Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Rola Ba-Abbad"'
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (I
Externí odkaz:
https://doaj.org/article/e208f44c488745faa67e41d6e10b7aa1
Autor:
Rola Ba-Abbad, Graham E. Holder, Anthony G. Robson, Magella M. Neveu, Naushin Waseem, Gavin Arno, Andrew R. Webster
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 14, Iss , Pp 83-86 (2019)
Purpose: To describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of CNGB1, mutations in which are implicated in autosomal recessive retinitis pigmentosa (rod-cone dystrophy). Observation
Externí odkaz:
https://doaj.org/article/5f6c263b7d5a4a3ea91eb01636e85545
Publikováno v:
Ophthalmic Genetics. :1-6
Publikováno v:
RETINAL Cases & Brief Reports. 16:507-510
PURPOSE To demonstrate phenotypic discordance between a monozygotic twin pair, one of whom exhibited pigmented paravenous chorioretinal atrophy (PPCRA). METHODS A patient and his identical twin brother, attending Moorfields Eye Hospital, were reviewe
Autor:
Chinthana Thangavel, Gavin Arno, Renae Elaine Bertrand, Rui Chen, Anthony G. Robson, Renata T Simões, Qingnan Liang, Jun Wang, Kaitlyn H. Xiong, Fernanda Belga Ottoni Porto, Xinye Qian, Rola Ba-Abbad, Keren J. Carss, F. Lucy Raymond, Andrew R. Webster, Shirley Aparecida Madureira Sampaio
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose Previous studies suggest that ceramide is a proapoptotic lipid as high levels of ceramides can lead to apoptosis of neuronal cells, including photoreceptors. However, no pathogenic variant in ceramide synthases has been identified in human pa
Autor:
Anthony G. Robson, Konstantinos Bouras, Rola Ba-Abbad, Andrew R. Webster, Gavin Arno, Michel Michaelides, Genevieve A. Wright, Michalis Georgiou
Publikováno v:
Ophthalmic Genetics. 41:612-615
To describe the clinical, electrophysiological, and molecular features of an unusual macula-predominant retinopathy in two unrelated probands with biallelic variants in RDH12. Retrospective case se...
A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
Autor:
Michel Michaelides, Genevieve A. Wright, Omar A. Mahroo, Andrew R. Webster, Elena R. Schiff, Gavin Arno, Rola Ba-Abbad, Emma Duignan, Anthony G. Robson
Publikováno v:
Eye. 35:1482-1489
Purpose To describe the clinical and electrophysiological features of adult-onset macular dystrophy, due to novel combinations of CDHR1 alleles, and compare the associated phenotypes with previous reports. Methods The clinical records of patients wit
Publikováno v:
Ophthalmic Genetics. 40:564-569
Background: Achromatopsia has been previously associated with mutations in the ATF6 gene. Rod-monochromatism, foveal hypoplasia, and disruption of the subfoveal photoreceptor layer are desc...
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Autor:
Rachel M. Huckfeldt, Kinga M. Bujakowska, Mariana Neves, Erin Zampaglione, Andrew R. Webster, Anne B. Fulton, Iris Deitch, Vincent Dunet, Rola Ba-Abbad, Michel Michaelides, Gavin Arno, Virginie G. Peter, Eric A. Pierce, Emily Place, Eyal Banin, Boris Rosin, Mathieu Quinodoz, Carlo Rivolta, Tamar Ben-Yosef, Dror Sharon, Riccardo Sangermano, Naomi E Wagner, Ana Berta Sousa, Alaa AlTalbishi, Luisa Coutinho-Santos, Anna Larson
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
NPJ Genomic Medicine
NPJ Genomic Medicine
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has
Autor:
Brooke Saffren, Bernd Wissinger, Eberhart Zrenner, Fadi Nasser, José-Alain Sahel, Christel Condroyer, Claire Marie Dhaenens, Stephen H. Tsang, Vivienne C. Greenstein, Rola Ba-Abbad, Isabelle Audo, Melanie Kempf, Susanne Kohl, Omar A. Mahroo, Cyntia Solis Hernandez, Andrew R. Webster, Nan-Kai Wang, Janet R. Sparrow, Saddek Mohand-Said, Vasily M. Smirnov, Simon M. Petersen-Jones, Sabine Defoort-Dhellemmes, Alex V. Levin, Laura Kühlewein, Sara D. Ragi, William W. Hauswirth, Jenina E. Capasso, Marco Nassisi, Michel Michaelides, Christina Zeitz, Stylianos Michalakis, Simona Degli Esposti, Aline Antonio
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩
Human Mutation, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩
Human Mutation, Wiley, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩
Human Mutation, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩
International audience; Cyclic nucleotide-gated channel β1 (CNGB1) encodes the 240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0005fb0b27c540652f4f0ab9be95ae
https://hal.sorbonne-universite.fr/hal-03240900/document
https://hal.sorbonne-universite.fr/hal-03240900/document