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Elise Orhan
Elise Orhan
PhD, Institut de la Vision
Adresse e-mail validée de inserm.fr
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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness
C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, ...
The American Journal of Human Genetics 92 (1), 67-75, 2013
1462013
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
I Audo, K Bujakowska, E Orhan, CM Poloschek, S Defoort-Dhellemmes, ...
The American Journal of Human Genetics 90 (2), 321-330, 2012
1442012
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy
S El Shamieh, M Neuillé, A Terray, E Orhan, C Condroyer, V Démontant, ...
The American Journal of Human Genetics 94 (4), 625-633, 2014
622014
Genotypic and phenotypic characterization of P23H line 1 rat model
E Orhan, D Dalkara, M Neuillé, C Lechauve, C Michiels, S Picaud, ...
PLoS One 10 (5), e0127319, 2015
592015
Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB)
M Neuillé, S El Shamieh, E Orhan, C Michiels, A Antonio, ME Lancelot, ...
PloS one 9 (3), e90342, 2014
592014
LRIT 3 is essential to localize TRPM 1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation
M Neuillé, CW Morgans, Y Cao, E Orhan, C Michiels, JA Sahel, I Audo, ...
European Journal of Neuroscience 42 (3), 1966-1975, 2015
572015
RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation
I Audo, S Mohand‐Saïd, CM Dhaenens, A Germain, E Orhan, A Antonio, ...
Human mutation 33 (1), 73-80, 2012
452012
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel …
I Audo, K Bujakowska, E Orhan, S El Shamieh, F Sennlaub, ...
Human molecular genetics 23 (2), 491-501, 2014
342014
Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness
E Orhan, L Prézeau, S El Shamieh, KM Bujakowska, C Michiels, Y Zagar, ...
Investigative Ophthalmology & Visual Science 54 (13), 8041-8050, 2013
262013
Congenital Stationary Night Blindness C
C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuille, E Orhan, ...
Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H …, 2013
112013
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy
M Solaguren‐Beascoa, KM Bujakowska, C Méjécase, L Emmenegger, ...
Clinical genetics 99 (2), 298-302, 2021
72021
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
C Zeitz, C Méjécase, C Michiels, C Condroyer, J Wohlschlegel, ...
International Journal of Molecular Sciences 22 (15), 7875, 2021
42021
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency
E Orhan, M Neuillé, M de Sousa Dias, T Pugliese, C Michiels, ...
International Journal of Molecular Sciences 22 (9), 4424, 2021
32021
Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness
C Zeitz, S Jacobson, C Hamel, K Bujakowska, M Neuillé, E Orhan, ...
Investigative Ophthalmology & Visual Science 54 (15), 3350-3350, 2013
12013
Efficacy and durability of EYS809 non-viral gene therapy in nAMD preclinical models
K Bigot, P Gondouin, R Bénard, M Piazza, E Orhan, FF Behar-Cohen, ...
Investigative Ophthalmology & Visual Science 64 (8), 1300-1300, 2023
2023
In vitro RPE cell models for iron toxicity studies
E Picard, JY Tembou, T Jaworski, C Lebon, A Francon, E Orhan, K Bigot, ...
Investigative Ophthalmology & Visual Science 64 (8), 2602-2602, 2023
2023
Transferrin confers neuroprotection in ex vivo and in vivo glaucoma rat models
K Bigot, J Youale, B Kodati, T Jaworski, Y Fan, NY Nsiah, ...
Investigative Ophthalmology & Visual Science 63 (7), 1604–A0427-1604–A0427, 2022
2022
Transferrin protects RPE cells from oxidative damages
J Youale, T Jaworski, C Lebon, A Françon, E Orhan, K Bigot, T Bordet, ...
Investigative Ophthalmology & Visual Science 63 (7), 295–F0098-295–F0098, 2022
2022
EYS809 Non-Viral Gene Therapy to Improve Convenience and Outcomes in Wet AMD
E Orhan, K Bigot, P Gondouin, R Benard, M Piazza, R Buggage, ...
Investigative Ophthalmology & Visual Science 62 (8), 228-228, 2021
2021
A CCDC51 frameshift variant as a candidate gene defect for autosomal recessive rod-cone dystrophy
C Zeitz, C Méjécase, S Mohand-Saïd, L Emmengger, A Schalk, M Neuillé, ...
Investigative Ophthalmology & Visual Science 60 (9), 415-415, 2019
2019
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