Zobrazeno 1 - 10
of 128
pro vyhledávání: '"Wadih M, Zein"'
Autor:
Navid Nouri, Bailey Hannon Gussler, Amy Stockwell, Tom Truong, Gyeong Jin Kang, Kristen C. Browder, Yann Malato, Abdoulaye Sene, Sherri Van Everen, Charles C. Wykoff, David Brown, Arthur Fu, James D. Palmer, Jose Ronaldo Lima de Carvalho, Ehsan Ullah, Ranya Al Rawi, Emily Y. Chew, Wadih M. Zein, Bin Guan, Mark I. McCarthy, Jeffrey W. Hofmann, Shawnta Y. Chaney, Heinrich Jasper, Brian L. Yaspan
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-13 (2024)
Abstract Age-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment worldwide with a strong genetic component. Genetic studies have identified several loci, but few causal genes with functiona
Externí odkaz:
https://doaj.org/article/ab0df09aee6145bab141375377878984
Autor:
Nancy Aguilera, Tao Liu, Andrew J. Bower, Joanne Li, Sarah Abouassali, Rongwen Lu, John Giannini, Maximilian Pfau, Chelsea Bender, Margery G. Smelkinson, Amelia Naik, Bin Guan, Owen Schwartz, Andrei Volkov, Alfredo Dubra, Zhuolin Liu, Daniel X. Hammer, Dragan Maric, Robert Fariss, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks, Wadih M. Zein, Laryssa A. Huryn, Johnny Tam
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-12 (2022)
The in vivo pathogenesis of the blinding retinal degeneration choroideremia is visualized, which reveals enlarged and area-disrupted retinal pigment epithelial cells, providing evidence for polymegathism in choroideremia.
Externí odkaz:
https://doaj.org/article/23f1aa92e6bc467cb2c2e52b88e2d152
Autor:
Volha V. Malechka, MD, Dat Duong, PhD, Keyla D. Bordonada, MD, Amy Turriff, MS, Delphine Blain, MS, MBA, Elizabeth Murphy, PhD, Wendy J. Introne, MD, Bernadette R. Gochuico, MD, David R. Adams, MD, PhD, Wadih M. Zein, MD, Brian P. Brooks, MD, PhD, Laryssa A. Huryn, MD, Benjamin D. Solomon, MD, Robert B. Hufnagel, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 1, Pp 100225- (2023)
Purpose: To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and visual acuity using a deep learning classifier. Design: Retrospective cohort study
Externí odkaz:
https://doaj.org/article/274a7e4a1c8149b4b26877b3c0630414
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 28, Iss , Pp 101740- (2022)
Purpose: To report long-term evolution of unilateral focal choroidal excavation in a patient with ABCA4-related retinopathy. Observations: A 51-year-old female with ABCA4-related retinopathy developed a small juxtafoveal defect in Bruch's membrane in
Externí odkaz:
https://doaj.org/article/fffb34df929041dc850d853f8ef20a1e
Autor:
Maximilian Pfau, Catherine A. Cukras, Laryssa A. Huryn, Wadih M. Zein, Ehsan Ullah, Marisa P. Boyle, Amy Turriff, Michelle A. Chen, Aarti S. Hinduja, Hermann E.A. Siebel, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks
Publikováno v:
JCI Insight, Vol 7, Iss 2 (2022)
BACKGROUND Outcome measures sensitive to disease progression are needed for ATP-binding cassette, sub-family A, member 4–associated (ABCA4-associated) retinopathy. We aimed to quantify ellipsoid zone (EZ) loss and photoreceptor degeneration beyond
Externí odkaz:
https://doaj.org/article/146b982cd8b64cd48a399486f1b3dc35
Autor:
Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed
Publikováno v:
eLife, Vol 10 (2021)
Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for
Externí odkaz:
https://doaj.org/article/b6069badb6b14498bff5ec71588e5683
Autor:
Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Determining the etiology of oculocutaneous albinism is important for proper clinical management and to determine prognosis. The purpose of this study was to genotype and phenotype eight adopted Chinese children who presented with
Externí odkaz:
https://doaj.org/article/2275c46d50974e9991a6c7d018a72d18
Autor:
Laryssa A. Huryn, Christina Torres Kozycki, Jasmine Y. Serpen, Wadih M. Zein, Ehsan Ullah, Alessandro Iannaccone, Lloyd B. Williams, Lucia Sobrin, Brian P. Brooks, H. Nida Sen, Robert B. Hufnagel, Daniel L. Kastner, Shilpa Kodati
Publikováno v:
Ophthalmology. 130:423-432
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ff71891de88a4947bf7e4cfd3daede7
https://doi.org/10.1016/j.ophtha.2022.10.026
https://doi.org/10.1016/j.ophtha.2022.10.026
Autor:
Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E. Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J. Griffith, Samuel Mawuli Adadey, Elvis Twumasi Aboagye, Gordon A. Awandare, Robert J. Morell, Ekaterini Tsilou, Amanda G. Noyes, Laura A. G. Sulmonte, Ambroise Wonkam, Isabelle Schrauwen, Suzanne M. Leal, Hela Azaiez, Carmen C. Brewer, Sheikh Riazuddin, Robert B. Hufnagel, Michael Hoa, Wadih M. Zein, J. Karl de Dios, Thomas B. Friedman
Publikováno v:
Clinical Genetics. 103:699-703
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fa28c57eb07bd63d0020e5fb71c72c4
https://doi.org/10.1111/cge.14312
https://doi.org/10.1111/cge.14312
Autor:
Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 12, Pp n/a-n/a (2020)
Abstract Background DYRK1A‐Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected in
Externí odkaz:
https://doaj.org/article/06654f43af104ad8bb6508fad2dfb28f