Concepedia

Hal Dietz

HD

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Publications

13

Citations

1.5K

H-Index

12

Active since

1991

Affiliations

Johns Hopkins University(Current)

Johns Hopkins Medicine

Oregon Health & Science University

Baylor College of Medicine

The University of Texas Health Science Center at Houston

Hal Dietz is an author at Johns Hopkins University specializing in medicine, genetics, and molecular genetics.

Publications per year

1991–2024

13

Publications

13

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

Lawrence M. Nogee, Gérard Garnier, Hal Dietz et al. · Journal of Clinical Investigation · 1994 · 567 citations · Full text

Medicine, Genetics, Molecular Genetics +15

A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

Dorien Schepers, Giada Tortora, Hiroko Morisaki et al. · Human Mutation · 2018 · 168 citations · Full text

Medicine, Craniofacial Biology, Molecular Genetics +17

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Hal Dietz, Reed E. Pyeritz, Erik G. Puffenberger et al. · Journal of Clinical Investigation · 1992 · 155 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1

V J Rodrigues, Solaf M. Elsayed, Bart Loeys et al. · American Journal of Neuroradiology · 2009 · 124 citations · Full text

Medicine, Neurology, Radiology +17

Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC)

Mary J. Roman, Norma Pugh, Tabitha Hendershot et al. · Journal of the American Heart Association · 2016 · 110 citations · Full text

Medicine, Cardiology, Obstetrics +14

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