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Isolated hereditary congenital ptosis can be caused by defects of craniofacial development 4.3 Poster 2016 Di Gioia, Silvio Alessandro; Chan, Wai Man; Barry, Brenda; DE BERARDINIS, Teresa; Magli, Adriano; Pavone, Piero; Engle, Elizabeth
Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 1.1 Articolo in rivista 2013 Roberto Di, Fabio; Giovanna, Comanducci; Francesca, Piccolo; Filippo Maria, Santorelli; DE BERARDINIS, Teresa; Alessandra, Tessa; Umberto, Sabatini; Francesco, Pierelli; Carlo, Casali
Molecular and clinical characterization of albinism in a large cohort of Italian patients. 1.1 Articolo in rivista 2011 Gargiulo, A; Testa, F; Rossi, S; Di Iorio, V; Fecarotta, S; DE BERARDINIS, Teresa; Iovine, A; Magli, A; Signorini, S; Fazzi, E; Galantuomo, Ms; Fossarello, M; Montefusco, S; Ciccodicola, A; Neri, A; Macaluso, C; Simonelli, F; Surace, Enrico Maria
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 1.1 Articolo in rivista 2010 Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C.
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance. 1.1 Articolo in rivista 2010 Tischfield, Ma; Baris, Hn; Wu, C; Rudolph, G; Van Maldergem, L; He, W; Chan, Wm; Andrews, C; Demer, Jl; Robertson, Rl; Mackey, Da; Ruddle, Jb; Bird, Td; Gottlob, I; Pieh, C; Traboulsi, Ei; Pomeroy, Sl; Hunter, Dg; Soul, Js; Newlin, A; Sabol, Lj; Doherty, Ej; de Uzcátegui, Ce; de Uzcátegui, N; Collins, Ml; Sener, Ec; Wabbels, B; Hellebrand, H; Meitinger, T; DE BERARDINIS, Teresa; Magli, Adriano; Schiavi, C; Pastore Trossello, M; Koc, F; Wong, Am; Levin, Av; Geraghty, Mt; Descartes, M; Flaherty, M; Jamieson, Rv; Møller, Hu; Meuthen, I; Callen, Df; Kerwin, J; Lindsay, S; Meindl, A; Gupta ML, Jr; Pellman, D; Engle, E. C.
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. 1.1 Articolo in rivista 2008 Ginocchio, V. M.; DE BRASI, D.; Genesio, R.; Ciccone, R.; Gimelli, S.; Fimiani, F.; DE BERARDINIS, Teresa; Nitsch, Lucio; Banfi, S.; Magli, Adriano; DELLA CASA, Roberto
Analysis of foveation duration and repeatability at different gaze positions in patients affected by congenital nystagmus. 4.1 Articoli in Atti di convegno 2007 Cesarelli, M.; Bifulco, P.; Romano, M.; Pasquariello, G.; Fratini, A.; Loffredo, L.; Magli, A.; DE BERARDINIS, Teresa
IDENTIFICATION OF KIF21A MUTATIONS AS A RARE CAUSE OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES TYPE 3 (CFEOM3). 1.1 Articolo in rivista 2004 Yamada, K; Chan, Wm; Andrews, C; Bosley, Tm; Sener, Ec; Zwaan, Jt; Mullaney, Pb; Ozturk, Bt; Akarsu, An; Sabol, Lj; Demer, Jl; Sullivan, Tj; Gottlob, I; Roggenkaemper, P; Mackey, Da; DE UZCATEGUI, Ce; Uzcategui, N; BEN ZEEV, B; Traboulsi, Ei; Magli, A; DE BERARDINIS, Teresa; Gagliardi, V; AWASTHI PATNEY, S; Vogel, Mc; RIZZO JF, Rd; Engle, E. C.; Jul, INVEST OPHTHALMOL VIS S. C. I.; .,
Clinical and surgical data of affected members of a classic CFEOM 1 family. 1.1 Articolo in rivista 2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
Clinical and surgical data of affected members of a classic CFEOM 1 family. 1.1 Articolo in rivista 2003 Magli, Adriano; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 1.1 Articolo in rivista 2003 Yamada, K; Andrews, C; Chan, Wm; Mckeown, Ca; Magli, A; DE BERARDINIS, Teresa; Loewenstein, A; Lazar, M; O'Keefe, M; Letson, R; London, A; Ruttum, M; Matsumoto, N; Saito, N; Morris, L; DEL MONTE, M; Johnson, Rh; Uyama, E; Houtman, Wa; DE VRIES, B; Carlow, Tj; Hart, Bl; Krawiecki, N; Shoffner, J; Vogel, Mc; Katowitz, J; Goldstein, Sm; Levin, Av; Sener, Ec; Ozturk, Bt; Akarsu, An; Brodsky, Mc; Hanisch, F; Cruse, Rp; Zubcov, Aa; Robb, Rm; Roggenkaemper, P; Gottlob, I; Kowal, L; Battu, R; Traboulsi, Ei; Franceschini, P; Newlin, A; Demer, Jl; Engle, E. C.
Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family. 4.1 Articoli in Atti di convegno 2003 DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; A., Magli
Clinical and surgical data of affected members of a classic CFEOM 1 family. 1.1 Articolo in rivista 2003 Magli, A; DE BERARDINIS, Teresa; D'Esposito, F; Gagliardi, V.; DIPARTIMENTO DI SCIENZE OFTALMOLOGICHE FACOLTA DI MEDICINA, E. CHIRURGIA UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO I. I.
Clinical and genetic data of two (classic) CFEOM1 families and one atypical CFEOM family. 4.1 Articoli in Atti di convegno 2003 DE BERARDINIS, Teresa; V., Gagliardi; C., Andrews; E. C., Engle; Magli, Adriano
Treatment of blepharospasm with botulinum neurotoxin type A: long-term results. 1.1 Articolo in rivista 2003 Calace, P; Cortese, G; Piscopo, R; DELLA VOLPE, G; Gagliardi, V; Magli, A; DE BERARDINIS, Teresa; DEPARTMENT OF OPHTHALMOLOGIC, Sciences; FACULTY OF MEDICINE AND, Surgery; UNIVERSITY FEDERICO, Ii; Napoli, Italy
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 1.1 Articolo in rivista 2002 ENGLE EC MCINTOSH N. YAMADA K. LEE BA JOHNSON R. O'KEEFE M. LETSON R., LONDON A; Magli, Adriano; DE BERARDINIS, Teresa
: BMC Genet. 2002;3(1):3. Epub 2002 Mar 06. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 1.1 Articolo in rivista 2002 Engle, Ec; Mcintosh, N; Yamada, K; Lee, Ba; Johnson, R; O'Keefe, M; Letson, R; London, A; Ballard, E; Ruttum, M; Matsumoto, N; Saito, N; Collins, Ml; Morris, L; DEL MONTE, M; Magli, A; DE BERARDINIS, Teresa; DIVISION OF, Genetics; Childrens, Hospital; Boston, Ma; U. S., A.
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 1.1 Articolo in rivista 2002 Engle, Ec; Mcintosh, N; Yamada, K; Lee, Ba; Johnson, R; O'Keefe, M; Letson, R; London, A; Ballard, E; Ruttum, M; Matsumoto, N; Saito, N; Collins, Ml; Morris, L; Del Monte, M; Magli, A; DE BERARDINIS, Teresa
Surgical treatment of ptosis in chronic progressive external ophthalmoplegia. 4.1 Articoli in Atti di convegno 2001 V., Gagliardi; P., Calace; DE BERARDINIS, Teresa; P., Vassallo; M., CAPASSO BARBATO; Magli, Adriano
Genetic, clinical and surgical data of affected members of a classic CFEOM 1 family 4.1 Articoli in Atti di convegno 2001 Magli, Adriano; DE BERARDINIS, Teresa; N., Mcintosh; E. C., Engle; G. M., Greco
Mostrati risultati da 1 a 20 di 35
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