Zobrazeno 1 - 6
of 6
pro vyhledávání: '"William J, Triffo"'
Autor:
Alexander R, Chang, Bryn S, Moore, Jonathan Z, Luo, Gino, Sartori, Brian, Fang, Steven, Jacobs, Yoosif, Abdalla, Mohammed, Taher, David J, Carey, William J, Triffo, Gurmukteshwar, Singh, Tooraj, Mirshahi
Publikováno v:
JAMA
ImportanceMost studies of autosomal dominant polycystic kidney disease (ADPKD) genetics have used kidney specialty cohorts, focusing on PKD1 and PKD2. These can lead to biased estimates of population prevalence of ADPKD-associated gene variants and t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dad9344b7cec351c92396d985d66c5a8
https://doi.org/10.1001/jama.2022.22847
https://doi.org/10.1001/jama.2022.22847
Autor:
William J Triffo, Bryn S. Moore, Ashima Gulati, Vicente E. Torres, Stefan Somlo, Shrikant Mane, Alex R. Chang, Whitney Besse, Tooraj Mirshahi, Jonathan Z. Luo, Dustin N. Hartzel
Publikováno v:
Journal of the American Society of Nephrology. 30:2091-2102
Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly inherited polycystic kidney and liver diseases on the ADPKD spectrum are also caused by muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f48670c5f8c8a90499ce21a5ad287360
https://doi.org/10.1681/asn.2019030298
https://doi.org/10.1681/asn.2019030298
Autor:
Scott F Geller, Karen I Guerin, Meike Visel, Aaron Pham, Edwin S Lee, Amiel A Dror, Karen B Avraham, Toshinori Hayashi, Catherine A Ray, Thomas A Reh, Olivia Bermingham-McDonogh, William J Triffo, Shaowen Bao, Juha Isosomppi, Hanna Västinsalo, Eeva-Marja Sankila, John G Flannery
Publikováno v:
PLoS Genetics, Vol 5, Iss 8, p e1000607 (2009)
Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. Clarin 1, the protein product of CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synaps
Externí odkaz:
https://doaj.org/article/5b0b5b895c4640a499371880eb763eef
Autor:
Kevin P. McMullen, Daniel E. Couture, J. Daniel Bourland, William J. Triffo, Padraig P. Morris, Stephen B. Tatter
Publikováno v:
Journal of Neurosurgery. 120:120-125
Vein of Galen aneurysmal malformations (VGAMs) are uncommon congenital malformations arising from fistulous communication with the median vein of the prosencephalon, a primitive precursor of midline cerebral venous structures. Angiographic embolizati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3ed05421aa98d1eac36cfc9468c2585
https://doi.org/10.3171/2013.6.jns121897
https://doi.org/10.3171/2013.6.jns121897
Autor:
William J, Triffo, J Daniel, Bourland, Daniel E, Couture, Kevin P, McMullen, Stephen B, Tatter, Padraig P, Morris
Publikováno v:
Journal of neurosurgery. 120(1)
Vein of Galen aneurysmal malformations (VGAMs) are uncommon congenital malformations arising from fistulous communication with the median vein of the prosencephalon, a primitive precursor of midline cerebral venous structures. Angiographic embolizati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aa06dcfa65b321f28556e15e8819d6c4
https://pubmed.ncbi.nlm.nih.gov/23870021
https://pubmed.ncbi.nlm.nih.gov/23870021
Autor:
Sunil Puria, Tatiana B. Krasieva, William J. Triffo, Reena Zalpuri, Cara Chlebicki, Ryan P. Jackson, Tony Ricci
Publikováno v:
Hearing Research. 263:243
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2dda8fb485ccd17bc2eca85486c78026
https://doi.org/10.1016/j.heares.2010.03.043
https://doi.org/10.1016/j.heares.2010.03.043