Detalhe da pesquisa
1.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
2.
Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa.
Int Ophthalmol
; 40(9): 2159-2168, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32358734
3.
Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
Adv Exp Med Biol
; 1185: 221-226, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884615
4.
Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients.
Klin Monbl Augenheilkd
; 236(4): 562-567, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30646425
5.
Complement Component C3 Variant (R102G) and the Risk of Neovascular Age-Related Macular Degeneration in a Tunisian Population.
Klin Monbl Augenheilkd
; 234(4): 478-482, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28470643
6.
Correction: Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients.
Klin Monbl Augenheilkd
; 2019 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30769346
7.
OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant.
Eur J Ophthalmol
; 32(4): NP98-NP102, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33736480
8.
Interleukin-18 gene polymorphisms in tunisian patients with inflammatory bowel disease.
Digestion
; 83(4): 269-74, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21273776
9.
Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography.
Genes (Basel)
; 12(11)2021 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828401
10.
Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.
Tunis Med
; 99(2): 302-305, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33899203
11.
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.
Front Cell Dev Biol
; 9: 625560, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33634125
12.
Genetic spectrum of retinal dystrophies in Tunisia.
Sci Rep
; 10(1): 11199, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32641690
13.
Correction: Habibi I. et al. "Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)" Genes, 2019, 10, 953.
Genes (Basel)
; 11(5)2020 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32375275
14.
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Genes (Basel)
; 10(12)2019 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31766397
15.
Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations.
J Ophthalmol
; 2018: 1030184, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736279
16.
Identifying mutations in Tunisian families with retinal dystrophy.
Sci Rep
; 6: 37455, 2016 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27874104
17.
Vascular endothelial growth factor genetic polymorphisms and susceptibility to age-related macular degeneration in Tunisian population.
Biomark Res
; 2: 15, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25165559
18.
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa.
Ophthalmic Genet
; 38(5): 494-497, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28095122
19.
Corrigendum: Identifying mutations in Tunisian families with retinal dystrophy.
Sci Rep
; 7: 46776, 2017 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471455
20.
Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families.
Int J Nephrol Renovasc Dis
; 3: 85-92, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21694933