Zobrazeno 1 - 10
of 127
pro vyhledávání: '"S. Regalado"'
Autor:
Ma-Am Joy R. Tumulak, Carmencita D. Padilla, Jose Carlo E. Ongchangco, Mercy Y. Laurino, John Benedict B. Lagarde, Ellen S. Regalado, Augusto V. Legaspi, Elizabeth R. Ventura
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101847- (2024)
Purpose: Maple syrup urine disease (MSUD) is a common inborn error of metabolism diagnosed in the Philippines. A family may experience stress, anxiety, sorrow, or feelings of helplessness when a child is diagnosed to have a genetic disorder, which ca
Externí odkaz:
https://doaj.org/article/610f35c7f946438e85ac58a5e686daac
Akademický článek
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Autor:
Andrea M, Murad, Hannah L, Hill, Yu, Wang, Michael, Ghannam, Min-Lee, Yang, Norma L, Pugh, Federico M, Asch, Whitney, Hornsby, Anisa, Driscoll, Jennifer, McNamara, Cristen J, Willer, Ellen S, Regalado, Dianna M, Milewicz, Kim A, Eagle, Santhi K, Ganesh
Publikováno v:
Am J Med Genet A
American journal of medical genetics. Part A, 188(5), 1448-1456. Wiley-Liss Inc.
American journal of medical genetics. Part A, 188(5), 1448-1456. Wiley-Liss Inc.
Spontaneous coronary artery dissection (SCAD) is a potential precipitant of myocardial infarction and sudden death for which the etiology is poorly understood. Mendelian vascular and connective tissue disorders underlying thoracic aortic disease (TAD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59811af0afbcbbd6fde7a61648e30a7a
https://doi.org/10.1002/ajmg.a.62661
https://doi.org/10.1002/ajmg.a.62661
Autor:
Ellen S, Regalado, Shaine A, Morris, Alan C, Braverman, Ellen M, Hostetler, Julie, De Backer, Ruosha, Li, Reed E, Pyeritz, Anji T, Yetman, Elena, Cervi, Sherene, Shalhub, Richmond, Jeremy, Scott, LeMaire, Maral, Ouzounian, Arturo, Evangelista, Catherine, Boileau, Guillaume, Jondeau, Dianna M, Milewicz
Publikováno v:
Scientia
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Pathogenic variant; Precision medicine; Thoracic aortic aneurysm Variante patógena; Medicina de precisión; Aneurisma de la aorta torácica Variant patògena; Medicina de precisió; Aneurisma de l'aorta toràcica Background Pathogenic variants in 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d1dd047cab74d5e5924d446265fa06c
https://hdl.handle.net/11351/8431
https://hdl.handle.net/11351/8431
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Jay B. Patel, Samantha L. Speroni, Dianna M. Milewicz, Jayashree Kalpathy-Kramer, Myoung Choi, Ellen S. Regalado, Patricia L. Musolino, Paul A. Caruso, Edward R. Smith, Arne Lauer
Publikováno v:
Neurology. 96:e538-e552
ObjectiveTo establish progression of imaging biomarkers of stroke, arterial steno-occlusive disease, and white matter injury in patients with smooth muscle dysfunction syndrome caused by mutations in the ACTA2 gene, we analyzed 113 cerebral MRI scans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07efb9255c0bf0f75a532040581c3223
https://doi.org/10.1212/wnl.0000000000011210
https://doi.org/10.1212/wnl.0000000000011210
Autor:
Dongchuan Guo, Natasha Kharas, Michael J. Bamshad, Ellen M. Hostetler, Stephanie E. Wallace, Stéphanie Guey, Markus Kraemer, Anjail Sharrief, Ellen S. Regalado, Deborah A. Nickerson, Alana C. Cecchi, Manoelle Kossorotoff, Elisabeth Tournier-Lasserve, Amélie Pinard, Françoise Bergametti, Dianna M. Milewicz, Edward R. Smith, Dominique Hervé
Publikováno v:
Genet Med
PURPOSE: Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a2d394fd7a88d77f484623439d01fd
https://doi.org/10.1038/s41436-019-0639-2
https://doi.org/10.1038/s41436-019-0639-2
Autor:
C. Dominguez-Tagle, M. Collados, R. Lopez, J. J. Vaz Cedillo, M. A. Esteves, O. Grassin, N. Vega, A. Mato, J. Quintero, H. Rodriguez, S. Regalado, F. Gonzalez
Publikováno v:
World Scientific
An Integral Field Unit (IFU) based on image slicers has been added to the GREGOR Infrared Spectrograph (GRIS). This upgrade to the instrument makes possible 2D spectropolarimetry in the near-infrared by simultaneously recording the full Stokes profil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2c2a9d251e4c26a20c06a3b3b8226c8
Autor:
Kwanghyuk Lee, Pauline Arnaud, Guillaume Jondeau, Dianna M. Milewicz, Sarah Dyack, Julie De Backer, Rajani D. Aatre, Stephanie E. Wallace, Dongchuan Guo, Catherine Boileau, Andrea L. Rideout, Ellen S. Regalado, Ellen M. Hostetler, Nadine Hanna, Bert Callewaert, Laura Muiño-Mosquera, Suzanne M. Leal
Publikováno v:
Journal of Medical Genetics. 56:252-260
BackgroundPathogenic variants inSMAD3cause thoracic aortic aneurysms and dissections, along with aneurysms and rupture of other arteries. Here, we examined differences in clinical presentation of aortic events (dissection or surgical repair of an ane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea2df80b76c6472009897942c3d77dfd
https://doi.org/10.1136/jmedgenet-2018-105583
https://doi.org/10.1136/jmedgenet-2018-105583
Autor:
Alexandra Janda, Stephanie E. Wallace, Claudio F. Russo, Dongchuan Guo, Guillaume Jondeau, Dianna M. Milewicz, Ellen M. Hostetler, Catherine Boileau, Nadine Hanna, Roberto Colombo, Tami Johnston, Bo Carlberg, Kwanghyuk Lee, Christian Antolik, Ellen S. Regalado, Suzanne M. Leal, Limin Gong, Richard J. Kulmacz, Matias Hannuksela, Pauline Arnaud
Publikováno v:
Genetics in Medicine. 21:144-151
Purpose: Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61c490cd42b72834e9fd8f7364652c6
https://doi.org/10.1038/s41436-018-0038-0
https://doi.org/10.1038/s41436-018-0038-0