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Akademický článek

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

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Akademický článek

Combining APHRODITE Rain Gauges-Based Precipitation with Downscaled-TRMM Data to Translate High-Resolution Precipitation Estimates in the Indus Basin

Autor: Rabeea Noor, Arfan Arshad, Muhammad Shafeeque, Jinping Liu, Azhar Baig, Shoaib Ali, Aarish Maqsood, Quoc Bao Pham, Adil Dilawar, Shahbaz Nasir Khan, Duong Tran Anh, Ahmed Elbeltagi

Publikováno v: Remote Sensing, Vol 15, Iss 2, p 318 (2023)

Understanding the pixel-scale hydrology and the spatiotemporal distribution of regional precipitation requires high precision and high-resolution precipitation data. Satellite-based precipitation products have coarse spatial resolutions (~10 km–75

Externí odkaz: https://doaj.org/article/2c62768255a148f3970757d34a702f48

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Akademický článek

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

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

Publikováno v: International Journal of Ophthalmology, Vol 12, Iss 1, 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. Detai

Externí odkaz: https://doaj.org/article/b39b89094ce34229a4350776d51ce7d0

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Akademický článek

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

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A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

Autor: Muhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig, Mathieu Quinodoz, Mukhtar Ullah, Ji Hoon Han, Muhammad Usama Rahim, Humera Kausar, Giacomo Calzetti, Carlo Rivolta

Publikováno v: Ophthalmic Genetics. 43:720-723

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6dc06e5a7f86f27d8e69b6a917386e70
https://doi.org/10.1080/13816810.2022.2096242

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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

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Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15c9a7e69a4b13b42e04b3a34f7253d8
https://doi.org/10.1159/000520895

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Email Spam Detection using SVM

Autor: Azhar Baig

Publikováno v: International Journal for Research in Applied Science and Engineering Technology. 9:669-672

E-mail contributes to internet messaging as a necessary component. Spam mails are unwanted messages that appear in large numbers and are exploited by spammers to divulge personal information of the user. These e-mails are frequently company/control a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dbcd6464ad675ecf404c0b448cd416fb
https://doi.org/10.22214/ijraset.2021.36383

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