Works matching IS 10184813 AND DT 2015 AND VI 23 AND IP 2

Results: 26

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 224, doi. 10.1038/ejhg.2014.61

By:

Schepers, Dorien;
Doyle, Alexander J;
Oswald, Gretchen;
Sparks, Elizabeth;
Myers, Loretha;
Willems, Patrick J;
Mansour, Sahar;
Simpson, Michael A;
Frysira, Helena;
Maat-Kievit, Anneke;
Van Minkelen, Rick;
Hoogeboom, Jeanette M;
Mortier, Geert R;
Titheradge, Hannah;
Brueton, Louise;
Starr, Lois;
Stark, Zornitza;
Ockeloen, Charlotte;
Lourenco, Charles Marques;
Blair, Ed

Publication type:

Article

Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 218, doi. 10.1038/ejhg.2014.67

By:

Pan, Li-li;
Huang, Yuan-mao;
Wang, Min;
Zhuang, Xiao-e;
Luo, Dong-feng;
Guo, Shi-cheng;
Zhang, Zhi-shun;
Huang, Qing;
Lin, Sheng-long;
Wang, Shao-yuan

Publication type:

Article

Improving power for robust trans-ethnic meta-analysis of rare and low-frequency variants with a partitioning approach.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 238, doi. 10.1038/ejhg.2014.78

By:

Zakharov, Sergii;
Wang, Xu;
Liu, Jianjun;
Teo, Yik-Ying

Publication type:

Article

Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 264, doi. 10.1038/ejhg.2014.76

By:

Li, Dong;
Weber, David R;
Deardorff, Matthew A;
Hakonarson, Hakon;
Levine, Michael A

Publication type:

Article

Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. -1, doi. 10.1038/ejhg.2014.146

By:

Jaeken, Jaak;
Lefeber, Dirk;
Matthijs, Gert

Publication type:

Article

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 189, doi. 10.1038/ejhg.2014.83

By:

Seco, Celia Zazo;
Oonk, Anne MM;
Domínguez-Ruiz, María;
Draaisma, Jos MT;
Gandía, Marta;
Oostrik, Jaap;
Neveling, Kornelia;
Kunst, Henricus PM;
Hoefsloot, Lies H;
del Castillo, Ignacio;
Pennings, Ronald JE;
Kremer, Hannie;
Admiraal, Ronald JC;
Schraders, Margit

Publication type:

Article

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 165, doi. 10.1038/ejhg.2014.82

By:

Ercan-Sencicek, A Gulhan;
Jambi, Samira;
Franjic, Daniel;
Nishimura, Sayoko;
Li, Mingfeng;
El-Fishawy, Paul;
Morgan, Thomas M;
Sanders, Stephan J;
Bilguvar, Kaya;
Suri, Mohnish;
Johnson, Michele H;
Gupta, Abha R;
Yuksel, Zafer;
Mane, Shrikant;
Grigorenko, Elena;
Picciotto, Marina;
Alberts, Arthur S;
Gunel, Murat;
Šestan, Nenad;
State, Matthew W

Publication type:

Article

The functional polymorphism rs73598374:G>A (p.Asp8Asn) of the ADA gene is associated with telomerase activity and leukocyte telomere length.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 267, doi. 10.1038/ejhg.2014.102

By:

Concetti, Fabio;
Carpi, Francesco M;
Nabissi, Massimo;
Picciolini, Matteo;
Santoni, Giorgio;
Napolioni, Valerio

Publication type:

Article

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 159, doi. 10.1038/ejhg.2014.85

By:

Abdulhag, Ulla Najwa;
Soiferman, Devorah;
Schueler-Furman, Ora;
Miller, Chaya;
Shaag, Avraham;
Elpeleg, Orly;
Edvardson, Simon;
Saada, Ann

Publication type:

Article

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 252, doi. 10.1038/ejhg.2014.103

By:

Bieth, Eric;
Eddiry, Sanaa;
Gaston, Véronique;
Lorenzini, Françoise;
Buffet, Alexandre;
Conte Auriol, Françoise;
Molinas, Catherine;
Cailley, Dorothée;
Rooryck, Caroline;
Arveiler, Benoit;
Cavaillé, Jérome;
Salles, Jean Pierre;
Tauber, Maïthé

Publication type:

Article

Test of rare variant association based on affected sib-pairs.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 229, doi. 10.1038/ejhg.2014.43

By:

Sha, Qiuying;
Zhang, Shuanglin

Publication type:

Article

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75

By:

Szafranski, Przemyslaw;
Von Allmen, Gretchen K;
Graham, Brett H;
Wilfong, Angus A;
Kang, Sung-Hae L;
Ferreira, Jose A;
Upton, Sheila J;
Moeschler, John B;
Bi, Weimin;
Rosenfeld, Jill A;
Shaffer, Lisa G;
Wai Cheung, Sau;
Stankiewicz, Paweł;
Lalani, Seema R

Publication type:

Article

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 195, doi. 10.1038/ejhg.2014.81

By:

Livide, Gabriella;
Patriarchi, Tommaso;
Amenduni, Mariangela;
Amabile, Sonia;
Yasui, Dag;
Calcagno, Eleonora;
Lo Rizzo, Caterina;
De Falco, Giulia;
Ulivieri, Cristina;
Ariani, Francesca;
Mari, Francesca;
Mencarelli, Maria Antonietta;
Hell, Johannes Wilhelm;
Renieri, Alessandra;
Meloni, Ilaria

Publication type:

Article

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 202, doi. 10.1038/ejhg.2014.80

By:

Renkema, G Herma;
Wortmann, Saskia B;
Smeets, Roel J;
Venselaar, Hanka;
Antoine, Marion;
Visser, Gepke;
Ben-Omran, Tawfeg;
van den Heuvel, Lambert P;
Timmers, Henri J L M;
Smeitink, Jan A;
Rodenburg, Richard J T

Publication type:

Article

The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 245, doi. 10.1038/ejhg.2014.90

By:

Pereira, Vania;
Tomas, Carmen;
Sanchez, Juan J;
Syndercombe-Court, Denise;
Amorim, António;
Gusmão, Leonor;
Prata, Maria João;
Morling, Niels

Publication type:

Article

Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 260, doi. 10.1038/ejhg.2014.74

By:

Cheng, Timothy H T;
Gorman, Maggie;
Martin, Lynn;
Barclay, Ella;
Casey, Graham;
Saunders, Brian;
Thomas, Huw;
Clark, Sue;
Tomlinson, Ian

Publication type:

Article

Clinical utility gene card for: Angelman Syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 1, doi. 10.1038/ejhg.2014.93

By:

Buiting, Karin;
Clayton-Smith, Jill;
Driscoll, Daniel J;
Gillessen-Kaesbach, Gabriele;
Kanber, Deniz;
Schwinger, Eberhard;
Williams, Charles;
Horsthemke, Bernhard

Publication type:

Article

Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 152, doi. 10.1038/ejhg.2014.86

By:

Crook, Ashley;
Plunkett, Loren;
Forrest, Laura E;
Hallowell, Nina;
Wake, Samantha;
Alsop, Kathryn;
Gleeson, Margaret;
Bowtell, David;
Mitchell, Gillian;
Young, Mary-Anne

Publication type:

Article

Dynamic consent: a patient interface for twenty-first century research networks.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 141, doi. 10.1038/ejhg.2014.71

By:

Kaye, Jane;
Whitley, Edgar A;
Lund, David;
Morrison, Michael;
Teare, Harriet;
Melham, Karen

Publication type:

Article

Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 147, doi. 10.1038/ejhg.2014.84

By:

Jacobs, Chris;
Dancyger, Caroline;
Smith, Jonathan A;
Michie, Susan

Publication type:

Article

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 210, doi. 10.1038/ejhg.2014.79

By:

Casey, Jillian P;
McGettigan, Paul A;
Healy, Fiona;
Hogg, Claire;
Reynolds, Alison;
Kennedy, Breandan N;
Ennis, Sean;
Slattery, Dubhfeasa;
Lynch, Sally A

Publication type:

Article

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 180, doi. 10.1038/ejhg.2014.72

By:

Beygo, Jasmin;
Elbracht, Miriam;
de Groot, Karel;
Begemann, Matthias;
Kanber, Deniz;
Platzer, Konrad;
Gillessen-Kaesbach, Gabriele;
Vierzig, Anne;
Green, Andrew;
Heller, Raoul;
Buiting, Karin;
Eggermann, Thomas

Publication type:

Article

All you ever needed to explain genetics to non-geneticists.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 275, doi. 10.1038/ejhg.2014.203

By:

Collins, Amanda

Publication type:

Article

A classic textbook which will earn its space on your bookshelf.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 275, doi. 10.1038/ejhg.2014.204

By:

Collins, Amanda

Publication type:

Article

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 256, doi. 10.1038/ejhg.2014.73

By:

Abdollahpour, Hengameh;
Alawi, Malik;
Kortüm, Fanny;
Beckstette, Michael;
Seemanova, Eva;
Komárek, Vladimír;
Rosenberger, Georg;
Kutsche, Kerstin

Publication type:

Article

Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 2, p. 271, doi. 10.1038/ejhg.2014.77

By:

Ogun, Shamsideen Abayomi;
Martins, Sandra;
Adebayo, Philip B;
Dawodu, Clara O;
Sequeiros, Jorge;
Finkel, Michael F

Publication type:

Article