Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

Autor: Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E. Antonarakis, Muhammad Ansar

Publikováno v: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-5 (2021)

Abstract Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of aff

Externí odkaz: https://doaj.org/article/400519f225054fa7a452b59040f859dd

P.arg102ser is a common Pde6? mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Autor: Anosha Ali Khan, Yar Muhammad Waryah, Muhammad Iqbal, Hafiz Muhammad Azhar Baig, Muhammad Rafique, Ali Muhammad Waryah

Publikováno v: Journal of the Pakistan Medical Association, Vol 71, Iss 3 (2020)

Aim: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families. Methods: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University of Medical and health Sciences, Jamshoro, the

Externí odkaz: https://doaj.org/article/dd4e74d67bab45ffab42e5aa746b8c5e

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

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, no. 2, pp. 404
Genes
Volume 14
Issue 2
Pages: 404

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::e92a61d0a06675de4a9c7f01b4455f23
https://serval.unil.ch/notice/serval:BIB_C3E970170ABC

P.arg102ser is a common Pde6? mutation causing autosomal recessive retinitis pigmentosa in Pakistani families

Autor: null Anosha Ali Khan, null Yar Muhammad Waryah, null Muhammad Iqbal, null Hafiz Muhammad Azhar Baig, null Muhammad Rafique, null Ali Muhammad Waryah, null Admin

Publikováno v: Journal of the Pakistan Medical Association. :1-15

Aim: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families. Methods: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University of Medical and health Sciences, Jamshoro, the Un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8703254850cb5b6753f50c2d44ab75
https://doi.org/10.47391/jpma.256

Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients

Autor: Attiq Ur Rahman, Muhammad Iqbal, Yar M. Waryah, Ashok Kumar Narsani, Shakeel Ahmed Sheikh, Ali Muhammad Waryah, Muhammad Azhar Baig, Munir Ahmad Bhinder, Muhammad Suleman Pirzado, Azam Iqbal Memon, Muhammad Atif

Publikováno v: International Journal of Ophthalmology, Vol 12, Iss 1, Pp 8-15 (2019)
International Journal of Ophthalmology, Vol 1, Iss 12, Pp 8-15 (2019)

Aim To find the CYP1B1 mutations associated with primary congenital glaucoma (PCG) in Pakistani consanguineous pedigrees. Methods After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f72e2f55b9592672fefac3db646653d9
http://www.ijo.cn/en_publish/2019/1/20190102.pdf