Works matching IS 00099163 AND DT 2017 AND VI 91 AND IP 4

Results: 18

Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 623, doi. 10.1111/cge.12878

By:

Xin, B.;
Cruz Marino, T.;
Szekely, J.;
Leblanc, J.;
Cechner, K.;
Sency, V.;
Wensel, C.;
Barabas, M.;
Therriault, V.;
Wang, H.

Publication type:

Article

Emerging roles of RAC1 in treating lung cancer patients.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 520, doi. 10.1111/cge.12908

By:

Zou, T.;
Mao, X.;
Yin, J.;
Li, X.;
Chen, J.;
Zhu, T.;
Li, Q.;
Zhou, H.;
Liu, Z.

Publication type:

Article

A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 629, doi. 10.1111/cge.12891

By:

Al Mutairi, F.;
Shamseldin, H.E.;
Alfadhel, M.;
Rodenburg, R.J.;
Alkuraya, F.S.

Publication type:

Article

Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 507, doi. 10.1111/cge.12904

By:

Wimmer, K.;
Rosenbaum, T.;
Messiaen, L.

Publication type:

Article

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 599, doi. 10.1111/cge.12834

By:

Shi, L.;
Webb, B.D.;
Birch, A.H.;
Elkhoury, L.;
McCarthy, J.;
Cai, X.;
Oishi, K.;
Mehta, L.;
Diaz, G.A.;
Edelmann, L.;
Kornreich, R.

Publication type:

Article

Clinical application of whole-genome low-coverage next-generation sequencing to detect and characterize balanced chromosomal translocations.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 605, doi. 10.1111/cge.12844

By:

Liang, D.;
Wang, Y.;
Ji, X.;
Hu, H.;
Zhang, J.;
Meng, L.;
Lin, Y.;
Ma, D.;
Jiang, T.;
Jiang, H.;
Asan;
Song, L.;
Guo, J.;
Hu, P.;
Xu, Z.

Publication type:

Article

The promoter polymorphisms of receptor for advanced glycation end products were associated with the susceptibility and progression of sepsis.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 564, doi. 10.1111/cge.12800

By:

Shao, Y.;
Shao, X.;
He, J.;
Cai, Y.;
Zhao, J.;
Chen, F.;
Tao, H.;
Yin, Z.;
Tan, X.;
He, Y.;
Lin, Y.;
Li, K.;
Cui, L.

Publication type:

Article

EMR documentation of physician-patient communication following genomic counseling for actionable complex disease and pharmacogenomic results.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 545, doi. 10.1111/cge.12820

By:

Sweet, K.;
Sturm, A.C.;
Schmidlen, T.;
Hovick, S.;
Peng, J.;
Manickam, K.;
Salikhova, A.;
McElroy, J.;
Scheinfeldt, L.;
Toland, A.E.;
Roberts, J.S.;
Christman, M.

Publication type:

Article

BRCA1 and BRCA2 mutation testing in Cyprus; a population based study.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 611, doi. 10.1111/cge.12886

By:

Loizidou, M.A.;
Hadjisavvas, A.;
Pirpa, P.;
Spanou, E.;
Delikurt, T.;
Tanteles, G.A.;
Daniel, M.;
Kountourakis, P.;
Malas, S.;
Ioannidis, G.;
Zouvani, I.;
Kakouri, E.;
Papamichael, D.;
Marcou, Y.;
Anastasiadou, V.;
Kyriacou, K.

Publication type:

Article

Expanding the clinical picture of the MECP2 Duplication syndrome.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 557, doi. 10.1111/cge.12814

By:

Lim, Z.;
Downs, J.;
Wong, K.;
Ellaway, C.;
Leonard, H.

Publication type:

Article

Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 640, doi. 10.1111/cge.12924

By:

Peña ‐ Padilla, C.;
Marshall, C.R.;
Walker, S.;
Scherer, S.W.;
Tavares ‐ Macías, G.;
Razo ‐ Jiménez, G.;
Bobadilla ‐ Morales, L.;
Acosta ‐ Fernández, E.;
Corona ‐ Rivera, A.;
Mendoza ‐ Londono, R.;
Corona ‐ Rivera, J. R.

Publication type:

Article

Genetic causes of moderate to severe hearing loss point to modifiers.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 589, doi. 10.1111/cge.12856

By:

Naz, S.;
Imtiaz, A.;
Mujtaba, G.;
Maqsood, A.;
Bashir, R.;
Bukhari, I.;
Khan, M.R.;
Ramzan, M.;
Fatima, A.;
Rehman, A.U.;
Iqbal, M.;
Chaudhry, T.;
Lund, M.;
Brewer, C.C.;
Morell, R.J.;
Friedman, T.B.

Publication type:

Article

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 529, doi. 10.1111/cge.12873

By:

Cassiman, C.;
Casteels, I.;
Jacob, J.;
Plasschaert, E.;
Brems, H.;
Dubron, K.;
Keer, K.V.;
Legius, E.

Publication type:

Article

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 634, doi. 10.1111/cge.12894

By:

Dai, H.;
Zhang, V.W.;
El ‐ Hattab, A.W.;
Ficicioglu, C.;
Shinawi, M.;
Lines, M.;
Schulze, A.;
McNutt, M.;
Gotway, G.;
Tian, X.;
Chen, S.;
Wang, J.;
Craigen, W.J.;
Wong, L. ‐ J.

Publication type:

Article

Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 536, doi. 10.1111/cge.12843

By:

Hoekstra, A.S.;
Ende, B.;
Julià, X.P.;
Breemen, L.;
Scheurwater, K.;
Tops, C.M.;
Malinoc, A.;
Devilee, P.;
Neumann, H.P.H.;
Bayley, J. ‐ P.

Publication type:

Article

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 576, doi. 10.1111/cge.12898

By:

El Chehadeh, S.;
Touraine, R.;
Prieur, F.;
Reardon, W.;
Bienvenu, T.;
Chantot ‐ Bastaraud, S.;
Doco ‐ Fenzy, M.;
Landais, E.;
Philippe, C.;
Marle, N.;
Callier, P.;
Mosca ‐ Boidron, A. ‐ L.;
Mugneret, F.;
Le Meur, N.;
Goldenberg, A.;
Guerrot, A. ‐ M.;
Chambon, P.;
Satre, V.;
Coutton, C.;
Jouk, P. ‐ S.

Publication type:

Article

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

Published in:

2017

By:

Boyle, M.I.;
Jespersgaard, C.;
Nazaryan, L.;
Bisgaard, A. ‐ M.;
Tümer, Z.

Publication type:

Case Study

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.

Published in:

Clinical Genetics, 2017, v. 91, n. 4, p. 616, doi. 10.1111/cge.12872

By:

Alabdullatif, M.A.;
Al Dhaibani, M.A.;
Khassawneh, M.Y.;
El ‐ Hattab, A.W.

Publication type:

Article