Werner, Ralf

Publication type:

Article

Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 445, doi. 10.1038/ejhg.2014.159

By:

de La Dure-Molla, Muriel;
Philippe Fournier, Benjamin;
Berdal, Ariane

Publication type:

Article

No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 555, doi. 10.1038/ejhg.2014.228

By:

Ruderfer, Douglas M;
Lim, Elaine T;
Genovese, Giulio;
Moran, Jennifer L;
Hultman, Christina M;
Sullivan, Patrick F;
McCarroll, Steven A;
Holmans, Peter;
Sklar, Pamela;
Purcell, Shaun M

Publication type:

Article

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. 560, doi. 10.1038/ejhg.2015.39

By:

Traeger-Synodinos, Joanne;
Harteveld, Cornelis L;
Old, John M;
Petrou, Mary;
Galanello, Renzo;
Giordano, Piero;
Angastioniotis, Michael;
De la Salle, Barbara;
Henderson, Shirley;
May, Alison

Publication type:

Article