Zobrazeno 1 - 10
of 18
pro vyhledávání: '"M. F. El-Ashry"'
Autor:
Shom Shanker Bhattacharya, Leo Goodstadt, Leen Abu Safieh, Mai M. Abd El-Aziz, Amna Z. Shah, Michael E. Cheetham, Marcela Mena, M. F. El-Ashry, Elena Prigmore, C. O'Driscoll, Juan Ignacio Pieras, Salud Borrego, Nigel P. Carter, Christina Chakarova, Isabel Barragan, Guillermo Antiñolo, Chris P. Ponting
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
3 pages, 2 figures, 1 table.-- PMID: 18836446 [PubMed].-- Supporting information (Suppl. Methods, Suppl. Note, Suppl. Figs 1–4, Suppl. Table 1) available at: http://www.nature.com/ng/journal/v40/n11/suppinfo/ng.241_S1.html
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Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ac9836182b90264eab5d28357d70425
https://doi.org/10.1038/ng.241
https://doi.org/10.1038/ng.241
Publikováno v:
British Journal of Ophthalmology. 94:250-255
Aim To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy (MCD). Methods A clinical and molecular genetic study was performed on 11 patients from six families with MCD. Clinical diagnosis was confirmed by slit-
Autor:
Isabel Barragan, Shomi S. Bhattacharya, C. O'Driscoll, Guillermo Antiñolo, Juan Ignacio Pieras, Salud Borrego, Leen Abu-Safieh, M. F. El-Ashry, Nigel P. Carter, Elena Prigmore, M. M. Abd El-Aziz
Publikováno v:
Annals of Human Genetics. 72:463-477
A large scale bioinformatics and molecular analysis of a 34 Mb interval on chromosome 6q12 was undertaken as part of our ongoing study to identify the gene responsible for an autosomal recessive retinitis pigmentosa (arRP) locus, RP25. Extensive bioi
Publikováno v:
Current Eye Research. 33:693-699
To evaluate macular thickness measurements in normal subjects from British origin, to assess interocular asymmetry using optical coherence tomography (OCT) and to establish standard values for macular and foveal thickness.Two hundred eyes of 100 norm
Autor:
M. F. El-Ashry, Chi Pui Pang, Guillermo Antiñolo, M. M. Abd El-Aziz, Isabel Barragan, W. M. Chan, K. L. Chong, Shomi S. Bhattacharya
Publikováno v:
Annals of Human Genetics. 71:281-294
Autosomal recessive retinitis pigmentosa (arRP) is the commonest form of RP worldwide. To date 22 loci have been implicated in the pathogenesis of this disease; however none of these loci independently account for a significant proportion of recessiv
Autor:
Reshma Patel, Shomi S. Bhattacharya, Mai M. Abd El-Aziz, Irene Marcos, Isabel Barragan, Salud Borrego, M. F. El-Ashry, Guillermo Antiñolo
Publikováno v:
Ophthalmic Research. 38:19-23
To identify the disease gene in 6 Spanish families with autosomal recessive retinitis pigmentosa linked to the RP25 locus, mutation screening of 4 candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, was undertaken based on their expression or func
Autor:
Shomi S. Bhattacharya, M. F. El-Ashry, Daniel F P Larkin, Ian A. Cree, Alison J. Hardcastle, Neil D. Ebenezer, M. M. Abd El-Aziz, B Clarke
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
4 páginas, 5 figuras.-- Licence Creative Commons, attribution, Non-commercial licence.-- et al.
[AIMS]: To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD). [
[AIMS]: To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD). [
Autor:
M. F. El-Ashry, Shomi S. Bhattacharya, M. M. Abd El-Aziz, Guillermo Antiñolo, Salud Borrego, C. O'Driscoll, Isabel Barragan
Publikováno v:
Annals of human genetics. 72(Pt 4)
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies, characterised by rod photoreceptor cell degeneration with autosomal recessive RP (arRP) as the commonest form worldwide. To date, a total of 26 loci
Autor:
M. F. El-Ashry, Shomi S. Bhattacharya, M. M. Abd El-Aziz, Salud Borrego, Isabel Barragan, Guillermo Antiñolo, Leen Abu-Safieh
Publikováno v:
Annals of human genetics. 72(Pt 1)
Retinitis pigmentosa (RP) is a group of retinal dystrophies characterised primarily by rod photoreceptor cell degeneration. Exhibiting great clinical and genetic heterogeneity, RP be inherited as an autosomal dominant (ad) and recessive (ar), X-linke
Autor:
M M, Abd El-Aziz, M F, El-Ashry, W M, Chan, K L, Chong, I, Barragan, G, Antiñolo, C P, Pang, S S, Bhattacharya
Publikováno v:
Annals of human genetics. 71(Pt 3)
Autosomal recessive retinitis pigmentosa (arRP) is the commonest form of RP worldwide. To date 22 loci have been implicated in the pathogenesis of this disease; however none of these loci independently account for a significant proportion of recessiv