Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Afia Iqbal"'
Autor:
Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0293769 (2023)
[This corrects the article DOI: 10.1371/journal.pone.0273685.].
Externí odkaz:
https://doaj.org/article/755c42dba4ee478580e1d2f0c801034a
Autor:
Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
Publikováno v:
Genes, Vol 14, Iss 3, p 707 (2023)
GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atro
Externí odkaz:
https://doaj.org/article/49b66bccba8b4df88118b5be518c2168
Autor:
Ali Raza Rao, Aamir Nazir, Samina Imtiaz, Sohail Aziz Paracha, Yar Muhammad Waryah, Ikram Din Ujjan, Ijaz Anwar, Afia Iqbal, Federico A. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, Ali Muhammad Waryah, Stylianos E. Antonarakis, Muhammad Ansar
Publikováno v:
Genes, Vol 14, Iss 2, p 404 (2023)
This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes. Whole exo
Externí odkaz:
https://doaj.org/article/57c11f4bd87a4e879da571e52acce3e6
Autor:
Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor
Publikováno v:
PLoS ONE, Vol 17, Iss 8, p e0273685 (2022)
AimTo identify the molecular basis of Congenital Hereditary Endothelial Dystrophy CHED caused by mutations in SLC4A11, in the consanguineous Pakistani families.MethodsA total of 7 consanguineous families affected with Congenital Hereditary Endothelia
Externí odkaz:
https://doaj.org/article/e23ee688634546e4914ab0c4e27edc9c
Publikováno v:
Proceedings of the Pakistan Academy of Sciences: B. Life and Environmental Sciences. 59:49-56
Endothelial Corneal Dystrophy (ECD) is, by definition, an endogenous degeneration that progresses slowly in the corneal endothelium as a result of genetic predisposition. A transverse study was conducted from September 2018 to June 2019, and the subj
Autor:
Ayesha Khush Bakht, Shagufta Naz, Muhammad Asif Naeem, Saima Sharif, Muhammad Qasim, Haiba Kaul, Sabika Firasat, Khajista Jabeen, Afia Iqbal
Background: Granular Corneal Dystrophy Type 2 (GCD2) is an inherited condition characterized by snowflake-shaped opacities in the cornea. The disorder is caused by mutations in the TGFBI gene, which encodes keratoepithelin. The objective of this stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0efb9bd2af686d8b3a2080fb2b07581
https://doi.org/10.21203/rs.3.rs-2713586/v1
https://doi.org/10.21203/rs.3.rs-2713586/v1
Publikováno v:
Alimentary Pharmacology & Therapeutics. 57:1482-1483
Autor:
Afia Iqbal, Muhammad Iqbal, Hafiz Muhammad Azhar Baig, Giacomo Calzetti, Muhammad Ansar, Carlo Rivolta, Mathieu Quinodoz, Muhammad Naeem
Publikováno v:
Ophthalmic Research. 65:104-110
Introduction: Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities. Methods: We analyzed four large con
Autor:
Shagufta Naz, Nazia Ibrahim, Saima Sharif, Tasnim Farasat, Ayesha Javed, Eesha Sajjad, Afia Iqbal
Publikováno v:
Lahore Garrison University Journal of Life Sciences. 4:1-8
A retrospective study on Congenital Cataract (CC) was performedbetween October 2015 to May 2016 during ophthalmological consultation at differenthospitals of Lahore. The aim of this research was to determine the incidence of lensextraction, nystagmus
Autor:
Afshan Kaleem Sumera Sajjad, Shagufta Naz, Nazia Ibrahim, Saima Sharif, Afia Iqbal, Nadia Sarwar
Publikováno v:
Pure and Applied Biology. 8
This study was conducted to check predominance of keratoconus in male and female of the various age groups in Pakistan and to check the severity of disease in keratoconus patients. Keratoconus is a progressive eye disease in which the normally round