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

Results: 21

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
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
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
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
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
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
(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
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
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