Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.

Autor: Raeesa Tehreem, Anam Arooj, Sorath Noorani Siddiqui, Shagufta Naz, Kiran Afshan, Sabika Firasat

Publikováno v: PLoS ONE, Vol 17, Iss 9, p e0274335 (2022)

BackgroundPrimary congenital glaucoma (PCG) is a heterogeneous rare recessively inherited disorder prevalent in regions with high consanguinity. Disease phenotype is associated with increased intra ocular pressure and is a major cause of childhood bl

Externí odkaz: https://doaj.org/article/9f016c488e2246549823cdd383f3c3fb

Effects of Artisan aphakic intraocular lens on central corneal thickness and intra ocular pressure in pediatric eyes with crystalline subluxated lenses

Autor: Saemah Nuzhat Zafar, Sorath Noorani Siddiqui, Ayesha Khan

Publikováno v: Oman Journal of Ophthalmology, Vol 6, Iss 1, Pp 44-47 (2013)

Purpose: To study effects of Artisan iris fixated intraocular lens (IOL) on central corneal thickness (CCT) and intraocular pressure (IOP) in pediatric eyes with crystalline subluxated lenses. Materials and Methods: The study included 17 eyes underg

Externí odkaz: https://doaj.org/article/6175d0e4186f452b841b12e10f6d8202

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

Autor: Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Cristina Villanueva-Mendoza, Vianney Cortés-González, Muhammad Imran Khan, Anneke I den Hollander

Publikováno v: PLoS ONE, Vol 11, Iss 7, p e0160016 (2016)

Anterior segment dysgenesis (ASD) disorders are a group of clinically and genetically heterogeneous phenotypes in which frequently cornea, iris, and lens are affected. This study aimed to identify novel mutations in PAX6, PITX2 and FOXC1 in families

Externí odkaz: https://doaj.org/article/1603e521cc3d4e95b285518758474ff7

Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

Autor: Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I den Hollander, Lonneke Haer-Wigman, Rob W J Collin, Muhammad Imran Khan, Raheel Qamar, Frans P M Cremers

Publikováno v: PLoS ONE, Vol 10, Iss 3, p e0119806 (2015)

BackgroundHomozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset

Externí odkaz: https://doaj.org/article/52505016e9c6419fbe33ec4331671492

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome

Autor: Muhammad Imran Khan, Shazia Micheal, Sorath Noorani Siddiqui, Nomdo M. Jansonius, Vianney Cortés-González, Valeria Lo Faro, Arthur A.B. Bergen, Cristina Villanueva-Mendoza

Publikováno v: Molecular genetics and genomic medicine, 8(7):e1215. John Wiley and Sons Inc.
Molecular genetics & genomic medicine, 8. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular genetics & genomic medicine, 8(7):1215. Wiley
Molecular Genetics & Genomic Medicine

Purpose Axenfeld‐Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the PITX2 gene to identify possible novel mutations in Pakistani and Mexican families af

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0355b1dffdbd42554c23b50a1612b52c
https://doi.org/10.1002/mgg3.1215