Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Samuel J. Huang"'
Autor:
Elizabeth E. Blue, Samuel J. Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Elisabeth A. Rosenthal, Madelyn A. Gillentine, Leah R. Fleming, David R. Adams, Lynne Wolfe, Aimee Allworth, Michael J. Bamshad, Nikeisha J. Caruana, Sirisak Chanprasert, Jingheng Chen, Nitsuh Dargie, Daniel Doherty, Marisa W. Friederich, Fuki M. Hisama, Martha Horike-Pyne, Jessica C. Lee, Tonia E. Donovan, Daniella H. Hock, Kathleen A. Leppig, Danny E. Miller, Ghayda Mirzaa, Jane Ranchalis, Wendy H. Raskind, Cole R. Michel, Richard Reisdorph, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, David A. Stroud, Virginia P. Sybert, Mark H. Wener, Andrew B. Stergachis, Christina T. Lam, Gail P. Jarvik, Katrina M. Dipple, Johan L.K. Van Hove, Ian A. Glass
Publikováno v:
Rare, Vol 2, Iss , Pp 100040- (2024)
Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we describe a partic
Externí odkaz:
https://doaj.org/article/93c294e07b004efca6d7414223356227
Autor:
Alexandra B. Pincus, Samuel J. Huang, Katie M. Lebold, Ubaldo De La Torre, Becky J. Proskocil, Matthew G. Drake, Hiroyuki Nakai, Allison D. Fryer, David B. Jacoby
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract We report subpopulations of airway parasympathetic neurons expressing substance P, neuronal nitric oxide synthase, and tyrosine hydroxylase, highlighting unexplored heterogeneity in this population. These neurotransmitter-specific subpopulat
Externí odkaz:
https://doaj.org/article/82e9296bdbf147ce882dcf05e2ab00fe
Publikováno v:
J Community Genet
Deoxyribonucleic acid (DNA) banking is an important laboratory service that preserves the option of future genetic testing. DNA bank consent forms are a critical tool to facilitate thorough and valid informed consent. The objectives of this study wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43f5d612fe7bd6cc585ce8c06487965c
https://doi.org/10.1007/s12687-022-00601-3
https://doi.org/10.1007/s12687-022-00601-3
Autor:
Cristy A. Ku, Austin D. Igelman, Samuel J. Huang, Huber Vasconcelos, Mariana Matioli da Palma, Steven T. Bailey, Andreas K. Lauer, Richard G. Weleber, Paul Yang, Mark E. Pennesi
Publikováno v:
Translational Vision Science & Technology. 12:17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e7d89142d88f2026675af88d8305e659
https://doi.org/10.1167/tvst.12.4.17
https://doi.org/10.1167/tvst.12.4.17
Autor:
Marwan K, Tayeh, Margaret, Chen, Stephanie M, Fullerton, Patrick R, Gonzales, Samuel J, Huang, Lauren J, Massingham, Julianne M, O'Daniel, Douglas R, Stewart, Ashlee R, Stiles, Barbara J, Evans
Publikováno v:
Genetics in Medicine. 25:100342
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::191a802c78a5d2a0daf5e37ece087ae6
https://doi.org/10.1016/j.gim.2022.11.010
https://doi.org/10.1016/j.gim.2022.11.010
Publikováno v:
Pediatrics In Review. 41:543-545
1. Samuel J. Huang, MD* 2. Kyle T. Salsbery, MS, CGC* 3. Robert D. Steiner, MD*,†,‡ 1. *Department of Pediatrics, Marshfield Clinic, Marshfield, WI 2. †Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26957fde2ea91a8919ad461094bbed13
https://doi.org/10.1542/pir.2018-0309
https://doi.org/10.1542/pir.2018-0309
Publikováno v:
Pediatrics in review. 42(Suppl 1)
1. Yixian Li, MD* 2. Samuel J. Huang, MD* 3. Michael J. McManus, MD* 1. *Department of Pediatrics, Marshfield Clinic Health System, Marshfield, WI 1. Address correspondence to Michael J. McManus, MD, Department of Pediatrics, Marshfield Clinic Health
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68fefd2bffcf6f269dac90e56940f5bb
https://pubmed.ncbi.nlm.nih.gov/33386348
https://pubmed.ncbi.nlm.nih.gov/33386348
Autor:
Nickie Stangel, Yongwook Dan, Conceição Egas, Terri L. Young, Kristina N. Whisenhunt, Jacob S Martin, Fatemeh Suri, Reza Maroofian, Samuel J Huang, Susana Carmona, Susan E. Quaggin, Tomokazu Souma, Emmanuelle Souzeau, Behzad Fallahi Motlagh, Jing Jin, Sarah M LaMartina, Nicole M Jody, Brendan M Lawson, Mehrnaz Narooie-Nejad, Heather D. Potter, Emily C. Higuchi, Owen M. Siggs, Jamie E Craig, Eduardo Silva, Vachiranee Limviphuvadh, Sebastian Maurer-Stroh, Xue Zhang, Elahe Elahi, Yasmin S. Bradfield, Maria José Simões, Evie Anagnos, Sean Martin, Stuart W. Tompson
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose Affecting children by age 3, primary congenital glaucoma (PCG) can cause debilitating vision loss by the developmental impairment of aqueous drainage resulting in high intraocular pressure (IOP), globe enlargement, and optic neuropathy. TEK h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b98fc5b18cd56f614b4b1c8935f903e8
http://europepmc.org/articles/PMC7545080
http://europepmc.org/articles/PMC7545080
Autor:
Mark E. Pennesi, Dan Jiang, Bryan M. Robb, Renee C. Ryals, Daniel L. Marks, Hope Titus, Ribal A. Salam, Firas W. Saad, Kyle K. Weller, Paul Yang, Samuel J. Huang, Hytham Hammad
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose We determine if monomethyl fumarate (MMF) can protect the retina in mice subjected to light-induced retinopathy (LIR). Methods Albino BALB/c mice were intraperitoneally injected with 50 to 100 mg/kg MMF before or after exposure to bright whit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a370f6fd05b459942cf45b4af5cf43
https://pubmed.ncbi.nlm.nih.gov/30924852
https://pubmed.ncbi.nlm.nih.gov/30924852
Autor:
Paul Yang, Melanie B. Gillingham, William Steele, Shasank Bonthala, Mark E. Pennesi, Samuel J. Huang, Dahlia Wafai, Hope Titus, Renee C. Ryals, Makayla Six, Claire Bernert
Publikováno v:
Translational Vision Science & Technology
Purpose Treatments that delay retinal cell death regardless of genetic causation are needed for inherited retinal degeneration (IRD) patients. The ketogenic diet is a high-fat, low-carbohydrate diet, used to treat epilepsy, and has beneficial effects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fdbd98acd1a38ee755a88ff389fa059
https://doi.org/10.1167/tvst.9.11.18
https://doi.org/10.1167/tvst.9.11.18