Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 6

Results: 34

The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 774, doi. 10.1038/ejhg.2014.188

By:

Canales, Cesar P;
Wong, Ann C Y;
Gunning, Peter W;
Housley, Gary D;
Hardeman, Edna C;
Palmer, Stephen J

Publication type:

Article

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 796, doi. 10.1038/ejhg.2014.181

By:

Jørgensen, Agnete;
Fagerheim, Toril;
Rand-Hendriksen, Svend;
Lunde, Per I;
Vorren, Torgrim O;
Pepin, Melanie G;
Leistritz, Dru F;
Byers, Peter H

Publication type:

Article

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 761, doi. 10.1038/ejhg.2014.202

By:

Tokita, Mari J;
Chow, Penny M;
Mirzaa, Ghayda;
Dikow, Nicola;
Maas, Bianca;
Isidor, Bertrand;
Le Caignec, Cédric;
Penney, Lynette S;
Mazzotta, Giovanni;
Bernardini, Laura;
Filippi, Tiziana;
Battaglia, Agatino;
Donti, Emilio;
Earl, Dawn;
Prontera, Paolo

Publication type:

Article

Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 736, doi. 10.1038/ejhg.2014.186

By:

Douglas, Conor MW;
Scheltens, Philip

Publication type:

Article

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB) - Update 2014.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.225

By:

Burnett, John R;
Bell, Damon A;
Hooper, Amanda J;
Hegele, Robert A

Publication type:

Article

Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.176

By:

Claverie-Martín, Félix;
Vargas-Poussou, Rosa;
Müller, Dominik;
García-Nieto, Víctor

Publication type:

Article

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.179

By:

Li, Feng-Yen;
Chaigne-Delalande, Benjamin;
Rao, V Koneti;
Zhang, Yu;
Matthews, Helen;
Kuijpers, Taco (TW);
Su, Helen;
Uzel, Gulbu;
Lenardo, Michael J

Publication type:

Article

Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 854, doi. 10.1038/ejhg.2014.189

By:

Singh, Abanish;
Babyak, Michael A;
Nolan, Daniel K;
Brummett, Beverly H;
Jiang, Rong;
Siegler, Ilene C;
Kraus, William E;
Shah, Svati H;
Williams, Redford B;
Hauser, Elizabeth R

Publication type:

Article

A MYLK variant regulates asthmatic inflammation via alterations in mRNA secondary structure.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 874, doi. 10.1038/ejhg.2014.201

By:

Wang, Ting;
Zhou, Tong;
Saadat, Laleh;
Garcia, Joe GN

Publication type:

Article

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP) - update 2014.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.193

By:

Aretz, Stefan;
Vasen, Hans FA;
Olschwang, Sylviane

Publication type:

Article

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 880, doi. 10.1038/ejhg.2014.192

By:

Metodiev, Metodi D;
Assouline, Zahra;
Landrieu, Pierre;
Chretien, Dominique;
Bader-Meunier, Brigitte;
Guitton, Corinne;
Munnich, Arnold;
Rötig, Agnès

Publication type:

Article

The dystrophin gene and cognitive function in the general population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 837, doi. 10.1038/ejhg.2014.183

By:

Vojinovic, Dina;
Adams, Hieab HH;
van der Lee, Sven J;
Ibrahim-Verbaas, Carla A;
Brouwer, Rutger;
van den Hout, Mirjam CGN;
Oole, Edwin;
van Rooij, Jeroen;
Uitterlinden, Andre;
Hofman, Albert;
van IJcken, Wilfred FJ;
Aartsma-Rus, Annemieke;
van Ommen, GertJan B;
Ikram, M Arfan;
van Duijn, Cornelia M;
Amin, Najaf

Publication type:

Article

Fine-scale human genetic structure in Western France.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 831, doi. 10.1038/ejhg.2014.175

By:

Karakachoff, Matilde;
Duforet-Frebourg, Nicolas;
Simonet, Floriane;
Le Scouarnec, Solena;
Pellen, Nadine;
Lecointe, Simon;
Charpentier, Eric;
Gros, Françoise;
Cauchi, Stéphane;
Froguel, Philippe;
Copin, Nane;
Le Tourneau, Thierry;
Probst, Vincent;
Le Marec, Hervé;
Molinaro, Sabrina;
Balkau, Beverley;
Redon, Richard;
Schott, Jean-Jacques;
Blum, Michael GB;
Dina, Christian

Publication type:

Article

Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 790, doi. 10.1038/ejhg.2014.199

By:

Khamis, Amna;
Palmen, Jutta;
Lench, Nick;
Taylor, Alison;
Badmus, Ebele;
Leigh, Sarah;
Humphries, Steve E

Publication type:

Article

Low frequency of TERT promoter mutations in gastrointestinal stromal tumors (GISTs).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 877, doi. 10.1038/ejhg.2014.195

By:

Campanella, Nathália C;
Celestino, Ricardo;
Pestana, Ana;
Scapulatempo-Neto, Cristovam;
de Oliveira, Antonio Talvane;
Brito, Maria José;
Gouveia, António;
Lopes, José Manuel;
Guimarães, Denise Peixoto;
Soares, Paula;
Reis, Rui M

Publication type:

Article

A systematic review of factors that act as barriers to patient referral to genetic services.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 739, doi. 10.1038/ejhg.2014.180

By:

Delikurt, Türem;
Williamson, Graham R;
Anastasiadou, Violetta;
Skirton, Heather

Publication type:

Article

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 753, doi. 10.1038/ejhg.2014.165

By:

Kuechler, Alma;
Zink, Alexander M;
Wieland, Thomas;
Lüdecke, Hermann-Josef;
Cremer, Kirsten;
Salviati, Leonardo;
Magini, Pamela;
Najafi, Kimia;
Zweier, Christiane;
Czeschik, Johanna Christina;
Aretz, Stefan;
Endele, Sabine;
Tamburrino, Federica;
Pinato, Claudia;
Clementi, Maurizio;
Gundlach, Jasmin;
Maylahn, Carina;
Mazzanti, Laura;
Wohlleber, Eva;
Schwarzmayr, Thomas

Publication type:

Article

MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 781, doi. 10.1038/ejhg.2014.200

By:

Mullegama, Sureni V;
Pugliesi, Loren;
Burns, Brooke;
Shah, Zalak;
Tahir, Raiha;
Gu, Yanghong;
Nelson, David L;
Elsea, Sarah H

Publication type:

Article

Clinical utility gene card for: Abetalipoproteinaemia - Update 2014.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.224

By:

Burnett, John R;
Bell, Damon A;
Hooper, Amanda J;
Hegele, Robert A

Publication type:

Article

VPS35 and DNAJC13 disease-causing variants in essential tremor.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 887, doi. 10.1038/ejhg.2014.164

By:

Rajput, Alex;
Ross, Jay P;
Bernales, Cecily Q;
Rayaprolu, Sruti;
Soto-Ortolaza, Alexandra I;
Ross, Owen A;
van Gerpen, Jay;
Uitti, Ryan J;
Wszolek, Zbigniew K;
Rajput, Ali H;
Vilariño-Güell, Carles

Publication type:

Article

Clinical utility gene card for: Werner Syndrome - Update 2014.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.171

By:

Hisama, Fuki M;
Kubisch, Christian;
Martin, George M;
Oshima, Junko

Publication type:

Article

Heritability estimates on Hodgkin's lymphoma: a genomic- versus population-based approach.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 824, doi. 10.1038/ejhg.2014.184

By:

Thomsen, Hauke;
da Silva Filho, Miguel Inacio;
Försti, Asta;
Fuchs, Michael;
Ponader, Sabine;
von Strandmann, Elke Pogge;
Eisele, Lewin;
Herms, Stefan;
Hofmann, Per;
Sundquist, Jan;
Engert, Andreas;
Hemminki, Kari

Publication type:

Article

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 766, doi. 10.1038/ejhg.2014.168

By:

Robusto, Michela;
Fang, Mingyan;
Asselta, Rosanna;
Castorina, Pierangela;
Previtali, Stefano C;
Caccia, Sonia;
Benzoni, Elena;
De Cristofaro, Raimondo;
Yu, Cong;
Cesarani, Antonio;
Liu, Xuanzhu;
Li, Wangsheng;
Primignani, Paola;
Ambrosetti, Umberto;
Xu, Xun;
Duga, Stefano;
Soldà, Giulia

Publication type:

Article

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 883, doi. 10.1038/ejhg.2014.169

By:

O'Grady, Gina L;
Best, Heather A;
Oates, Emily C;
Kaur, Simranpreet;
Charlton, Amanda;
Brammah, Susan;
Punetha, Jaya;
Kesari, Akanchha;
North, Kathryn N;
Ilkovski, Biljana;
Hoffman, Eric P;
Clarke, Nigel F

Publication type:

Article

Clinical utility gene card for: Lowe syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.177

By:

Bökenkamp, Arend;
Levtchenko, Elena;
Recker, Florian;
Ludwig, Michael

Publication type:

Article

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 808, doi. 10.1038/ejhg.2014.191

By:

Larsen, Mirjam;
Rost, Simone;
El Hajj, Nady;
Ferbert, Andreas;
Deschauer, Marcus;
Walter, Maggie C;
Schoser, Benedikt;
Tacik, Pawel;
Kress, Wolfram;
Müller, Clemens R

Publication type:

Article

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 746, doi. 10.1038/ejhg.2014.174

By:

Barisic, Ingeborg;
Boban, Ljubica;
Loane, Maria;
Garne, Ester;
Wellesley, Diana;
Calzolari, Elisa;
Dolk, Helen;
Addor, Marie-Claude;
Bergman, Jorieke EH;
Braz, Paula;
Draper, Elizabeth S;
Haeusler, Martin;
Khoshnood, Babak;
Klungsoyr, Kari;
Pierini, Anna;
Queisser-Luft, Annette;
Rankin, Judith;
Rissmann, Anke;
Verellen-Dumoulin, Christine

Publication type:

Article

Folate-related polymorphisms in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 817, doi. 10.1038/ejhg.2014.198

By:

Angelini, Sabrina;
Ravegnini, Gloria;
Nannini, Margherita;
Bermejo, Justo Lorenzo;
Musti, Muriel;
Pantaleo, Maria A;
Fumagalli, Elena;
Venturoli, Nicola;
Palassini, Elena;
Consolini, Nicola;
Casali, Paolo G;
Biasco, Guido;
Hrelia, Patrizia

Publication type:

Article

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 870, doi. 10.1038/ejhg.2014.210

By:

Emmerich, Denise;
Zemojtel, Tomasz;
Hecht, Jochen;
Krawitz, Peter;
Spielmann, Malte;
Kühnisch, Jirko;
Kobus, Karolina;
Osswald, Monika;
Heinrich, Verena;
Berlien, Peter;
Müller, Ute;
Mautner, Victor-F;
Wimmer, Katharina;
Robinson, Peter N;
Vingron, Martin;
Tinschert, Sigrid;
Mundlos, Stefan;
Kolanczyk, Mateusz

Publication type:

Article

Homogeneous case subgroups increase power in genetic association studies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 863, doi. 10.1038/ejhg.2014.194

By:

Traylor, Matthew;
Markus, Hugh;
Lewis, Cathryn M

Publication type:

Article

International Charter of principles for sharing bio-specimens and data.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 721, doi. 10.1038/ejhg.2014.197

By:

Mascalzoni, Deborah;
Dove, Edward S;
Rubinstein, Yaffa;
Dawkins, Hugh J S;
Kole, Anna;
McCormack, Pauline;
Woods, Simon;
Riess, Olaf;
Schaefer, Franz;
Lochmüller, Hanns;
Knoppers, Bartha M;
Hansson, Mats

Publication type:

Article

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 729, doi. 10.1038/ejhg.2014.190

By:

Severin, Franziska;
Borry, Pascal;
Cornel, Martina C;
Daniels, Norman;
Fellmann, Florence;
Victoria Hodgson, Shirley;
Howard, Heidi C;
John, Jürgen;
Kääriäinen, Helena;
Kayserili, Hülya;
Kent, Alastair;
Koerber, Florian;
Kristoffersson, Ulf;
Kroese, Mark;
Lewis, Celine;
Marckmann, Georg;
Meyer, Peter;
Pfeufer, Arne;
Schmidtke, Jörg;
Skirton, Heather

Publication type:

Article

Fine mapping of eight psoriasis susceptibility loci.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 844, doi. 10.1038/ejhg.2014.172

By:

Das, Sayantan;
Stuart, Philip E;
Ding, Jun;
Tejasvi, Trilokraj;
Li, Yanming;
Tsoi, Lam C;
Chandran, Vinod;
Fischer, Judith;
Helms, Cynthia;
Duffin, Kristina Callis;
Voorhees, John J;
Bowcock, Anne M;
Krueger, Gerald G;
Lathrop, G Mark;
Nair, Rajan P;
Rahman, Proton;
Abecasis, Goncalo R;
Gladman, Dafna;
Elder, James T

Publication type:

Article

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173

By:

Beunders, Gea;
de Munnik, Sonja A;
Van der Aa, Nathalie;
Ceulemans, Berten;
Voorhoeve, Els;
Groffen, Alexander J;
Nillesen, Willy M;
Meijers-Heijboer, Elizabeth J;
Frank Kooy, R;
Yntema, Helger G;
Sistermans, Erik A

Publication type:

Article