H
Hal Dietz
Researcher at Johns Hopkins University School of Medicine
Publications - 13
Citations - 891
Hal 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 8, co-authored 12 publications receiving 746 citations. Previous affiliations of Hal Dietz include Johns Hopkins University.
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Journal ArticleDOI
Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study
Laurence Faivre,Gwenaëlle Collod-Béroud,Gwenaëlle Collod-Béroud,Bart Loeys,Anne H. Child,Christine Binquet,Elodie Gautier,Bert Callewaert,Eloisa Arbustini,Kenneth H. Mayer,Mine Arslan-Kirchner,A Kiotsekoglou,P Comeglio,Nicola Marziliano,Hal Dietz,Dorothy Halliday,Christophe Béroud,Christophe Béroud,Claire Bonithon-Kopp,Mireille Claustres,Christine Muti,H. Plauchu,Peter N. Robinson,Lesley C. Adès,Andrew Biggin,B. Benetts,Maggie Brett,Katherine Holman,J. De Backer,Paul Coucke,Uta Francke,A. De Paepe,Guillaume Jondeau,Catherine Boileau +33 more
TL;DR: In this paper, the authors investigated the correlation between the fibrillin-1 (FBN1) genotype and the nature and severity of the clinical phenotype, including skeletal, cardiovascular, ophthalmologic, skin, pulmonary, and dural.
Journal ArticleDOI
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
Dorien Schepers,Giada Tortora,Giada Tortora,Hiroko Morisaki,Gretchen MacCarrick,Mark E. Lindsay,David Liang,Sarju G. Mehta,Jennifer Hague,Judith M.A. Verhagen,Ingrid M.B.H. van de Laar,Marja W. Wessels,Y. Detisch,Mieke M. van Haelst,Annette F. Baas,Klaske D. Lichtenbelt,Kees P.J. Braun,Denise van der Linde,Jolien W. Roos-Hesselink,George McGillivray,Josephina A.N. Meester,Isabelle Maystadt,Paul Coucke,Elie El-Khoury,Sandhya Parkash,Birgitte Rode Diness,Lotte Risom,Ingrid Scurr,Yvonne Hilhorst-Hofstee,Takayuki Morisaki,Julie Richer,Julie Désir,Marlies Kempers,Andrea L. Rideout,Gabrielle Horne,Christopher P. Bennett,Elisa Rahikkala,Geert Vandeweyer,Maaike Alaerts,Aline Verstraeten,Hal Dietz,Lut Van Laer,Bart Loeys,Bart Loeys +43 more
TL;DR: The clinical manifestations of LDS clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified, and the role of disturbed TGF‐β signaling in LDS pathogenesis is emphasized.
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Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys‐Dietz syndromes
Machteld Baetens,Lut Van Laer,Kim De Leeneer,Jan Hellemans,Jan Hellemans,Joachim De Schrijver,Hendrik Van de Voorde,Marjolijn Renard,Hal Dietz,Ronald V. Lacro,B Menten,Wim Van Criekinge,Julie De Backer,Anne De Paepe,Bart Loeys,Paul Coucke,Paul Coucke +16 more
TL;DR: It is concluded that multiplex PCR of all coding exons of FBN1 and TGFBR1/2 followed by NGS analysis and MLPA is a robust strategy for time‐ and cost‐effective identification of mutations.
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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,Richard B. Devereux,Hal Dietz,Kathryn W. Holmes,Kim A. Eagle,Scott A. LeMaire,Dianna M. Milewicz,Shaine A. Morris,Reed E. Pyeritz,William Ravekes,Ralph V. Shohet,Michael Silberbach +13 more
TL;DR: Pregnancy in MFS is associated with an increased risk of aortic dissection, both types A and B, particularly in the immediate postpartum period, and the need for early diagnosis, prepregnancy risk counseling, and multidisciplinary peripartum management is underscored.
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A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease
TL;DR: A perspective on the important progress made over the past decade in the understanding of the genetics of thoracic aortic disease, with an emphasis on the more frequent forms of vascular smooth muscle and transforming growth factor β (TGF-β) signalling alterations.