Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 11

Results: 30

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.90

By:

Rudnik-Schöneborn, Sabine;
Eggermann, Thomas;
Kress, Wolfram;
Lemmink, Henny H;
Cobben, Jan-Maarten;
Zerres, Klaus

Publication type:

Article

Genome-wide genetic investigation of serological measures of common infections.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1544, doi. 10.1038/ejhg.2015.24

By:

Rubicz, Rohina;
Yolken, Robert;
Drigalenko, Eugene;
Carless, Melanie A;
Dyer, Thomas D;
Kent Jr, Jack;
Curran, Joanne E;
Johnson, Matthew P;
Cole, Shelley A;
Fowler, Sharon P;
Arya, Rector;
Puppala, Sobha;
Almasy, Laura;
Moses, Eric K;
Kraig, Ellen;
Duggirala, Ravindranath;
Blangero, John;
Leach, Charles T;
Göring, Harald HH

Publication type:

Article

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1505, doi. 10.1038/ejhg.2015.21

By:

Damaj, Lena;
Lupien-Meilleur, Alexis;
Lortie, Anne;
Riou, Émilie;
Ospina, Luis H;
Gagnon, Louise;
Vanasse, Catherine;
Rossignol, Elsa

Publication type:

Article

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1531, doi. 10.1038/ejhg.2015.20

By:

Moncini, Silvia;
Bonati, Maria Teresa;
Morella, Ilaria;
Ferrari, Luca;
Brambilla, Riccardo;
Riva, Paola

Publication type:

Article

Microsatellite data show recent demographic expansions in sedentary but not in nomadic human populations in Africa and Eurasia.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2014.276

By:

Aime, Carla;
Verdu, Paul;
Ségurel, Laure;
Martinez-Cruz, Begoña;
Hegay, Tatyana;
Heyer, Evelyne;
Austerlitz, Frédéric

Publication type:

Article

CHARGE syndrome: a review of the immunological aspects.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1451, doi. 10.1038/ejhg.2015.7

By:

Wong, Monica TY;
Schölvinck, Elisabeth H;
Lambeck, Annechien JA;
van Ravenswaaij-Arts, Conny MA

Publication type:

Article

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1473, doi. 10.1038/ejhg.2015.71

By:

Ji, Jianling;
Lee, Hane;
Argiropoulos, Bob;
Dorrani, Naghmeh;
Mann, John;
Martinez-Agosto, Julian A;
Gomez-Ospina, Natalia;
Gallant, Natalie;
Bernstein, Jonathan A;
Hudgins, Louanne;
Slattery, Leah;
Isidor, Bertrand;
Le Caignec, Cédric;
David, Albert;
Obersztyn, Ewa;
Wiśniowiecka-Kowalnik, Barbara;
Fox, Michelle;
Deignan, Joshua L;
Vilain, Eric;
Hendricks, Emily

Publication type:

Article

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1523, doi. 10.1038/ejhg.2015.6

By:

Amitrano, Sara;
Marozza, Annabella;
Somma, Serena;
Imperatore, Valentina;
Hadjistilianou, Theodora;
De Francesco, Sonia;
Toti, Paolo;
Galimberti, Daniela;
Meloni, Ilaria;
Cetta, Francesco;
Piu, Pietro;
Di Marco, Chiara;
Dosa, Laura;
Lo Rizzo, Caterina;
Carignani, Giulia;
Mencarelli, Maria Antonietta;
Mari, Francesca;
Renieri, Alessandra;
Ariani, Francesca

Publication type:

Article

Genetic Counseling Research-A Practical Guide.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1591, doi. 10.1038/ejhg.2015.62

By:

Stefánsdóttir, Vigdís

Publication type:

Article

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1482, doi. 10.1038/ejhg.2015.29

By:

Bronicki, Lucas M;
Redin, Claire;
Drunat, Severine;
Piton, Amélie;
Lyons, Michael;
Passemard, Sandrine;
Baumann, Clarisse;
Faivre, Laurence;
Thevenon, Julien;
Rivière, Jean-Baptiste;
Isidor, Bertrand;
Gan, Grace;
Francannet, Christine;
Willems, Marjolaine;
Gunel, Murat;
Jones, Julie R;
Gleeson, Joseph G;
Mandel, Jean-Louis;
Stevenson, Roger E;
Friez, Michael J

Publication type:

Article

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57

By:

Dondorp, Wybo;
de Wert, Guido;
Bombard, Yvonne;
Bianchi, Diana W;
Bergmann, Carsten;
Borry, Pascal;
Chitty, Lyn S;
Fellmann, Florence;
Forzano, Francesca;
Hall, Alison;
Henneman, Lidewij;
Howard, Heidi C;
Lucassen, Anneke;
Ormond, Kelly;
Peterlin, Borut;
Radojkovic, Dragica;
Rogowski, Wolf;
Soller, Maria;
Tibben, Aad;
Tranebjærg, Lisbeth

Publication type:

Article

It is time to take timing seriously in clinical genetics.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1435, doi. 10.1038/ejhg.2014.271

By:

Kosztolányi, György

Publication type:

Article

Neurogenetics 'What do I do now?' series.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1590, doi. 10.1038/ejhg.2015.137

By:

Burkitt Wright, Emma

Publication type:

Article

A gene-based information gain method for detecting gene-gene interactions in case-control studies.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1566, doi. 10.1038/ejhg.2015.16

By:

Li, Jin;
Huang, Dongli;
Guo, Maozu;
Liu, Xiaoyan;
Wang, Chunyu;
Teng, Zhixia;
Zhang, Ruijie;
Jiang, Yongshuai;
Lv, Hongchao;
Wang, Limei

Publication type:

Article

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1488, doi. 10.1038/ejhg.2015.13

By:

Kagami, Masayo;
Kurosawa, Kenji;
Miyazaki, Osamu;
Ishino, Fumitoshi;
Matsuoka, Kentaro;
Ogata, Tsutomu

Publication type:

Article

KLLN epigenotype-phenotype associations in Cowden syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1538, doi. 10.1038/ejhg.2015.8

By:

Nizialek, Emily A;
Mester, Jessica L;
Dhiman, Vineet K;
Smiraglia, Dominic J;
Eng, Charis

Publication type:

Article

Kullback-Leibler divergence for detection of rare haplotype common disease association.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1558, doi. 10.1038/ejhg.2015.25

By:

Lin, Shili

Publication type:

Article

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109

By:

Dondorp, Wybo;
de Wert, Guido;
Bombard, Yvonne;
Bianchi, Diana W;
Bergmann, Carsten;
Borry, Pascal;
Chitty, Lyn S;
Fellmann, Florence;
Forzano, Francesca;
Hall, Alison;
Henneman, Lidewij;
Howard, Heidi C;
Lucassen, Anneke;
Ormond, Kelly;
Peterlin, Borut;
Radojkovic, Dragica;
Rogowski, Wolf;
Soller, Maria;
Tibben, Aad;
Tranebjærg, Lisbeth

Publication type:

Article

Clinical utility gene card for: Nemaline myopathy - update 2015.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.12

By:

Nowak, Kristen J;
Davis, Mark R;
Wallgren-Pettersson, Carina;
Lamont, Phillipa J;
Laing, Nigel G

Publication type:

Article

Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1549, doi. 10.1038/ejhg.2015.14

By:

Solé-Morata, Neus;
Bertranpetit, Jaume;
Comas, David;
Calafell, Francesc

Publication type:

Article

Next-generation sequencing in X-linked intellectual disability.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1513, doi. 10.1038/ejhg.2015.5

By:

Tzschach, Andreas;
Grasshoff, Ute;
Beck-Woedl, Stefanie;
Dufke, Claudia;
Bauer, Claudia;
Kehrer, Martin;
Evers, Christina;
Moog, Ute;
Oehl-Jaschkowitz, Barbara;
Di Donato, Nataliya;
Maiwald, Robert;
Jung, Christine;
Kuechler, Alma;
Schulz, Solveig;
Meinecke, Peter;
Spranger, Stephanie;
Kohlhase, Jürgen;
Seidel, Jörg;
Reif, Silke;
Rieger, Manuela

Publication type:

Article

Clinical utility gene card for: CHARGE syndrome - update 2015.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.15

By:

van Ravenswaaij-Arts, Conny MA;
Blake, Kim;
Hoefsloot, Lies;
Verloes, Alain

Publication type:

Article

Arg<sup>1809</sup> substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1460, doi. 10.1038/ejhg.2015.93

By:

Santoro, Claudia;
Maietta, Anna;
Giugliano, Teresa;
Melis, Daniela;
Perrotta, Silverio;
Nigro, Vincenzo;
Piluso, Giulio

Publication type:

Article

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1468, doi. 10.1038/ejhg.2015.23

By:

Paneque, Milena;
Sequeiros, Jorge;
Skirton, Heather

Publication type:

Article

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1499, doi. 10.1038/ejhg.2015.19

By:

Cafiero, Concetta;
Marangi, Giuseppe;
Orteschi, Daniela;
Ali, Marwan;
Asaro, Alessia;
Ponzi, Emanuela;
Moncada, Alice;
Ricciardi, Stefania;
Murdolo, Marina;
Mancano, Giorgia;
Contaldo, Ilaria;
Leuzzi, Vincenzo;
Battaglia, Domenica;
Mercuri, Eugenio;
Slavotinek, Anne M;
Zollino, Marcella

Publication type:

Article

A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1462, doi. 10.1038/ejhg.2015.10

By:

Otten, Ellen;
Birnie, Erwin;
Ranchor, Adelita V;
van Tintelen, J Peter;
van Langen, Irene M

Publication type:

Article

Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1581, doi. 10.1038/ejhg.2015.28

By:

Dudakova, Lubica;
Palos, Michalis;
Jirsova, Katerina;
Stranecky, Viktor;
Krepelova, Anna;
Hysi, Pirro G;
Liskova, Petra

Publication type:

Article

Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1584, doi. 10.1038/ejhg.2015.11

By:

Kim, Ji-In;
Long, Jeffrey D;
Mills, James A;
Downing, Nancy;
Williams, Janet K;
Paulsen, Jane S

Publication type:

Article

EIF3G is associated with narcolepsy across ethnicities.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1573, doi. 10.1038/ejhg.2015.4

By:

Holm, Anja;
Lin, Ling;
Faraco, Juliette;
Mostafavi, Sara;
Battle, Alexis;
Zhu, Xiaowei;
Levinson, Douglas F;
Han, Fang;
Gammeltoft, Steen;
Jennum, Poul;
Mignot, Emmanuel;
Kornum, Birgitte R

Publication type:

Article

Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1519, doi. 10.1038/ejhg.2015.22

By:

de Leeuw, Christiaan;
Goudriaan, Andrea;
Smit, August B;
Yu, Dongmei;
Mathews, Carol A;
Scharf, Jeremiah M;
Verheijen, Mark H G;
Posthuma, Danielle

Publication type:

Article