Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Fadi Nasser"'
Autor:
Melanie Kempf, Susanne Kohl, Krunoslav Stingl, Fadi Nasser, Katarina Stingl, Friederike C. Kortuem
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
PurposeTo determine the structure of the cone photoreceptor mosaic in the macula in eyes with retinitis pigmentosa related to Usher syndrome using adaptive optics fundus (AO) imaging and to correlate these findings with those of the standard clinical
Externí odkaz:
https://doaj.org/article/ed87fabc7a694683b8ebdefc27e9eb64
Autor:
Fadi Nasser, Ivan Hashim
Publikováno v:
Engineering and Technology Journal, Vol 39, Iss 10, Pp 1492-1505 (2021)
In the VLSI circuits, power dissipation is a critical design parameter and it plays a vital role in the performance of different digital systems. The decrease in chip size along with the increase in chip density and complexity will increase the diffi
Externí odkaz:
https://doaj.org/article/21a97f68291a4841895e616e6f16f461
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)
Abstract Background Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of the locus control
Externí odkaz:
https://doaj.org/article/3dcec00f60844d5eaeff9732f88394fe
Autor:
Laura Kuehlewein, Ditta Zobor, Katarina Stingl, Melanie Kempf, Fadi Nasser, Antje Bernd, Saskia Biskup, Frans P.M. Cremers, Muhammad Imran Khan, Pascale Mazzola, Karin Schäferhoff, Tilman Heinrich, Tobias B. Haack, Bernd Wissinger, Eberhart Zrenner, Nicole Weisschuh, Susanne Kohl
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2374 (2021)
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at
Externí odkaz:
https://doaj.org/article/ebbf8bcb097540709f9d46f347dfe784
Publikováno v:
Ophthalmic Research.
Introduction: The colour vision in bestrophinopathies has not been assessed deeply so far. The aim of this study was to explore the extent to which distinct types of bestrophinopathies differ in regard to colour vision deficiencies using Farnsworth D
Autor:
Kazushige Tsunoda, Camiel J. F. Boon, Ester Carreño, Xiao Liu, Rachel M. Huckfeldt, Mark E. Pennesi, Andrew R. Webster, Anthony G. Robson, Elise Héon, Gavin Arno, Susanne Kohl, Belen Jimenez-Rolando, Michel Michaelides, Carmen Ayuso, Omar A. Mahroo, Eyal Banin, Samer Khateb, Takaaki Hayashi, Bernd Wissinger, Arif O. Khan, Eberhart Zrenner, Alberta A H J Thiadens, Ajoy Vincent, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Thales Antonio Cabral de Guimaraes, Xuan-Thanh-An Nguyen, Michalis Georgiou, Almudena Avila-Fernandez, Mauricio E Vargas, Emanuel R. de Carvalho, Shaun Michael Leo, Yu Fujinami-Yokokawa, Dror Sharon, Fadi Nasser, Kaoru Fujinami, Blanca Garcia-Sandoval
Publikováno v:
American journal of ophthalmology, 230, 1-11. Elsevier USA
American Journal of Ophthalmology, 230, 1-11. Elsevier Inc.
American Journal of Ophthalmology, 230. ELSEVIER SCIENCE INC
American Journal of Ophthalmology
American Journal of Ophthalmology, 230, 1-11. Elsevier Inc.
American Journal of Ophthalmology, 230. ELSEVIER SCIENCE INC
American Journal of Ophthalmology
Highlights • KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes. • Disease course can be unpredictable and may severely affect children and young adults. • Fin
Autor:
Bernd Wissinger, Eberhart Zrenner, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Xuan-Thanh-An Nguyen, Anthony G. Robson, Emanuel R. de Carvalho, Kazushige Tsunoda, Omar A. Mahroo, Alberta A H J Thiadens, Mauricio E Vargas, Fadi Nasser, Kaoru Fujinami, Gavin Arno, Rachel M. Huckfeldt, Ester Carreño, Thales Antonio Cabral de Guimaraes, Ayuso Carmen, Takaaki Hayashi, Michel Michaelides, Elise Héon, Xiao Liu, Dror Sharon, Ajoy Vincent, Mark E. Pennesi, Michalis Georgiou, Arif O. Khan, Andrew R. Webster, Yu Fujinami-Yokokawa, Gema Gordo, Eyal Banin, Shaun Michael Leo, Susanne Kohl, Belen Jimenez-Rolando, Camiel J. F. Boon, Samer Khateb
Publikováno v:
American journal of ophthalmology, 225, 95-107. Elsevier USA
American Journal of Ophthalmology, 225, 95-107. Elsevier Inc.
American Journal of Ophthalmology
American Journal of Ophthalmology, 225, 95-107. ELSEVIER SCIENCE INC
American Journal of Ophthalmology, 225, 95-107. Elsevier Inc.
American Journal of Ophthalmology
American Journal of Ophthalmology, 225, 95-107. ELSEVIER SCIENCE INC
Purpose To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort of children and adults. Study design This was a multicenter international clinical cohort study. Methods Review of clinical notes and
Autor:
Zrenner, Fadi Nasser, Susanne Kohl, Anne Kurtenbach, Melanie Kempf, Saskia Biskup, Theresia Zuleger, Tobias B. Haack, Nicole Weisschuh, Katarina Stingl, Eberhart
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1218
The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5–56 years, underwent a detailed ophthal
Autor:
Friederike C. Kortuem, Melanie Kempf, Laura Kuehlewein, Fadi Nasser, Constanze Kortuem, Michel Paques, Susanne Kohl, Marius Ueffing, Bernd Wissinger, Eberhart Zrenner, Katarina Stingl
Publikováno v:
Acta Ophthalmologica. 100
Autor:
Fadi, Nasser, Susanne, Kohl, Anne, Kurtenbach, Melanie, Kempf, Saskia, Biskup, Theresia, Zuleger, Tobias B, Haack, Nicole, Weisschuh, Katarina, Stingl, Eberhart, Zrenner
Publikováno v:
Genes. 13(7)
The aim of this study was to characterize the ophthalmic and genetic features of Bardet Biedl (BBS) syndrome in a cohort of patients from a German specialized ophthalmic care center. Sixty-one patients, aged 5-56 years, underwent a detailed ophthalmi