Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Sara B. Stephens"'
Autor:
Sara B. Stephens, Tyler Novy, Gabrielle N. Spurzem, Benjamin Jacob, Taylor Beecroft, Emily Soludczyk, Beth A. Kozel, Justin Weigand, Shaine A. Morris
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 8 (2024)
Background We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS). Methods and Results This retrospective cohort study included patients
Externí odkaz:
https://doaj.org/article/a6f4c9205229419ba3cbb1d911547173
Autor:
Sara B. Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li, Michael Huang, Seitaro Oda, Kalyan Kancherla, Tam T. Doan, Siddharth K. Prakash, Justin D. Weigand, Federico M. Asch, Taylor Beecroft, Alana Cecchi, Teniola Shittu, Liliana Preiss, Scott A. LeMaire, Richard B. Devereux, Reed E. Pyeritz, Kathryn W. Holmes, Mary J. Roman, Ronald V. Lacro, Ralph V. Shohet, Rajesh Krishnamurthy, Kim Eagle, Peter Byers, Dianna M. Milewicz, Shaine A. Morris
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 19 (2023)
Background Arterial tortuosity is associated with adverse events in Marfan and Loeys‐Dietz syndromes but remains understudied in Vascular Ehlers‐Danlos syndrome. Methods and Results Subjects with a pathogenic COL3A1 variant diagnosed at age
Externí odkaz:
https://doaj.org/article/baafb229fe084535a00ef7c97ecf8d3c
Autor:
Christina Y. Miyake, Erica J. Lay, Claudia Soler-Alfonso, Kevin E. Glinton, Kimberly M. Houck, Mustafa Tosur, Nancy E. Moran, Sara B. Stephens, Fernando Scaglia, Taylor S. Howard, Jeffrey J. Kim, Tam Dam Pham, Santiago O. Valdes, Na Li, Chaya N. Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne Beach, Gregory Webster, Leonardo Liberman, Christopher M. Janson, Prince J. Kannankeril, Samantha Baxter, Moriel Singer-Berk, Jordan Wood, Samuel J. Mackenzie, Michael Sacher, Lina Ghaloul-Gonzalez, Claudia Pedroza, Shaine A. Morris, Saad A. Ehsan, Mahshid S. Azamian, Seema R. Lalani
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. The purpose of th
Autor:
Sara B. Stephens, Melissa Russo, Sherene Shalhub, Taylor Beecroft, Justin Weigand, Dianna M. Milewicz, Shaine A. Morris
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(10)
Birth outcomes data for patients with vascular Ehlers-Danlos syndrome (VEDS) are limited.Patients with a pathogenic or likely pathogenic COL3A1 variant were included. Outcomes included gestational age (GA), birthweight (BW), and maternal complication
Autor:
Christina Y. Miyake, Erica J. Lay, Cheyenne M. Beach, Scott R. Ceresnak, Caridad M. Delauz, Taylor S. Howard, Christopher M. Janson, Kate Jardine, Prince J. Kannankeril, Maina Kava, Jeffrey J. Kim, Leonardo Liberman, Scott L. Macicek, Tam Dam Pham, Terry Robertson, Santiago O. Valdes, Gregory Webster, Sara B. Stephens, Diana M. Milewicz, Mahshid Azamian, Saad A. Ehsan, Kimberly M. Houck, Claudia Soler-Alfonso, Kevin E. Glinton, Mustafa Tosur, Na Li, Weiyi Xu, Seema R. Lalani, Lilei Zhang
Publikováno v:
Heart rhythm. 19(10)
TANGO2 deficiency disorder (TDD) is an autosomal recessive disease associated with metabolic crisis, lethal cardiac arrhythmias, and cardiomyopathy. Data regarding treatment, management, and outcomes of cardiac manifestations of TDD are lacking.The p
Autor:
Judson A. Moore, Sara B. Stephens, Naomi J. Kertesz, Danyelle L. Evans, Jeffrey J. Kim, Taylor S. Howard, Tam Dan Pham, Santiago O. Valdés, Caridad M. de la Uz, Tia T. Raymond, Shaine A. Morris, Christina Y. Miyake
Publikováno v:
Journal of the American College of Cardiology. 80(12)
Data regarding recurrence risk among infants with supraventricular tachycardia (SVT) are limited.The purpose of this study was to determine incidence and factors associated with SVT recurrence.This was a retrospective single-center study (1984-2020)