Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Yar M. Waryah"'
Autor:
Sairah, Yousaf, Nabeela, Tariq, Zureesha, Sajid, Shakeel A, Sheikh, Tasleem, Kausar, Yar M, Waryah, Rehan S, Shaikh, Ali M, Waryah, Saumil, Sethna, Saima, Riazuddin, Zubair M, Ahmed
Publikováno v:
Genes. 13(4)
Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical manifestati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b79c15c67efbe9b37937d23f6bc55b45
https://pubmed.ncbi.nlm.nih.gov/35456423
https://pubmed.ncbi.nlm.nih.gov/35456423
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
https://www.mdpi.com/1422-0067/22/19/10655
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)
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
http://www.ijo.cn/en_publish/2019/1/20190102.pdf
Autor:
Ansar A. Abbasi, Zubair M. Ahmed, Yar M. Waryah, Rehan S. Shaikh, Tasleem Kausar, Ali R. Rao, Tauqeer Ahmed Mughal, Sairah Yousaf, Mohsin Shahzad, Ali Muhammad Waryah, Zureesha Sajid, Saima Riazuddin
Publikováno v:
Genes
Genes, Vol 12, Iss 492, p 492 (2021)
Volume 12
Issue 4
Genes, Vol 12, Iss 492, p 492 (2021)
Volume 12
Issue 4
Melanin pigment helps protect our body from broad wavelength solar radiation and skin cancer. Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c70b4c8fb4db65dcc85f652f35b8d368
https://pubmed.ncbi.nlm.nih.gov/33800529
https://pubmed.ncbi.nlm.nih.gov/33800529
Autor:
Feriha Fatima Khidri, Ikram Din Ujjan, Ali Muhammad Waryah, Faiza Kamran Ali, Hina Shaikh, Yar M. Waryah
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-12 (2019)
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-12 (2019)
Background To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women. Methods After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9c07942f4c093fe4a94dc966d78124
https://doi.org/10.1186/s12881-019-0905-9
https://doi.org/10.1186/s12881-019-0905-9
Autor:
Hyunglok Chung, Emmanuelle Ranza, Michel Guipponi, Stylianos E. Antonarakis, Ali Muhammad Waryah, Muhammad Ansar, Periklis Makrythanasis, Ali Raza Rao, Ralph Fingerhut, Yar M. Waryah, Federico Santoni, Emilie Falconnet, Ashok Kumar Narsani, Hugo J. Bellen
Publikováno v:
Human molecular genetics. 27(15)
Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd558004c77a688e98ffbb69a8054b58
https://pubmed.ncbi.nlm.nih.gov/29771303
https://pubmed.ncbi.nlm.nih.gov/29771303
Autor:
Ali Muhammad Waryah, Rizwan Yousaf, Cecilia Herraiz Serrano, Rehan S. Shaikh, Haseeb A. Dad, Tasleem Kausar, Francesc López-Giráldez, Zubair M. Ahmed, Julia Sires Campos, Yar M. Waryah, Sairah Yousaf, Nara Sobreira, José C. García-Borrón, Saima Riazuddin, Mohsin Shahzad, Elizabeth Blue, Celia Jiménez-Cervantes, Muhammad Ali, Nabeela Tariq
Publikováno v:
Pigment Cell & Melanoma Research. 28:730-735
Melanocortin 1 receptor (MC1R), a Gs protein-coupled receptor of the melanocyte's plasma membrane, is a major determinant of skin pigmentation and phototype. Upon activation by α-melanocyte stimulating hormone, MC1R triggers the cAMP cascade to stim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd9700c25eeb7f6b976954c7d52cf6e
https://doi.org/10.1111/pcmr.12400
https://doi.org/10.1111/pcmr.12400
Autor:
Ashok Kumar Narsani, Ali Muhammad Waryah, Muhammad Iqbal, Mohsin Shahzad, Naila Shaikh, Yar M. Waryah, Hina Shaikh, Amber Mahmood
Publikováno v:
Biochemical genetics. 55(5-6)
CIB2 and GJB2 genes variants contribute significantly in familial cases of prelingual recessive hearing loss (HL). This study was aimed to determine the CIB2 and GJB2 variants and associated phenotype in 150 non-familial individuals with HL. After ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09fd7fd4c935f73f84f7247750936a12
https://pubmed.ncbi.nlm.nih.gov/29086887
https://pubmed.ncbi.nlm.nih.gov/29086887
Autor:
Saima Riazuddin, Zubair M. Ahmed, Rehan S. Shaikh, Sairah Yousaf, Tasleem Kausar, Ali Muhammad Waryah, Mohsin Shahzad, Muzammil Ahmad Khan, Yar M. Waryah, Hadia Gul, Nabeela Tariq, Muhammad Ali, Umair Mahmood
Publikováno v:
Scientific Reports
Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in the skin, hair, and iris. OCA is amongst the most common causes of vision impairment in children. To date, pathogenic variants in six genes have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a60911d2ee2d98f1dec732f2f39fe45d
http://europepmc.org/articles/PMC5339803
http://europepmc.org/articles/PMC5339803
Autor:
Shakeel Ahmed Sheikh, Robert A. Sisk, Saima Riazuddin, David H. W. Steel, Robert B. Hufnagel, Zubair M. Ahmed, Cara R. Schiavon, John A. Sayer, Ali Muhammad Waryah, Muhammad A. Usmani, Richard A. Kahn, Ashok Kumar Narsani, Yar M. Waryah
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor vision. This study aims to clinically and genetically characterize the segregating CRD phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a426528caaba6753bc691b858bff3569
https://doi.org/10.1167/iovs.19-27263
https://doi.org/10.1167/iovs.19-27263