H
Harry C. Dietz
Researcher at Johns Hopkins University School of Medicine
Publications - 318
Citations - 43494
Harry C. Dietz is an academic researcher from Johns Hopkins University School of Medicine. The author has contributed to research in topics: Marfan syndrome & Aortic aneurysm. The author has an hindex of 96, co-authored 307 publications receiving 39693 citations. Previous affiliations of Harry C. Dietz include Howard Hughes Medical Institute & Ghent University.
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Journal ArticleDOI
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.
Harry C. Dietz,Carry R. Cutting,Reed E. Pyeritz,Cheryl L. Maslen,Lynn Y. Sakai,Lynn Y. Sakai,Glen M. Corson,Erik G. Puffenberger,Ada Hamosh,Elizabeth J. Nanthakumar,Sheila Curristin,Gail Stetten,Deborah A. Meyers,Clair A. Francomano +13 more
TL;DR: Fibrillin is implicate as the protein defective in patients with the Marfan syndrome and a de novo missense mutation in the fibrillin gene is described in two patients with sporadic disease.
Journal ArticleDOI
The revised Ghent nosology for the Marfan syndrome
Bart Loeys,Harry C. Dietz,Alan C. Braverman,Bert Callewaert,Julie De Backer,Richard B. Devereux,Yvonne Hilhorst-Hofstee,Guillaume Jondeau,Laurence Faivre,Dianna M. Milewicz,Reed E. Pyeritz,Paul D. Sponseller,Paul Wordsworth,Anne De Paepe +13 more
TL;DR: A revised Ghent nosology is established, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features and may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis.
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Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome.
Jennifer P Habashi,Daniel P. Judge,Tammy M. Holm,Ronald D. Cohn,Bart Loeys,Timothy K. Cooper,Loretha Myers,Erin C Klein,Guosheng Liu,Carla L. Calvi,Megan Podowski,Enid Neptune,Marc K. Halushka,Djahida Bedja,Kathleen L. Gabrielson,Daniel B. Rifkin,Luca Carta,Francesco Ramirez,David L. Huso,Harry C. Dietz +19 more
TL;DR: Losartan, a drug already in clinical use for hypertension, merits investigation as a therapeutic strategy for patients with Marfan syndrome and has the potential to prevent the major life-threatening manifestation of this disorder.
Journal ArticleDOI
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
Bart Loeys,Junji Chen,Enid Neptune,Daniel P. Judge,Megan Podowski,Tammy M. Holm,Jennifer Meyers,Carmen C. Leitch,Nicholas Katsanis,Neda A. Sharifi,F Lauren Xu,Loretha Myers,Philip J. Spevak,Duke E. Cameron,Julie De Backer,Jan Hellemans,Yan Chen,Elaine C. Davis,Catherine L. Webb,Wolfram Kress,Paul Coucke,Daniel B. Rifkin,Anne De Paepe,Harry C. Dietz +23 more
TL;DR: These data definitively implicate perturbation of TGFβ signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events.
Journal ArticleDOI
Revised diagnostic criteria for the Marfan syndrome.
TL;DR: More stringent requirements for diagnosis of the Marfan syndrome in relatives of an unequivocally affected individual; skeletal involvement as a major criterion if at least 4 of 8 typical skeletal manifestations are present; and potential contribution of molecular analysis to the diagnosis of Marfan Syndrome are proposed.