Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Hoai Viet Tran"'
Autor:
Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran
Publikováno v:
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 230-237 (2024)
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disord
Externí odkaz:
https://doaj.org/article/0860ff5ddc024d86ada8fe8cf5af697c
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Imen Habibi, Yosra Falfoul, Hoai Viet Tran, Khaled El Matri, Ahmed Chebil, Leila El Matri, Daniel F. Schorderet
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to esta
Externí odkaz:
https://doaj.org/article/9476dbf46f8c44d281df67af7e5ad36f
Autor:
Martial Mbefo, Adeline Berger, Karine Schouwey, Xavier Gérard, Corinne Kostic, Avigail Beryozkin, Dror Sharon, Hélène Dolfuss, Francis Munier, Hoai Viet Tran, Maarten van Lohuizen, William A. Beltran, Yvan Arsenijevic
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 17, p 9331 (2021)
Inherited retinal dystrophies (IRD) are due to various gene mutations. Each mutated gene instigates a specific cell homeostasis disruption, leading to a modification in gene expression and retinal degeneration. We previously demonstrated that the pol
Externí odkaz:
https://doaj.org/article/b7054447bc3e4f43884792f9ce249130
Autor:
Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32330 (2012)
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the preva
Externí odkaz:
https://doaj.org/article/ab358eecd7e74aa495b458512900acef
Autor:
Yvan Arsenijevic, Maarten van Lohuizen, Dror Sharon, Francis L. Munier, Karine Schouwey, Adeline Berger, Martial Mbefo, Corinne Kostic, William A. Beltran, Hélène Dolfuss, Avigail Beryozkin, Xavier Gérard, Hoai Viet Tran
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9331, p 9331 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 17
International journal of molecular sciences, vol. 22, no. 17, pp. 9331
International Journal of Molecular Sciences
Volume 22
Issue 17
International journal of molecular sciences, vol. 22, no. 17, pp. 9331
Inherited retinal dystrophies (IRD) are due to various gene mutations. Each mutated gene instigates a specific cell homeostasis disruption, leading to a modification in gene expression and retinal degeneration. We previously demonstrated that the pol
Autor:
Veronika Vaclavik, Francis L. Munier, Hoai Viet Tran, Alexandre Moulin, Daniel F. Schorderet, Youssr Louati
Publikováno v:
Ophthalmic genetics. 42(6)
Background Whereas crystals deposit in the retina, the cornea and limbus in Bietty corneo-retinal dystrophy (BCD) is now well established and documented, only two published cases report their findings in the lens and no cases deep in the lens cortex.
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Autor:
Francis L. Munier, James W B Bainbridge, Neruban Kumaran, Mette Bertelsen, Michalis Georgiou, Michael Larsen, Hoai Viet Tran, Fiona Blanco-Kelly, Carmen Ayuso, Angelos Kalitzeos, Michel Michaelides
Publikováno v:
Investigative Ophthalmology & Visual Science
Kumaran, N, Georgiou, M, Bainbridge, J W B, Bertelsen, M, Larsen, M, Blanco-Kelly, F, Ayuso, C, Tran, H V, Munier, F L, Kalitzeos, A & Michaelides, M 2020, ' Retinal Structure in RPE65-Associated Retinal Dystrophy ', Investigative Ophthalmology & Visual Science, vol. 61, no. 4, 47 . https://doi.org/10.1167/iovs.61.4.47
Kumaran, N, Georgiou, M, Bainbridge, J W B, Bertelsen, M, Larsen, M, Blanco-Kelly, F, Ayuso, C, Tran, H V, Munier, F L, Kalitzeos, A & Michaelides, M 2020, ' Retinal Structure in RPE65-Associated Retinal Dystrophy ', Investigative Ophthalmology & Visual Science, vol. 61, no. 4, 47 . https://doi.org/10.1167/iovs.61.4.47
Purpose: RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals.Methods: We performed cross-sectional and l
Publikováno v:
Ophthalmology. Retina. 4(10)