Works matching IS 00099163 AND DT 2017 AND VI 91 AND IP 5

Results: 18

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2017, v. 91, n. 5, p. 651, doi. 10.1111/cge.12938
Publication type:: Article

Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 653, doi. 10.1111/cge.12928

By:

Fukami, M.;
Shima, H.;
Suzuki, E.;
Ogata, T.;
Matsubara, K.;
Kamimaki, T.

Publication type:

Article

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 697, doi. 10.1111/cge.12861

By:

Cohen, J.S.;
Srivastava, S.;
Farwell Hagman, K.D.;
Shinde, D.N.;
Huether, R.;
Darcy, D.;
Wallerstein, R.;
Houge, G.;
Berland, S.;
Monaghan, K.G.;
Poretti, A.;
Wilson, A.L.;
Chung, W.K.;
Fatemi, A.

Publication type:

Article

Phenotypic and genotypic characterization of Chinese children diagnosed with tuberous sclerosis complex.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 764, doi. 10.1111/cge.12920

By:

Yang, G.;
Shi, Z.N.;
Meng, Y.;
Shi, X.Y.;
Pang, L.Y.;
Ma, S.F.;
Zhang, M.N.;
Wang, Y.Y.;
Zou, L.P.

Publication type:

Article

Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 787, doi. 10.1111/cge.12927

By:

Dvorakova, L.;
Vlaskova, H.;
Sarajlija, A.;
Ramadza, D. P.;
Poupetova, H.;
Hruba, E.;
Hlavata, A.;
Bzduch, V.;
Peskova, K.;
Storkanova, G.;
Kecman, B.;
Djordjevic, M.;
Baric, I.;
Fumic, K.;
Barisic, I.;
Reboun, M.;
Kulhanek, J.;
Zeman, J.;
Magner, M.

Publication type:

Article

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 756, doi. 10.1111/cge.12854

By:

Webster, R.;
Cho, M.T.;
Retterer, K.;
Millan, F.;
Nowak, C.;
Douglas, J.;
Ahmad, A.;
Raymond, G.V.;
Johnson, M.R.;
Pujol, A.;
Begtrup, A.;
McKnight, D.;
Devinsky, O.;
Chung, W.K.

Publication type:

Article

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 690, doi. 10.1111/cge.12855

By:

Shahrour, M.A.;
Staretz‐Chacham, O.;
Dayan, D.;
Stephen, J.;
Weech, A.;
Damseh, N.;
Pri Chen, H.;
Edvardson, S.;
Mazaheri, S.;
Saada, A.;
Hershkovitz, E.;
Shaag, A.;
Huizing, M.;
Abu‐Libdeh, B.;
Gahl, W.A;
Azem, A.;
Anikster, Y.;
Vilboux, T.;
Elpeleg, O.;
Malicdan, M.C.

Publication type:

Article

Association of genetic polymorphisms of de novo nucleotide biosynthesis with increased CHD susceptibility in the northern Chinese population.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 748, doi. 10.1111/cge.12874

By:

Jiang, Y.‐C.;
Kuang, L.‐L.;
Sun, S.‐N.;
Duan, W.‐Y.;
Qiao, B.;
Wang, H.‐Y.

Publication type:

Article

BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 739, doi. 10.1111/cge.12887

By:

Jee, Y.H.;
Sowada, N.;
Markello, T.C.;
Rezvani, I.;
Borck, G.;
Baron, J.

Publication type:

Article

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 780, doi. 10.1111/cge.12888

By:

Garibaldi, M.;
Fattori, F.;
Riva, B.;
Labasse, C.;
Brochier, G.;
Ottaviani, P.;
Sacconi, S.;
Vizzaccaro, E.;
Laschena, F.;
Romero, N.B.;
Genazzani, A.;
Bertini, E.;
Antonini, G.

Publication type:

Article

Evaluation of a population-based approach to familial colorectal cancer.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 672, doi. 10.1111/cge.12877

By:

Parfrey, P.S.;
Dicks, E.;
Parfrey, O.;
McNicholas, P.J.;
Noseworthy, H.;
Woods, M.O.;
Negriin, C.;
Green, J.

Publication type:

Article

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 708, doi. 10.1111/cge.12884

By:

Kernohan, K.D.;
McBride, A.;
Xi, Y.;
Martin, N.;
Schwartzentruber, J.;
Dyment, D.A.;
Majewski, J.;
Blaser, S.;
Boycott, K.M.;
Chitayat, D.

Publication type:

Article

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 683, doi. 10.1111/cge.12823

By:

Savastano, C.P.;
Brito, L.A.;
Faria, Á.C.;
Setó‐Salvia, N.;
Peskett, E.;
Musso, C.M.;
Alvizi, L.;
Ezquina, S.A.M.;
James, C.;
GOSgene;
Beales, P.;
Lees, M.;
Moore, G.E.;
Stanier, P.;
Passos‐Bueno, M.R.

Publication type:

Article

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 774, doi. 10.1111/cge.12845

By:

Piceci, F.;
Morlino, S.;
Castori, M.;
Buffone, E.;
De Luca, A.;
Grammatico, P.;
Guida, V.

Publication type:

Article

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 661, doi. 10.1111/cge.12848

By:

Dworschak, G.C.;
Crétolle, C.;
Hilger, A.;
Engels, H.;
Korsch, E.;
Reutter, H.;
Ludwig, M.

Publication type:

Article

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 725, doi. 10.1111/cge.12914

By:

Pode‐Shakked, B.;
Barash, H.;
Ziv, L.;
Gripp, K.W.;
Flex, E.;
Barel, O.;
Carvalho, K.S.;
Scavina, M.;
Chillemi, G.;
Niceta, M.;
Eyal, E.;
Kol, N.;
Ben‐Zeev, B.;
Bar‐Yosef, O.;
Marek‐Yagel, D.;
Bertini, E.;
Duker, A.L.;
Anikster, Y.;
Tartaglia, M.;
Raas‐Rothschild, A.

Publication type:

Article

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 769, doi. 10.1111/cge.12831

By:

Rydzanicz, M.;
Jagła, M.;
Kosinska, J.;
Tomasik, T.;
Sobczak, A.;
Pollak, A.;
Herman‐Sucharska, I.;
Walczak, A.;
Kwinta, P.;
Płoski, R.

Publication type:

Article

Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

Published in:

Clinical Genetics, 2017, v. 91, n. 5, p. 717, doi. 10.1111/cge.12901

By:

Zhang, Q.;
Li, J.;
Zhao, Y.;
Bao, X.;
Wei, L.;
Wang, J.

Publication type:

Article