Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Mai M. Abd El-aziz"'
Autor:
Maha A. Hegazy, Emad Mohamed Hussien, Heba M. El-Sayed, Laila El-Sayed Abdel Fattah, Mai M. Abd El-aziz, Hisham E. Abdellatef
Publikováno v:
Electroanalysis. 34:494-500
Autor:
Heba M. El-Sayed, Maha A. Hegazy, Hisham E. Abdellatef, Laila El-Sayed Abdel Fattah, Mai M. Abd El-aziz
Publikováno v:
Journal of AOAC INTERNATIONAL. 104:847-853
Background Entecavir (ENT) is an antiretroviral agent prescribed for the treatment of the hepatitis B virus(HBV) and human immunodeficiency virus(HIV). Objective Development and validation of three simple, sensitive, selective, and precise methods fo
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
Using a positional c
Using a positional c
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:
Nature Reviews Genetics. 11:273-284
The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal degeneration due to PR cell death--which occurs in conditions such as r
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:
Kinga M. Bujakowska, Mai M. Abd El-Aziz, Shomi S. Bhattacharya, James S. Friedman, Bernd Wissinger, Wendy A. Bickmore, Christina Chakarova, Cécilia Maubaret, Brotati Veraitch, Eberhart Zrenner, Myrto Papaioannou, Torsten Theis, Christian P. Hamel, Andreas Gal, Peter M. G. Munro, Amna Z. Shah, Hemant Khanna, De Quincy C. Prescott, Anand Swaroop, Irma Lopez, Karl Matter, Valeria Marigo, Naushin Waseem, Sunil K. Parapuram, Robert K. Koenekoop, Chris P. Ponting
Publikováno v:
The American Journal of Human Genetics. 81:1098-1103
We report mutations in the gene for topoisomerase I-binding RS protein (TOPORS) in patients with autosomal dominant retinitis pigmentosa (adRP) linked to chromosome 9p21.1 (locus RP31). A positional-cloning approach, together with the use of bioinfor
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
PURPOSE: To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). PATIENTS AND METHODS: A clinical and molecular
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:
Marcela Mena, Carmen Ayuso, María González del Pozo, Christina Zeitz, Joaquín Dopazo, Montserrat Baiget, Mai M. Abd El-Aziz, Shomi S. Bhattacharya, José M. Millán, Juan Ignacio Pieras, Karin W. Littink, Salud Borrego, Guillermo Antiñolo, Javier Santoyo, Isabelle Audo, Isabel Barragan
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
HUMAN MUTATION
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Human Mutation
Human Mutation, 2010, 31 (11), ⟨10.1002/humu.21334⟩
Human Mutation, Wiley, 2010, 31 (11), ⟨10.1002/humu.21334⟩
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
HUMAN MUTATION
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Human Mutation
Human Mutation, 2010, 31 (11), ⟨10.1002/humu.21334⟩
Human Mutation, Wiley, 2010, 31 (11), ⟨10.1002/humu.21334⟩
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
29 páginas, 4 figuras, 3 tablas.-- et al.
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac1839d002d62a647c547b573a64e6d
http://hdl.handle.net/10261/38875
http://hdl.handle.net/10261/38875
Autor:
Robert H, Henderson, Zheng, Li, Mai M, Abd El Aziz, Donna S, Mackay, Mohammad A, Eljinini, Marwan, Zeidan, Anthony T, Moore, Shomi S, Bhattacharya, Andrew R, Webster
Publikováno v:
Molecular Vision
Purpose To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene. Methods A full genome scan of members of two co