Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Sairah, Yousaf"'
Autor:
Ayesha Yousaf, Sairah Yousaf, Asra S. Shabbir, Rafia Yousaf, Saima Riazuddin, Rehan S. Shaikh, Regie Lyn P. Santos‐Cortez, Zubair M. Ahmed
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
Abstract Background Otitis media (OM) is the most frequent and complex middle ear condition with multifactorial etiology including genetic predisposition. OM depicts a variable clinical spectrum, leading to speech, developmental delay, and hearing lo
Externí odkaz:
https://doaj.org/article/1e03f75a035c448caef401d07f158078
Autor:
Ameera Mungale, David M. McGaughey, Congxiao Zhang, Sairah Yousaf, James Liu, Brian P. Brooks, Arvydas Maminishkis, Temesgen D. Fufa, Robert B. Hufnagel
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
The macula and fovea comprise a highly sensitive visual detection tissue that is susceptible to common disease processes like age-related macular degeneration (AMD). Our understanding of the molecular determinants of high acuity vision remains unclea
Externí odkaz:
https://doaj.org/article/dacfca79c6464c269d748823569aaea9
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
Autor:
Abdullah Y. Hassan, Sairah Yousaf, Moran R. Levin, Osamah J. Saeedi, Saima Riazuddin, Janet L. Alexander, Zubair M. Ahmed
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 240, p 240 (2022)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f5fcb69cc75a9ef9ae69691ee90214
https://www.mdpi.com/1422-0067/23/1/240
https://www.mdpi.com/1422-0067/23/1/240
Autor:
Jennifer Drechsler, Camilo Martinez, Sairah Yousaf, Mohamad S. Jaafar, Adrianna Lee, Janet L. Alexander, Zubair M. Ahmed, Richard H Birdsong, Laura Kueny, Moran Roni Levin, Snehaa Maripudi, Osamah Saeedi, Bethany Karwoski, William P Madigan, Marlet Bazemore
Publikováno v:
Eye Contact Lens
Objective To identify corneal structure differences on quantitative high-frequency ultrasound biomicroscopy (UBM) among subjects with congenital glaucoma compared with controls. Methods This prospective case-control study evaluated 180 UBM images fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d64048d06e0112cab546fd7e4e370191
https://doi.org/10.1097/icl.0000000000000844
https://doi.org/10.1097/icl.0000000000000844
Autor:
Rory J. Olson, Jane Juusola, Mark Flage, Carlos E. Prada, Srikar Kuppa, Gustavo Adolfo Contreras-García, Camilo A. Peñaloza-Mantilla, Maria J. Guillen Sacoto, Gail E. Graham, Lindsay Rhodes, James Liu, Pavel N. Pichurin, Michael Marble, Regina M. Zambrano, Wendy K. Chung, Parul Jayakar, Matthew J. Schultz, Mary Ella M Pierpont, Karina A. Campo-Neira, Matthew Osmond, Ingrid M. Wentzensen, Sairah Yousaf, Robert B. Hufnagel, Rhonda E. Schnur, Nara Sobreira, Maria I. Scarano, Karina Navarro
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as specific features. UBA2 (ubiquitin-like modifier-activating enzyme 2) lies adjacent to th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd1bddf790db45f36a565020c2b332a2
https://doi.org/10.1038/s41436-021-01182-1
https://doi.org/10.1038/s41436-021-01182-1
Autor:
Charles E. Robertson, Alessandra Nadine E. Chiong, Michèle M. Sale, Nanette R. Lee, Kimberly Mae C. Ong, Sairah Yousaf, Jose Pedrito M. Magno, Diana Ir, Patrick John Labra, Petri S. Mattila, Maria Luz San Agustin, Generoso T. Abes, Erasmo Gonzalo D V Llanes, Ma. Carmina Espiritu-Chiong, Maria Rina T. Reyes-Quintos, Tori C. Bootpetch, Wasyl Szeremeta, Allen F. Ryan, Teresa Luisa G. Cruz, Arnaud P. J. Giese, Suzanne M. Leal, Rachelle Marie A. Nonato, Zubair M. Ahmed, Abner L. Chan, Karen L. Mohlke, Rhodieleen Anne R. de la Cruz, Regie Lyn P. Santos-Cortez, Matthew J. Steritz, Tasnee Chonmaitree, Daniel N. Frank, Eva Maria Cutiongco-de la Paz, Melquiadesa Pedro, Elisabet Einarsdottir, Talitha Karisse L. Yarza, Juha Kere, Deborah A. Nickerson, Lena Hafrén, Niaz Ahankoob, Michael J. Bamshad, Kathleen Daly, Ma. Leah C. Tantoco, Charlotte M. Chiong, Harold S. Pine, Saima Riazuddin
Publikováno v:
Journal of Medical Genetics. 58:442-452
BackgroundOtitis media (OM) susceptibility has significant heritability; however, the role of rare variants in OM is mostly unknown. Our goal is to identify novel rare variants that confer OM susceptibility.MethodsWe performed exome and Sanger sequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c1f3273286a54b911b866b3c1c6e874
https://doi.org/10.1136/jmedgenet-2020-106844
https://doi.org/10.1136/jmedgenet-2020-106844
Autor:
Saima Riazuddin, Sairah Yousaf, Zubair M. Ahmed, Muhammad Ali Chaudhary, Saumil Sethna, Rehan S. Shaikh
Publikováno v:
Pigment Cell Melanoma Res
Skin pigmentation is a highly heterogeneous trait with diverse consequences worldwide. SLC24A5, encoding a potent K(+)-dependent Na(+)/Ca(2+) exchanger, is among the known color-coding genes that participate in melanogenesis by maintaining pH in mela
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52d772d7f2f5c4f67492615af464898
https://doi.org/10.1111/pcmr.12879
https://doi.org/10.1111/pcmr.12879
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:
Laryssa A. Huryn, Ehsan Ullah, Malena Daich Varela, Robert B. Hufnagel, Brian P. Brooks, Sairah Yousaf
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Genetic variation in PDE6C is associated with achromatopsia and cone dystrophy, with only a few reports of cone-rod dystrophy in the literature. We describe two pediatric and two adult patients with PDE6C related cone and cone-rod dystrophy a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc88b66c2c14d481cd46eb06b406bbf
https://pubmed.ncbi.nlm.nih.gov/33001157
https://pubmed.ncbi.nlm.nih.gov/33001157