Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan

Autor: Muhammad Rashid, Sairah Yousaf, Shakeel A. Sheikh, Zureesha Sajid, Asra S. Shabbir, Tasleem Kausar, Nabeela Tariq, Muhammad Usman, Rehan S. Shaikh, Muhammad Ali, Shazia A. Bukhari, Ali M. Waryah, Muhammad Qasim, Saima Riazuddin, Zubair M. Ahmed

Publikováno v: Molecular Vision, Vol 25, Iss 1, Pp 144-154 (2019)

Purpose: Primary congenital glaucoma (PCG) is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic causes of PCG segregating in 36 large consanguineous Pakistani families. Methods: Ophthalmic exa

Externí odkaz: https://doaj.org/article/b5f6a5b6d40842db87f7126c07225a1f

Evaluation of Trace Elements in Patients with Senile Cataract

Autor: Abdul Sattar Khan, Shahida Hassan Memon, Shakeel Ahmed Sheikh, Ali Raza Memon, Gunesh Kumar, Muhammad Yaqoob Shahani

Publikováno v: Pakistan Journal of Medical and Health Sciences. 16:500-503

Background: Senile cataract is a common cause of blindness among older people. The problem is common among adults of age 40 and older. There are various factors that cause senile cataracts among adults. These factors include protein and lipid variati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa281ff6716878f783212051513a9794
https://doi.org/10.53350/pjmhs22168500

Genetic heterogeneity of primary open-angle glaucoma in Pakistan

Autor: Muhammad Yaqoob Shahani, Samreen Memon, Shakeel Ahmed Sheikh, Umbreen Bano, Pashmina Shaikh, Samina Gul Memon, Shazia Begum Shahani, Ikram din Ujjan, Ashok Kumar Narsani, Ali Muhammad Waryah

Publikováno v: Saudi journal of biological sciences. 30(1)

Glaucoma is a neurodegenerative ophthalmic disorder and is considered among the leading causes of irreversible blindness. Primary open-angle glaucoma (POAG) is the most common type of glaucoma that affects after 30 years of life, progressing slowly,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20ad14f8b1b9c4c7f59f4b5433ce6e3c
https://pubmed.ncbi.nlm.nih.gov/36387029

End-to-End and Self-Supervised Learning for ComParE 2022 Stuttering Sub-Challenge

Autor: Shakeel A. Sheikh, Md Sahidullah, Slim Ouni, Fabrice Hirsch

Publikováno v: ACM Multimedia 2022 Computational Paralinguistics Challenge (ComParE)
ACM Multimedia 2022 Computational Paralinguistics Challenge (ComParE), Oct 2022, Lisbon, Portugal

In this paper, we present end-to-end and speech embedding based systems trained in a self-supervised fashion to participate in the ACM Multimedia 2022 ComParE Challenge, specifically the stuttering sub-challenge. In particular, we exploit the embeddi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f87d38891db4dc792e919fcf44b746b7

Biallelic Variants in EPHA2 Identified in Three Large Inbred Families with Early-Onset Cataract

Autor: Shakeel Ahmed Sheikh, Ali Muhammad Waryah, Saima Riazuddin, Priya Jarwar, Zubair M. Ahmed, Ikram Uddin Ujjan, Yar M. Waryah

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 10655, p 10655 (2021)

Hereditary congenital cataract (HCC) is clinically and genetically heterogeneous. We investigated HCC that segregates in three inbred families (LUCC03, LUCC16, and LUCC24). Ophthalmological examinations revealed cataracts with variability related to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd24e28168fe6a2a1e12eb76098c3383
https://www.mdpi.com/1422-0067/22/19/10655