Works matching IS 00099163 AND DT 2014 AND VI 85 AND IP 2

Results: 17

A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 1, doi. 10.1111/cge.12356

By:

Yan-Yan Ma;
Tong-Fei Wu;
Yu-Peng Liu;
Qiao Wang;
Xi-Yuan Li;
Yuan Ding;
Jin-Qing Song;
Yan-Ling Yang;
Li-Ping Zou

Publication type:

Article

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 138, doi. 10.1111/cge.12116

By:

Nowaczyk, M.J.M.;
Thompson, B.A.;
Zeesman, S.;
Moog, U.;
Sanchez‐Lara, P.A.;
Magoulas, P.L.;
Falk, R.E.;
Hoover‐Fong, J.E.;
Batista, D.A.S.;
Amudhavalli, S.M.;
White, S.M.;
Graham, G.E.;
Rauen, K.A.

Publication type:

Article

Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 120, doi. 10.1111/cge.12254

By:

Sapp, J.C.;
Dong, D.;
Stark, C.;
Ivey, L.E.;
Hooker, G.;
Biesecker, L.G.;
Biesecker, B.B.

Publication type:

Article

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 154, doi. 10.1111/cge.12133

By:

Bettencourt, C.;
López‐Sendón, J.L.;
García‐Caldentey, J.;
Rizzu, P.;
Bakker, I.M.C.;
Shomroni, O.;
Quintáns, B.;
Dávila, J.R.;
Bevova, M.R.;
Sobrido, M.‐J.;
Heutink, P.;
de Yébenes, J.G.

Publication type:

Article

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 201, doi. 10.1111/cge.12115

By:

Cappuccio, G.;
Ginocchio, V.M.;
Maffè, A.;
Ungari, S.;
Andria, G.;
Melis, D.

Publication type:

Article

Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 159, doi. 10.1111/cge.12114

By:

Magaña, J.J.;
Tapia‐Guerrero, Y.S.;
Velázquez‐Pérez, L.;
Cerecedo‐Zapata, C.M.;
Maldonado‐Rodríguez, M.;
Jano‐Ito, J.S.;
Leyva‐García, N.;
González‐Piña, R.;
Martínez‐Cruz, E.;
Hernández‐Hernández, O.;
Cisneros, B.

Publication type:

Article

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 194, doi. 10.1111/cge.12125

By:

Feberwee, H.E.;
Feenstra, I.;
Oberoi, S.;
Sama, I.E.;
Ockeloen, C.W.;
Clum, F.;
Slavotinek, A.;
Kuijpers, M.A.R.;
Dooijes, D.;
Kuijpers‐Jagtman, A.M.;
Kleefstra, T.;
Carels, C.E.L.

Publication type:

Article

Chromosomal microarray impacts clinical management.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 147, doi. 10.1111/cge.12107

By:

Riggs, E.R.;
Wain, K.E.;
Riethmaier, D.;
Smith‐Packard, B.;
Faucett, W.A.;
Hoppman, N.;
Thorland, E.C.;
Patel, V.C.;
Miller, D.T.

Publication type:

Article

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 166, doi. 10.1111/cge.12118

By:

Maselli, R.A.;
Arredondo, J.;
Nguyen, J.;
Lara, M.;
Ng, F.;
Ngo, M.;
Pham, J.M.;
Yi, Q.;
Stajich, J.M.;
McDonald, K.;
Hauser, M.A.;
Wollmann, R.L.

Publication type:

Article

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 172, doi. 10.1111/cge.12129

By:

M'hamdi, O.;
Redin, C.;
Stoetzel, C.;
Ouertani, I.;
Chaabouni, M.;
Maazoul, F.;
M'rad, R.;
Mandel, J.L.;
Dollfus, H.;
Muller, J.;
Chaabouni, H.

Publication type:

Article

Clinical features of Chinese patients with Huntington's disease carrying CAG repeats beyond 60 within HTT gene.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 189, doi. 10.1111/cge.12120

By:

Liu, Z.‐J.;
Sun, Y.‐M.;
Ni, W.;
Dong, Y.;
Shi, S.‐S.;
Wu, Z.‐Y.

Publication type:

Article

Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 198, doi. 10.1111/cge.12128

By:

Ngouprommin, L.;
Sae‐ung, N.;
Fucharoen, S.;
Fucharoen, G.;
Sanchaisuriya, K.;
Jetsrisuparb, A.

Publication type:

Article

Living with inborn errors of cholesterol biosynthesis: lessons from adult patients.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 184, doi. 10.1111/cge.12139

By:

Cardoso, M.L.;
Barbosa, M.;
Serra, D.;
Martins, E.;
Fortuna, A.;
Reis‐Lima, M.;
Bandeira, A.;
Balreira, A.;
Marques, F.

Publication type:

Article

Making headway with genetic diagnostics of intellectual disabilities.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 101, doi. 10.1111/cge.12244

By:

Willemsen, M.H.;
Kleefstra, T.

Publication type:

Article

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 178, doi. 10.1111/cge.12141

By:

Amrom, D.;
Tanyalçin, I.;
Verhelst, H.;
Deconinck, N.;
Brouhard, G.J.;
Décarie, J.‐C.;
Vanderhasselt, T.;
Das, S.;
Hamdan, F.F.;
Lissens, W.;
Michaud, J.L.;
Jansen, A.C.

Publication type:

Article

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 127, doi. 10.1111/cge.12112

By:

Shibbani, K.;
Fahed, A.C.;
Al‐Shaar, L.;
Arabi, M.;
Nemer, G.;
Bitar, F.;
Majdalani, M.

Publication type:

Article

Proteus syndrome review: molecular, clinical, and pathologic features.

Published in:

Clinical Genetics, 2014, v. 85, n. 2, p. 111, doi. 10.1111/cge.12266

By:

Cohen, M. Michael

Publication type:

Article