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

Results: 18

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
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
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
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
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
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
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
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
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
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
Issue Information - Editorial Board.
Published in:
Clinical Genetics, 2017, v. 91, n. 5, p. 651, doi. 10.1111/cge.12938
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
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
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
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