Search Results - "Dorfman, Aaron T"
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
Published in American journal of medical genetics. Part A (01-05-2022)“…Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases…”
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The Turner syndrome research registry: Creating equipoise between investigators and participants
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-03-2019)“…To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner…”
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Critical heart disease in the neonate: presentation and outcome at a tertiary care center
Published in Pediatric critical care medicine (01-03-2008)“…To define the modes of presentation, incidence of major organ dysfunction, predictors of hospital mortality, and adverse outcomes in neonates with critical…”
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Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Published in American journal of medical genetics. Part A (01-10-2024)“…Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed…”
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Repair of arch hypoplasia and ventricular septal defect in unseparated, pyopagus conjoined twins
Published in JTCVS techniques (01-09-2020)Get full text
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Repair of arch hypoplasia and ventricular septal defect in unseparated, pyopagus conjoined twins
Published in JTCVS techniques (01-09-2020)Get full text
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