Works matching IS 00099163 AND DT 2017 AND VI 91 AND IP 3

Results: 24

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 386, doi. 10.1111/cge.12810

By:

Fattahi, Z.;
Kalhor, Z.;
Fadaee, M.;
Vazehan, R.;
Parsimehr, E.;
Abolhassani, A.;
Beheshtian, M.;
Zamani, G.;
Nafissi, S.;
Nilipour, Y.;
Akbari, M.R.;
Kahrizi, K.;
Kariminejad, A.;
Najmabadi, H.

Publication type:

Article

An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 453, doi. 10.1111/cge.12869

By:

Navas Tejedor, P.;
Tenorio Castaño, J.;
Palomino Doza, J.;
Arias Lajara, P.;
Gordo Trujillo, G.;
López Meseguer, M.;
Román Broto, A.;
Lapunzina Abadía, P.;
Escribano Subía, P.

Publication type:

Article

Erratum.

Published in:: Clinical Genetics, 2017, v. 91, n. 3, p. 503, doi. 10.1111/cge.12933
Publication type:: Article

Response to: The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 501, doi. 10.1111/cge.12922

By:

Caspar, S.;
Meienberg, J.;
Matyas, G.

Publication type:

Article

Cardiovascular pharmacogenetics: a promise for genomically-guided therapy and personalized medicine.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 355, doi. 10.1111/cge.12881

By:

Zaiou, M.;
El Amri, H.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 91, n. 3, p. 347, doi. 10.1111/cge.12936
Publication type:: Article

Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 349, doi. 10.1111/cge.12835

By:

Su, W.;
Zhu, P.;
Wang, R.;
Wu, Q.;
Wang, M.;
Zhang, X.;
Mei, L.;
Tang, J.;
Kumar, M.;
Wang, X.;
Su, L.;
Dong, N.

Publication type:

Article

Phenotypic variability and diffuse arterial lesions in a family with Loeys-Dietz syndrome type 4.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 458, doi. 10.1111/cge.12838

By:

Mazzella, J.‐M.;
Frank, M.;
Collignon, P.;
Langeois, M.;
Legrand, A.;
Jeunemaitre, X.;
Albuisson, J.

Publication type:

Article

Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 482, doi. 10.1111/cge.12824

By:

Apostolou, P.;
Pertesi, M.;
Aleporou‐Marinou, V.;
Dimitrakakis, C.;
Papadimitriou, C.;
Razis, E.;
Christodoulou, C.;
Fountzilas, G.;
Yannoukakos, D.;
Konstantopoulou, I.;
Fostira, F.

Publication type:

Article

Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 494, doi. 10.1111/cge.12822

By:

Ullah, A.;
Kalsoom, U.‐E;
Umair, M.;
John, P.;
Ansar, M.;
Basit, S.;
Ahmad, W.

Publication type:

Article

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 463, doi. 10.1111/cge.12839

By:

Stehlíková, K.;
Skálová, D.;
Zídková, J.;
Haberlová, J.;
Voháňka, S.;
Mazanec, R.;
Mrázová, L.;
Vondráček, P.;
Ošlejšková, H.;
Zámečník, J.;
Honzík, T.;
Zeman, J.;
Magner, M.;
Šišková, D.;
Langová, M.;
Gregor, V.;
Godava, M.;
Smolka, V.;
Fajkusová, L.

Publication type:

Article

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 431, doi. 10.1111/cge.12784

By:

Allou, L.;
Julia, S.;
Amsallem, D.;
El Chehadeh, S.;
Lambert, L.;
Thevenon, J.;
Duffourd, Y.;
Saunier, A.;
Bouquet, P.;
Pere, S.;
Moustaïne, A.;
Ruaud, L.;
Roth, V.;
Jonveaux, P.;
Philippe, C.

Publication type:

Article

Resistance to hypertension and high Cl<sup>−</sup> excretion in humans with SLC26A4 mutations.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 448, doi. 10.1111/cge.12789

By:

Kim, B.G.;
Yoo, T.‐H.;
Yoo, J.‐E.;
Seo, Y.J.;
Jung, J.;
Choi, J.Y.

Publication type:

Article

Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 470, doi. 10.1111/cge.12850

By:

Mahmud, A.A.;
Nahid, N.A.;
Nassif, C.;
Sayeed, M.S.B.;
Ahmed, M.U.;
Parveen, M.;
Khalil, M.I.;
Islam, M.M.;
Nahar, Z.;
Rypens, F.;
Hamdan, F.F.;
Rouleau, G.A.;
Hasnat, A.;
Michaud, J.L.

Publication type:

Article

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 411, doi. 10.1111/cge.12853

By:

Demirdas, S.;
Dulfer, E.;
Robert, L.;
Kempers, M.;
van Beek, D.;
Micha, D.;
van Engelen, B.G.;
Hamel, B.;
Schalkwijk, J.;
Loeys, B.;
Maugeri, A.;
Voermans, N.C.

Publication type:

Article

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 403, doi. 10.1111/cge.12826

By:

Park, H.J.;
Jang, H.;
Kim, J.H.;
Lee, J.H.;
Shin, H.Y.;
Kim, S.M.;
Park, K.D.;
Yim, S.‐V.;
Choi, Y.‐C.

Publication type:

Article

A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 371, doi. 10.1111/cge.12859

By:

Ram, R.;
Wakil, S.M.;
Muiya, N.P.;
Andres, E.;
Mazhar, N.;
Hagos, S.;
Alshahid, M.;
Meyer, B.F.;
Morahan, G.;
Dzimiri, N.

Publication type:

Article

mRNA-based detection of rare CFTR mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 476, doi. 10.1111/cge.12802

By:

Felício, V.;
Ramalho, A.S.;
Igreja, S.;
Amaral, M.D.

Publication type:

Article

Response to Matyas et al.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 502, doi. 10.1111/cge.12923

By:

Zhang, L.;
Wang, H.‐H.

Publication type:

Article

Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 426, doi. 10.1111/cge.12876

By:

Smith, C.;
Parboosingh, J.S.;
Boycott, K.M.;
Bönnemann, C.G.;
Mah, J.K.;
Lamont, R.E.;
Micheil Innes, A.;
Bernier, F.P.

Publication type:

Article

Next-generation sequencing of Chinese stage IV lung cancer patients reveals an association between EGFR mutation status and survival outcome.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 488, doi. 10.1111/cge.12809

By:

Li, F.;
Du, X.;
Zhang, H.;
Ju, T.;
Chen, C.;
Qu, Q.;
Zhang, X.;
Qi, L.;
Lizée, G.

Publication type:

Article

Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 499, doi. 10.1111/cge.12870

By:

Zaragoza, M.V.;
Hakim, S.A.;
Hoang, V.;
Elliott, A.M.

Publication type:

Article

A genetic risk score is significantly associated with statin therapy response in the elderly population.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 379, doi. 10.1111/cge.12890

By:

Ciuculete, D.M.;
Bandstein, M.;
Benedict, C.;
Waeber, G.;
Vollenweider, P.;
Lind, L.;
Schiöth, H.B.;
Mwinyi, J.

Publication type:

Article

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Published in:

Clinical Genetics, 2017, v. 91, n. 3, p. 441, doi. 10.1111/cge.12790

By:

Torraco, A.;
Bianchi, M.;
Verrigni, D.;
Gelmetti, V.;
Riley, L.;
Niceta, M.;
Martinelli, D.;
Montanari, A.;
Guo, Y.;
Rizza, T.;
Diodato, D.;
Di Nottia, M.;
Lucarelli, B.;
Sorrentino, F.;
Piemonte, F.;
Francisci, S.;
Tartaglia, M.;
Valente, E.M.;
Dionisi‐Vici, C.;
Christodoulou, J.

Publication type:

Article