Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Christel, Condroyer"'
Autor:
Riccardo Sangermano, Priya Gupta, Cherrell Price, Jinu Han, Julien Navarro, Christel Condroyer, Emily M. Place, Aline Antonio, Shizuo Mukai, Xavier Zanlonghi, José-Alain Sahel, Stephanie DiTroia, Emily O’Heir, Jacque L. Duncan, Eric A. Pierce, Christina Zeitz, Isabelle Audo, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in whic
Externí odkaz:
https://doaj.org/article/9a6d74c45c7c47959cf5560f3852ea5d
Autor:
Andréa Amprou, Tasnim Ben Yacoub, Camille Letellier, Vincenzo Degaetano, Cécile Méjécase, Leila Azizzadeh Pormehr, Christel Condroyer, Amélie Slembrouck-Brec, Juliette Wohlschlegel, Olivier Goureau, Christina Zeitz, Isabelle Audo
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103558- (2024)
A Human induced pluripotent stem cell (iPSC) line was generated from dermal fibroblasts of a patient affected with an autosomal recessive retinal dystrophy carrying the homozygous c.910-7G>A variant in UBAP1L. Three isogenic control iPSC lines derive
Externí odkaz:
https://doaj.org/article/cfe1bf2bef494c38813b8b13c8c4cb1d
Autor:
Tasnim Ben yacoub, Camille Letellier, Juliette Wohlschlegel, Christel Condroyer, Amélie Slembrouck-Brec, Olivier Goureau, Christina Zeitz, Isabelle Audo
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103166- (2023)
The ITM2B-related retinal dystrophy (ITM2B-RD) was identified within patients carrying the autosomal dominant variant [c.782A > C, p.(Glu261Ala)] in ITM2B from whom induced pluripotent stem cell (IPSC) lines were previously generated. Here, we report
Externí odkaz:
https://doaj.org/article/bc69cd3fd8fe48078ae624987b44ed21
Autor:
Marco Nassisi, Carlo Lavia, Saddek Mohand-Said, Vasily Smirnov, Aline Antonio, Christel Condroyer, Serge Sancho, Juliette Varin, Alain Gaudric, Christina Zeitz, José-Alain Sahel, Isabelle Audo
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Thirty-eight patients from 37 families with retinitis pigmentosa (RP) underwent macular 6 × 6-mm swept-source optical coherence tomography angiography (SS-OCTA) and 30° near-infrared fundus autofluorescence (NIR-FAF) acquisitions in one ey
Externí odkaz:
https://doaj.org/article/1f468fc60c014a278f92d298f1c7b90d
Autor:
Vasily M. Smirnov, Matthieu P. Robert, Christel Condroyer, Julien Navarro, Aline Antonio, Jean-Michel Rozet, José-Alain Sahel, Isabelle Perrault, Isabelle Audo, Christina Zeitz
Publikováno v:
JAMA ophthalmology. 140(12)
ImportanceCongenital stationary night blindness (CSNB) is an inherited stationary retinal disorder that is clinically and genetically heterogeneous. To date, the genetic association between some cases with CSNB and an unusual complex clinical picture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b04bc8cfb1e1c7f25fcfd538eea90a7
https://pubmed.ncbi.nlm.nih.gov/36264558
https://pubmed.ncbi.nlm.nih.gov/36264558
Autor:
Juliette Wohlschlegel, Camille Letellier, Bingqian Liu, Cécile Méjécase, Amélie Slembrouck-Brec, Christel Condroyer, Christelle Michiels, José-Alain Sahel, Sacha Reichman, Christina Zeitz, Olivier Goureau, Isabelle Audo
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Human induced pluripotent stem cell (iPSC) lines were generated from fibroblasts of a patient affected with an autosomal dominant retinal dystrophy carrying the mutation c.782A>C, p.Glu261Ala in ITM2B and from an unaffected brother. Three different i
Externí odkaz:
https://doaj.org/article/773cc77a70734b14a4f8c98a98c55f03
Publikováno v:
Ophthalmic Genetics. 42:296-299
The complete form of congenital stationary night blindness (cCSNB) represents a non-progressive retinal disorder characterized by night vision problems and often congenital nystagmus, reduced vision, high myopia, strabismus and normal fundus appearan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94892fe4498f50c3d8720f365f28b794
https://doi.org/10.1080/13816810.2021.1897846
https://doi.org/10.1080/13816810.2021.1897846
Autor:
Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7189
Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading frame-15 isoform (RPGRORF15) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While RPGR-related RCDs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b96831438fb0f68b7cb34af4bb681e9a
http://hdl.handle.net/2434/938967
http://hdl.handle.net/2434/938967
Autor:
Vasily M. Smirnov, Baptiste Wilmet, Marco Nassisi, Christel Condroyer, Aline Antonio, Camille Andrieu, Céline Devisme, Serge Sancho, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Inherited retinal diseases (IRD) are a group of heterogeneous disorders, most of which lead to blindness with limited therapeutic options. Pathogenic variants in RBP4, coding for a major blood carrier of retinol, retinol-binding protein 4, are respon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d454b6199279438e47408778e7e534e9
https://hdl.handle.net/2434/964816
https://hdl.handle.net/2434/964816
Autor:
Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0168271 (2016)
GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homoz
Externí odkaz:
https://doaj.org/article/c22a62abdaa34ba388d681822c85bfe1