Hal Dietz

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 · 565 citations · Full text

Asthma, Index Family, Pulmonary Surfactant +20

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 · 160 citations · Full text

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

Genetics, Genetic Epidemiology, Pathology +21

Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1

V J Rodrigues, Solaf M. Elsayed, Bart Loeys et al. · American Journal of Neuroradiology · 2009 · 122 citations · Full text

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 · 106 citations · Full text