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
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
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