Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 12

Results: 29

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1744, doi. 10.1038/ejhg.2015.161

By:

Sansbury, Francis H;
Kirel, Birgül;
Caswell, Richard;
Lango Allen, Hana;
Flanagan, Sarah E;
Hattersley, Andrew T;
Ellard, Sian;
Shaw-Smith, Charles J

Publication type:

Article

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1702, doi. 10.1038/ejhg.2015.66

By:

Lozano, Reymundo;
Vino, Arianna;
Lozano, Cristina;
Fisher, Simon E;
Deriziotis, Pelagia

Publication type:

Article

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1627, doi. 10.1038/ejhg.2015.46

By:

Evers, Christina;
Paramasivam, Nagarajan;
Hinderhofer, Katrin;
Fischer, Christine;
Granzow, Martin;
Schmidt-Bacher, Annette;
Eils, Roland;
Steinbeisser, Herbert;
Schlesner, Matthias;
Moog, Ute

Publication type:

Article

Cerebral visual impairment and intellectual disability caused by PGAP1 variants.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1689, doi. 10.1038/ejhg.2015.42

By:

Bosch, Daniëlle G M;
Boonstra, F Nienke;
Kinoshita, Taroh;
Jhangiani, Shalini;
de Ligt, Joep;
Cremers, Frans P M;
Lupski, James R;
Murakami, Yoshiko;
de Vries, Bert B A

Publication type:

Article

The lymphatic phenotype in Turner syndrome: an evaluation of nineteen patients and literature review.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1634, doi. 10.1038/ejhg.2015.41

By:

Atton, Giles;
Gordon, Kristiana;
Brice, Glen;
Keeley, Vaughan;
Riches, Katie;
Ostergaard, Pia;
Mortimer, Peter;
Mansour, Sahar

Publication type:

Article

Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1, doi. 10.1038/ejhg.2014.146

By:

Jaeken, Jaak;
Lefeber, Dirk;
Matthijs, Gert

Publication type:

Article

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1593, doi. 10.1038/ejhg.2014.289

By:

Howard, Heidi Carmen;
Knoppers, Bartha Maria;
Cornel, Martina C;
Wright Clayton, Ellen;
Sénécal, Karine;
Borry, Pascal

Publication type:

Article

A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1673, doi. 10.1038/ejhg.2015.52

By:

Milillo, Annamaria;
La Carpia, Francesca;
Costanzi, Stefano;
D'Urbano, Vanessa;
Martini, Maurizio;
Lanuti, Paola;
Vischini, Gisella;
Larocca, Luigi M;
Marchisio, Marco;
Miscia, Sebastiano;
Amoroso, Antonio;
Gurrieri, Fiorella;
Sangiorgi, Eugenio

Publication type:

Article

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1646, doi. 10.1038/ejhg.2015.54

By:

Dad, Shzeena;
Rendtorff, Nanna D;
Kann, Erik;
Albrechtsen, Anders;
Mehrjouy, Mana M;
Bak, Mads;
Tommerup, Niels;
Tranebjærg, Lisbeth;
Rosenberg, Thomas;
Jensen, Hanne;
Møller, Lisbeth B

Publication type:

Article

No evidence for increased mortality in SDHD variant carriers compared with the general population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1713, doi. 10.1038/ejhg.2015.36

By:

van Hulsteijn, Leonie T;
Heesterman, Berdine;
Jansen, Jeroen C;
Bayley, Jean-Pierre;
Hes, Frederik J;
Corssmit, Eleonora P M;
Dekkers, Olaf M

Publication type:

Article

Pathogenic mitochondrial mt-tRNA<sup>Ala</sup> variants are uniquely associated with isolated myopathy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1735, doi. 10.1038/ejhg.2015.73

By:

Lehmann, Diana;
Schubert, Kathrin;
Joshi, Pushpa R;
Hardy, Steven A;
Tuppen, Helen A L;
Baty, Karen;
Blakely, Emma L;
Bamberg, Christian;
Zierz, Stephan;
Deschauer, Marcus;
Taylor, Robert W

Publication type:

Article

Association of mutations in FLNA with craniosynostosis.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1684, doi. 10.1038/ejhg.2015.31

By:

Fennell, Nathalie;
Foulds, Nicola;
Johnson, Diana S;
Wilson, Louise C;
Wyatt, Michelle;
Robertson, Stephen P;
Johnson, David;
Wall, Steven A;
Wilkie, Andrew OM

Publication type:

Article

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1729, doi. 10.1038/ejhg.2014.241

By:

Fine, Dina;
Flusser, Hagit;
Markus, Barak;
Shorer, Zamir;
Gradstein, Libe;
Khateeb, Shareef;
Langer, Yshia;
Narkis, Ginat;
Birk, Ruth;
Galil, Aharon;
Shelef, Ilan;
Birk, Ohad S

Publication type:

Article

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1708, doi. 10.1038/ejhg.2015.50

By:

Ferri, Lorenzo;
Donati, Maria A;
Funghini, Silvia;
Cavicchi, Catia;
Pensato, Viviana;
Gellera, Cinzia;
Natacci, Federica;
Spaccini, Luigina;
Gasperini, Serena;
Vaz, Frédéric M;
Cooper, David N;
Guerrini, Renzo;
Morrone, Amelia

Publication type:

Article

Stakeholders' perspectives on biobank-based genomic research: systematic review of the literature.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1607, doi. 10.1038/ejhg.2015.27

By:

Husedzinovic, Alma;
Ose, Dominik;
Schickhardt, Christoph;
Fröhling, Stefan;
Winkler, Eva C

Publication type:

Article

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38

By:

Racacho, Lemuel;
Byrnes, Ashley M;
MacDonald, Heather;
Dranse, Helen J;
Nikkel, Sarah M;
Allanson, Judith;
Rosser, Elisabeth;
Underhill, T Michael;
Bulman, Dennis E

Publication type:

Article

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1, doi. 10.1038/ejhg.2015.67

By:

Manitto, Maria Pia;
Roosing, Susanne;
Boon, Camiel J F;
Souied, Eric H;
Bandello, Francesco;
Querques, Giuseppe

Publication type:

Article

Partial USH2A deletions contribute to Usher syndrome in Denmark.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.131

By:

Dad, Shzeena;
Rendtorff, Nanna D;
Kann, Erik;
Albrechtsen, Anders;
Mehrjouy, Mana M;
Bak, Mads;
Tommerup, Niels;
Tranebjærg, Lisbeth;
Rosenberg, Thomas;
Jensen, Hanne;
Møller, Lisbeth B

Publication type:

Article

Towards a European consensus for reporting incidental findings during clinical NGS testing.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1601, doi. 10.1038/ejhg.2015.111

By:

Hehir-Kwa, Jayne Y;
Claustres, Mireille;
Hastings, Ros J;
van Ravenswaaij-Arts, Conny;
Christenhusz, Gabrielle;
Genuardi, Maurizio;
Melegh, Béla;
Cambon-Thomsen, Anne;
Patsalis, Philippos;
Vermeesch, Joris;
Cornel, Martina C;
Searle, Beverly;
Palotie, Aarno;
Capoluongo, Ettore;
Peterlin, Borut;
Estivill, Xavier;
Robinson, Peter N

Publication type:

Article

Deciphering associations for lung cancer risk through imputation and analysis of 12 316 cases and 16 831 controls.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1723, doi. 10.1038/ejhg.2015.48

By:

Wang, Yufei;
Wei, Yongyue;
Gaborieau, Valerie;
Shi, Jianxin;
Han, Younghun;
Timofeeva, Maria N;
Su, Li;
Li, Yafang;
Eisen, Timothy;
Amos, Christopher I;
Landi, Maria Teresa;
Christiani, David C;
McKay, James D;
Houlston, Richard S

Publication type:

Article

Genome-wide association analysis on five isolated populations identifies variants of the HLA-DOA gene associated with white wine liking.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1717, doi. 10.1038/ejhg.2015.34

By:

Pirastu, Nicola;
Kooyman, Maarten;
Traglia, Michela;
Robino, Antonietta;
Willems, Sara M;
Pistis, Giorgio;
Amin, Najaf;
Sala, Cinzia;
Karssen, Lennart C;
van Duijn, Cornelia M;
Toniolo, Daniela;
Gasparini, Paolo

Publication type:

Article

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1652, doi. 10.1038/ejhg.2015.30

By:

Tønne, Elin;
Holdhus, Rita;
Stansberg, Christine;
Stray-Pedersen, Asbjørg;
Petersen, Kjell;
Brunner, Han G;
Gilissen, Christian;
Hoischen, Alexander;
Prescott, Trine;
Steen, Vidar M;
Fiskerstrand, Torunn

Publication type:

Article

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.208

By:

Sansbury, Francis H;
Kirel, Birgül;
Caswell, Richard;
Lango Allen, Hana;
Flanagan, Sarah E;
Hattersley, Andrew T;
Ellard, Sian;
Shaw-Smith, Charles J

Publication type:

Article

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1657, doi. 10.1038/ejhg.2015.32

By:

Frank, Michael;
Albuisson, Juliette;
Ranque, Brigitte;
Golmard, Lisa;
Mazzella, Jean-Michael;
Bal-Theoleyre, Laurence;
Fauret, Anne-Laure;
Mirault, Tristan;
Denarié, Nicolas;
Mousseaux, Elie;
Boutouyrie, Pierre;
Fiessinger, Jean-Noël;
Emmerich, Joseph;
Messas, Emmanuel;
Jeunemaitre, Xavier

Publication type:

Article

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51

By:

Nevado, Julián;
Rosenfeld, Jill A;
Mena, Rocío;
Palomares-Bralo, María;
Vallespín, Elena;
Ángeles Mori, María;
Tenorio, Jair A;
Gripp, Karen W;
Denenberg, Elizabeth;
del Campo, Miguel;
Plaja, Alberto;
Martín-Arenas, Rubén;
Santos-Simarro, Fernando;
Armengol, Lluis;
Gowans, Gordon;
Orera, María;
Sanchez-Hombre, M Carmen;
Corbacho-Fernández, Esther;
Fernández-Jaén, Alberto;
Haldeman-Englert, Chad

Publication type:

Article

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1665, doi. 10.1038/ejhg.2015.47

By:

Kwiatkowski, David J;
Palmer, Michael R;
Jozwiak, Sergiusz;
Bissler, John;
Franz, David;
Segal, Scott;
Chen, David;
Sampson, Julian R

Publication type:

Article

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1679, doi. 10.1038/ejhg.2015.49

By:

Klar, Joakim;
Raykova, Doroteya;
Gustafson, Elisabet;
Tóthová, Iveta;
Ameur, Adam;
Wanders, Alkwin;
Dahl, Niklas

Publication type:

Article

Collapsed haplotype pattern method for linkage analysis of next-generation sequence data.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1739, doi. 10.1038/ejhg.2015.64

By:

Wang, Gao T;
Zhang, Di;
Li, Biao;
Dai, Hang;
Leal, Suzanne M

Publication type:

Article

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1694, doi. 10.1038/ejhg.2015.37

By:

Torrico, Bàrbara;
Fernàndez-Castillo, Noèlia;
Hervás, Amaia;
Milà, Montserrat;
Salgado, Marta;
Rueda, Isabel;
Buitelaar, Jan K;
Rommelse, Nanda;
Oerlemans, Anoek M;
Bralten, Janita;
Freitag, Christine M;
Reif, Andreas;
Battaglia, Agatino;
Mazzone, Luigi;
Maestrini, Elena;
Cormand, Bru;
Toma, Claudio

Publication type:

Article