Works matching IS 00099163 AND DT 2016 AND VI 89 AND IP 4

Results: 21

ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 442, doi. 10.1111/cge.12617

By:

Xu, Y.;
Guan, L.;
Xiao, X.;
Zhang, J.;
Li, S.;
Jiang, H.;
Jia, X.;
Yin, Y.;
Guo, X.;
Wang, J.;
Zhang, Q.

Publication type:

Article

Genomic copy number alterations in non-syndromic hearing loss.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 473, doi. 10.1111/cge.12683

By:

Rosenberg, C.;
Freitas, É. L.;
Uehara, D. T.;
Auricchio, M. T. B. M.;
Costa, S. S.;
Oiticica, J.;
Silva, A. G.;
Krepischi, A. C.;
Mingroni‐Netto, R. C.

Publication type:

Article

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 478, doi. 10.1111/cge.12575

By:

Tan, C.A.;
Topper, S.;
del Gaudio, D.;
Nelakuditi, V.;
Shchelochkov, O.;
Nowaczyk, M.J.M.;
Zeesman, S.;
Brady, L.;
Russell, L.;
Meeks, N.;
Sastry, S.;
Arndt, K.;
Kobiernicki, F.;
Shaw, R.;
Das, S.

Publication type:

Article

Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 507, doi. 10.1111/cge.12684

By:

Branfield Day, L.;
Quammie, C.;
Héon, E.;
Bhan, A.;
Batmanabane, V.;
Dai, T.;
Kamath, B.M.

Publication type:

Article

Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 489, doi. 10.1111/cge.12642

By:

Borgwardt, L.;
Danielsen, E.R.;
Thomsen, C.;
Månsson, J.E.;
Taouatas, N.;
Thuesen, A.M.;
Olsen, K.J.;
Fogh, J.;
Dali, C.I.;
Lund, A.M.

Publication type:

Article

Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 454, doi. 10.1111/cge.12644

By:

Goyal, S.;
Jäger, M.;
Robinson, P.N.;
Vanita, V.

Publication type:

Article

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 510, doi. 10.1111/cge.12645

By:

Nikopoulos, K.;
Butt, G. U.;
Farinelli, P.;
Mudassar, M.;
Domènech‐Estévez, E.;
Samara, C.;
Kausar, M.;
Masroor, I.;
Chrast, R.;
Rivolta, C.;
Siddiqi, S.

Publication type:

Article

COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 512, doi. 10.1111/cge.12649

By:

Laššuthová, P.;
Beharka, R.;
Krůtová, M.;
Neupauerová, J.;
Seeman, P.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 89, n. 4, p. 401, doi. 10.1111/cge.12662
Publication type:: Article

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 426, doi. 10.1111/cge.12614

By:

Kerr, E. N.;
Bhan, A.;
Héon, E.

Publication type:

Article

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 495, doi. 10.1111/cge.12633

By:

Hitchcock, E.;
Patankar, J.V.;
Tyson, C.;
Hrynchak, M.;
Hayden, M.R.;
Gibson, W.T.

Publication type:

Article

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 501, doi. 10.1111/cge.12688

By:

Avila, M.;
Dyment, D.A.;
Sagen, J.V.;
St‐Onge, J.;
Moog, U.;
Chung, B.H.Y.;
Mo, S.;
Mansour, S.;
Albanese, A.;
Garcia, S.;
Martin, D.O.;
Lopez, A.A.;
Claudi, T.;
König, R.;
White, S.M.;
Sawyer, S.L.;
Bernstein, J.A.;
Slattery, L.;
Jobling, R.K.;
Yoon, G.

Publication type:

Article

Hearing loss in Waardenburg syndrome: a systematic review.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 416, doi. 10.1111/cge.12631

By:

Song, J.;
Feng, Y.;
Acke, F.R.;
Coucke, P.;
Vleminckx, K.;
Dhooge, I.J.

Publication type:

Article

Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 484, doi. 10.1111/cge.12621

By:

Seong, M.‐W.;
Cho, A.;
Park, H.W.;
Seo, S.H.;
Lim, B.C.;
Seol, D.;
Cho, S.I.;
Park, S.S.;
Chae, J.H.

Publication type:

Article

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 403, doi. 10.1111/cge.12635

By:

Mussa, A.;
Russo, S.;
Larizza, L.;
Riccio, A.;
Ferrero, G.B.

Publication type:

Article

Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 515, doi. 10.1111/cge.12650

By:

Mhanni, A.A.;
Hartley, J.N.;
Harward, E.;
Spriggs, E.;
Booth, F.

Publication type:

Article

Genetic evaluation of patients with Alström syndrome in the Polish population.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 448, doi. 10.1111/cge.12656

By:

Zmyslowska, A.;
Borowiec, M.;
Antosik, K.;
Ploski, R.;
Ciechanowska, M.;
Iwaniszewska, B.;
Jakubiuk‐Tomaszuk, A.;
Janczyk, W.;
Krawczynski, M.;
Salmonowicz, B.;
Stelmach, M.;
Mlynarski, W.

Publication type:

Article

A Mayan founder mutation is a common cause of deafness in Guatemala.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 461, doi. 10.1111/cge.12676

By:

Carranza, C.;
Menendez, I.;
Herrera, M.;
Castellanos, P.;
Amado, C.;
Maldonado, F.;
Rosales, L.;
Escobar, N.;
Guerra, M.;
Alvarez, D.;
Foster, J.;
Guo, S.;
Blanton, S.H.;
Bademci, G.;
Tekin, M.

Publication type:

Article

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 466, doi. 10.1111/cge.12677

By:

Moteki, H.;
Azaiez, H.;
Booth, K.T.;
Shearer, A.E.;
Sloan, C. M.;
Kolbe, D.L.;
Nishio, S.;
Hattori, M.;
Usami, S.;
Smith, R.J.H.

Publication type:

Article

Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 517, doi. 10.1111/cge.12678

By:

Moosa, S.;
Chung, B. H.‐Y.;
Tung, J. Y.‐L.;
Altmüller, J.;
Thiele, H.;
Nürnberg, P.;
Netzer, C.;
Nishimura, G.;
Wollnik, B.

Publication type:

Article

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 434, doi. 10.1111/cge.12623

By:

Haghighi, A.;
Kavehmanesh, Z.;
Salehzadeh, F.;
Santos‐Simarro, F.;
Van Maldergem, L.;
Cimbalistiene, L.;
Collins, F.;
Chopra, M.;
Al‐Sinani, S.;
Dastmalchian, S.;
de Silva, D.C.;
Bakhti, H.;
Garg, A.;
Hilbert, P.

Publication type:

Article