Works matching IS 00099163 AND DT 2017 AND VI 92 AND IP 4

Results: 17

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 444, doi. 10.1111/cge.13000

By:

Luyckx, I.;
Proost, D.;
Hendriks, J.M.H.;
Saenen, J.;
Van Craenenbroeck, E.M.;
Vermeulen, T.;
Peeters, N.;
Wuyts, W.;
Rodrigus, I.;
Verstraeten, A.;
Van Laer, L.;
Loeys, B.L.

Publication type:

Article

Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 380, doi. 10.1111/cge.12979

By:

van den Boogaard, M.L.;
Thijssen, P.E.;
Aytekin, C.;
Licciardi, F.;
Kıykım, A.A.;
Spossito, L.;
Dalm, V.A.S.H.;
Driessen, G.J.;
Kersseboom, R.;
de Vries, F.;
van Ostaijen‐ten Dam, M.M.;
Ikinciogullari, A.;
Dogu, F.;
Oleastro, M.;
Bailardo, E.;
Daxinger, L.;
Nain, E.;
Baris, S.;
van Tol, M.J.D.;
Weemaes, C.

Publication type:

Article

Novel founder mutation in French-Canadian families with Naxos disease.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 451, doi. 10.1111/cge.12971

By:

Marino, T. Cruz;
Maranda, B.;
Leblanc, J.;
Pratte, A.;
Barabas, M.;
Dupéré, A.;
Lévesque, S.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 92, n. 4, p. 353, doi. 10.1111/cge.12943
Publication type:: Article

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 423, doi. 10.1111/cge.12982

By:

Zarate, Y.A.;
Kalsner, L.;
Basinger, A.;
Jones, J.R.;
Li, C.;
Szybowska, M.;
Xu, Z.L.;
Vergano, S.;
Caffrey, A.R.;
Gonzalez, C.V.;
Dubbs, H.;
Zackai, E.;
Millan, F.;
Telegrafi, A.;
Baskin, B.;
Person, R.;
Fish, J.L.;
Everman, D.B.

Publication type:

Article

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 440, doi. 10.1111/cge.13005

By:

Fontana, P.;
Grasso, M.;
Acquaviva, F.;
Gennaro, E.;
Galli, M.L.;
Falco, M.;
Scarano, F.;
Scarano, G.;
Lonardo, F.

Publication type:

Article

Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 430, doi. 10.1111/cge.12995

By:

Helbig, K.L.;
Mroske, C.;
Moorthy, D.;
Sajan, S.A.;
Velinov, M.

Publication type:

Article

The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 434, doi. 10.1111/cge.12997

By:

Oliveira, J.;
Martins, M.;
Pinto Leite, R.;
Sousa, M.;
Santos, R.

Publication type:

Article

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 415, doi. 10.1111/cge.13009

By:

Di Gregorio, E.;
Riberi, E.;
Belligni, E.F.;
Biamino, E.;
Spielmann, M.;
Ala, U.;
Calcia, A.;
Bagnasco, I.;
Carli, D.;
Gai, G.;
Giordano, M.;
Guala, A.;
Keller, R.;
Mandrile, G.;
Arduino, C.;
Maffè, A.;
Naretto, V.G.;
Sirchia, F.;
Sorasio, L.;
Ungari, S.

Publication type:

Article

DEPDC5 mutations in familial and sporadic focal epilepsy.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 397, doi. 10.1111/cge.12992

By:

Tsai, M.‐H.;
Chan, C.‐K.;
Chang, Y.‐C.;
Yu, Y.‐T.;
Chuang, S.‐T.;
Fan, W.‐L.;
Li, S.‐C.;
Fu, T.‐Y.;
Chang, W.‐N.;
Liou, C.‐W.;
Chuang, Y.‐C.;
Ng, C.‐C.;
Hwang, D.‐Y.;
Lim, K.‐S.

Publication type:

Article

Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 405, doi. 10.1111/cge.12994

By:

Hansen, Maren F.;
Johansen, Jostein;
Sylvander, Anna E.;
Bjørnevoll, Inga;
Talseth‐Palmer, Bente A.;
Lavik, Liss A. S.;
Xavier, Alexandre;
Engebretsen, Lars F.;
Scott, Rodney J.;
Drabløs, Finn;
Sjursen, Wenche

Publication type:

Article

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 388, doi. 10.1111/cge.12988

By:

Santana, L.S.;
Caetano, L.A.;
Costa‐Riquetto, A.D.;
Quedas, E.P.S.;
Nery, M.;
Collett‐Solberg, P.;
Boguszewski, M.C.S.;
Vendramini, M.F.;
Crisostomo, L.G.;
Floh, F.O.;
Zarabia, Z.I.;
Kohara, S.K.;
Guastapaglia, L.;
Passone, C.G.B.;
Sewaybricker, L.E.;
Jorge, A.A.L.;
Teles, M.G.

Publication type:

Article

Systematic approach to understanding the pathogenesis of systemic sclerosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 365, doi. 10.1111/cge.12946

By:

Zuo, Xiaoxia;
Zhang, Lihua;
Luo, Hui;
Li, Yisha;
Zhu, Honglin

Publication type:

Article

Deletion of the transcription factor SOX4 is implicated in syndromic nephroblastoma.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 449, doi. 10.1111/cge.12977

By:

Trimouille, A.;
Barouk‐Simonet, E.;
Charron, S.;
Bouron, J.;
Bernhard, J.‐C.;
Lacombe, D.;
Fergelot, P.;
Rooryck, C.

Publication type:

Article

Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 372, doi. 10.1111/cge.12978

By:

Ozyilmaz, B.;
Kirbiyik, O.;
Koc, A.;
Ozdemir, T.R.;
Kaya, O.O.;
Guvenc, M.S.;
Erdoğan, K.M.;
Kutbay, Y.B.

Publication type:

Article

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 447, doi. 10.1111/cge.13016

By:

McGovern, M.;
Flanagan, O.;
Lynch, B.;
Lynch, S.A.;
Allen, N.M.

Publication type:

Article

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.

Published in:

Clinical Genetics, 2017, v. 92, n. 4, p. 355, doi. 10.1111/cge.12954

By:

Santoro, M.;
Masciullo, M.;
Silvestri, G.;
Novelli, G.;
Botta, A.

Publication type:

Article