Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Amy, Shikany"'
Autor:
Nicole Weaver, Erin Miller, Cara Barnett, Nicole Brown, Ashley Neal, Alissa Meek, Amy Shikany
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101375- (2024)
Externí odkaz:
https://doaj.org/article/c471b107423e47f5868cbb0f97e86ec7
Autor:
Nicole Weaver, Amy Shikany, Emile Vieta, Bianca Russell, Bruce Lerman, Alanna Strong, Dong Li
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100378- (2023)
Externí odkaz:
https://doaj.org/article/06718b25e8e8493bbf38f19ed8018de3
Autor:
K Nicole, Weaver, Jing, Chen, Amy, Shikany, Pete S, White, Carlos E, Prada, Bruce D, Gelb, James F, Cnota
Publikováno v:
Circulation: Genomic and Precision Medicine. 15
Background: Valvar pulmonary stenosis (vPS) accounts for 8% to 12% of congenital heart disease cases. Multiple genetic syndromes are associated with vPS, most commonly Noonan syndrome, but the cause is unknown in most cases. We analyzed genomic data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a9ac999fdd41f8175ba0021b7555f5
https://doi.org/10.1161/circgen.121.003635
https://doi.org/10.1161/circgen.121.003635
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
The variable expressivity and multisystem features of Noonan syndrome (NS) make it difficult for patients to obtain a timely diagnosis. Genetic testing can confirm a diagnosis, but underdiagnosis is prevalent owing to a lack of recognition and referr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afcb33ddaf66d6bb62c40c16e5977307
https://pubmed.ncbi.nlm.nih.gov/36098741
https://pubmed.ncbi.nlm.nih.gov/36098741
Publikováno v:
Cardiogenetics, Vol 5, Iss 1 (2015)
CHARGE is a well-characterized syndrome (OMIM 2148400) associated with multiple congenital anomalies including cardiovascular malformations. Mutations in CHD7 are the most common cause of CHARGE syndrome. Persistent left superior vena cava (LSVC) has
Externí odkaz:
https://doaj.org/article/55edf12a98da4d7484987bc6ad87c8ba
Autor:
Geeske van Woerden, Richelle Senden, Charlotte de Konink, Rossella Avagliano Trezza, anwar baban, Jennifer Bassetti, Yolande Van Bever, Lynne Bird, Bregje van Bon, Alice Brooks, Qiaoning Guan, Eric Klee, Carlo Marcelis, Joel Morales-Rosado, Lisa Schimmenti, Amy Shikany, Paulien Terhal, Kathryn Weaver, Marja Wessels, Hester van Wieringen, Anna Hurst, Catherine Gooch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas
Mitogen-Activated Protein 3 Kinase 7 (MAP3K7, MIM 602614) encodes the ubiquitously expressed transforming growth factor β (TGF-β)–activated kinase 1 (TAK1), which plays a crucial role in many cellular processes. Variants in the MAP3K7 gene have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d071d1b505bd9fbdcafd98c20546d9e3
https://doi.org/10.22541/au.163741470.06165246/v1
https://doi.org/10.22541/au.163741470.06165246/v1
Publikováno v:
Genetics in Medicine. 24:S51-S52
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb68fe068a95c33fcc71672fb723bde7
https://doi.org/10.1016/j.gim.2022.01.115
https://doi.org/10.1016/j.gim.2022.01.115
Autor:
Shannon K, Powell, Hassan, Almeneisi, Tarek, Alsaied, Amy, Shikany, Laura, Riley, Erin, Miller, Alyce, Belonis, Kathryn Nicole, Weaver, Nicole, Brown, Shumpei, Mori, Justin T, Tretter
Publikováno v:
Pediatric cardiology. 42(5)
Progressive aortic dilation is common in Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS). Risk factors for progression are poorly understood. Normal variation in the aortic root (AoR) rotational position relative to the left ventricular base may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e588195fa48af88c6bcb2fafd9f4b004
https://pubmed.ncbi.nlm.nih.gov/33847800
https://pubmed.ncbi.nlm.nih.gov/33847800