Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Denise P. Kay"'
Autor:
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%–8% of a
Externí odkaz:
https://doaj.org/article/02c4caf366fb4060935dbf5c314b1e69
Autor:
Martin Kharrazi, Charlene Sacramento, Anne Marie Comeau, Jaime E. Hale, Michele Caggana, Denise M. Kay, Rachel Lee, Brendan Reilly, John D. Thompson, Samya Z. Nasr, Mary Kleyn, Gary Hoffman, Mei W. Baker, Colleen Clarke, Cheryl L. Harris, M. Christine Dorley, Hilary Fryman, Ankit Sutaria, Amy Hietala, Holly Winslow, Holly Richards, Bradford L. Therrell
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 4, p 58 (2022)
Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are missed. This survey aimed to find factors associated with missed CF cases due to IRT levels bel
Externí odkaz:
https://doaj.org/article/304dd445b57e49f2992e15dc0f65b32c
Autor:
Idoia Martínez de LaPiscina, Laura C. Hernández-Ramírez, Nancy Portillo, Ana L. Gómez-Gila, Inés Urrutia, Rosa Martínez-Salazar, Alejandro García-Castaño, Aníbal Aguayo, Itxaso Rica, Sonia Gaztambide, Fabio R. Faucz, Margaret F. Keil, Maya B. Lodish, Martha Quezado, Nathan Pankratz, Prashant Chittiboina, John Lane, Denise M. Kay, James L. Mills, Luis Castaño, Constantine A. Stratakis
Publikováno v:
Frontiers in Endocrinology, Vol 11 (2020)
Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotrop
Externí odkaz:
https://doaj.org/article/7952312d0762446d886aba3902769a4f
Autor:
Robert J. Sicko, Colleen F. Stevens, Erin E. Hughes, Melissa Leisner, Helen Ling, Carlos A. Saavedra-Matiz, Michele Caggana, Denise M. Kay
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 73 (2021)
Newborn screening (NBS) for Cystic Fibrosis (CF) is associated with improved outcomes. All US states screen for CF; however, CF NBS algorithms have high false positive (FP) rates. In New York State (NYS), the positive predictive value of CF NBS impro
Externí odkaz:
https://doaj.org/article/6481f5b849294e69b1df70935f9b46cb
Autor:
Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0188168 (2017)
Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA
Externí odkaz:
https://doaj.org/article/ea0265caf6b54fc3b6c8da1938fc1fc8
Autor:
Robert J Sicko, Marilyn L Browne, Shannon L Rigler, Charlotte M Druschel, Gang Liu, Ruzong Fan, Paul A Romitti, Michele Caggana, Denise M Kay, Lawrence C Brody, James L Mills
Publikováno v:
PLoS ONE, Vol 11, Iss 10, p e0165174 (2016)
Ebstein anomaly (EA) is a rare heart defect in which the tricuspid valve is malformed and displaced. The tricuspid valve abnormalities can lead to backflow of blood from the right ventricle to the right atrium, preventing proper circulation of blood
Externí odkaz:
https://doaj.org/article/1d80d22aa59444f3a9e595901a5f3aba
Autor:
Taye H Hamza, Honglei Chen, Erin M Hill-Burns, Shannon L Rhodes, Jennifer Montimurro, Denise M Kay, Albert Tenesa, Victoria I Kusel, Patricia Sheehan, Muthukrishnan Eaaswarkhanth, Dora Yearout, Ali Samii, John W Roberts, Pinky Agarwal, Yvette Bordelon, Yikyung Park, Liyong Wang, Jianjun Gao, Jeffery M Vance, Kenneth S Kendler, Silviu-Alin Bacanu, William K Scott, Beate Ritz, John Nutt, Stewart A Factor, Cyrus P Zabetian, Haydeh Payami
Publikováno v:
PLoS Genetics, Vol 7, Iss 8, p e1002237 (2011)
Our aim was to identify genes that influence the inverse association of coffee with the risk of developing Parkinson's disease (PD). We used genome-wide genotype data and lifetime caffeinated-coffee-consumption data on 1,458 persons with PD and 931 w
Externí odkaz:
https://doaj.org/article/d9d8feb3c5a546248ccbec16104d890a
Autor:
John L. Newsted, Matthew J. Zwiernik, Robert A. Budinsky, John P. Giesy, Jeremy N. Moore, Steve Wiseman, Xiaowei Zhang, Denise P. Kay, Scott D. Fitzgerald, Jane E. Link, Steven J. Bursian, Virunya S. Bhat, Nora M. Bello
Publikováno v:
Environmental Toxicology and Chemistry. 31:2545-2556
This study assessed the effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), 2,3,4,7,8-pentachlorodibenzofuran (PeCDF), and 2,3,7,8 tetrachlorodibenzofuran (TCDF) on the incidence of jaw lesions and on hepatic cytochrome P4501A (CYP1A) endpoints in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01f7f4b25bf21f9cb482ccca6c9cecac
https://doi.org/10.1002/etc.1975
https://doi.org/10.1002/etc.1975
Autor:
John P. Giesy, Timothy B. Fredricks, John L. Newsted, Sarah J. Coefield, Shaun A. Roark, Rita M. Seston, Denise P. Kay, Dustin L. Tazelaar, Matthew J. Zwiernik
Publikováno v:
Environmental Toxicology and Chemistry. 30:1354-1365
Concentrations of dioxin-like compounds, primarily polychlorinated dibenzofurans (PCDFs) and polychlorinated dibenzo-p- dioxins (PCDDs), in soils and sediments downstream of Midland, Michigan (USA) were greater than upstream sites and prompted a site
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f31bb85f37e0349cccf050464c750f7
https://doi.org/10.1002/etc.511
https://doi.org/10.1002/etc.511
Autor:
John P. Giesy, Denise P. Kay, Timothy B. Fredricks, Shaun A. Roark, Dustin L. Tazelaar, Patrick W. Bradley, Rita M. Seston, John L. Newsted, Sarah J. Coefield, Matthew J. Zwiernik
Publikováno v:
Ecotoxicology and Environmental Safety. 74:494-503
Concentrations of dioxin-like compounds, primarily polychlorinated dibenzofurans (PCDFs), in soils and sediments of the Tittabawassee River (TR) and associated floodplains downstream of Midland, Michigan (USA) were greater than upstream sites and pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bc9bc6049ce826806cb81e66a0f91a6
https://doi.org/10.1016/j.ecoenv.2010.10.024
https://doi.org/10.1016/j.ecoenv.2010.10.024