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Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1

Autor: B. L. Loeys, H. C. Dietz, David M. Yousem, S. Elsayed, V. J. Rodrigues

Publikováno v: AJNR Am J Neuroradiol

BACKGROUND AND PURPOSE: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f9bd90d30428793a44b195cd496eaed
https://doi.org/10.3174/ajnr.a1651

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Autor: A Blaszczyk, Alan S. Berkeley, H. C. Dietz, Y. X. Tang, James A. Grifo, Alexis Adler, Lewis Krey

Publikováno v: Journal of Assisted Reproduction and Genetics. 15:281-284

Purpose:Single-cell nested polymerase chain reaction (PCR) and Dde1 endonuclease digestion were used to detect the presence of a Marfan's syndrome mutation in human preimplantation embryos derived from in vitro fertilization (IVF). These procedures w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f60131bd3bdcb3d2e53740364a4ebd66
https://doi.org/10.1023/a:1022540410290

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The Marfan syndrome and the cardiovascular surgeon

Autor: C D Stone, A M Gillinov, Victor A. McKusick, K J Fleischer, Diane Alejo, Duke E. Cameron, H C Dietz, G J Anhalt, Peter S. Greene, Reed E. Pyeritz, Vincent L. Gott, John C. Laschinger

Publikováno v: European Journal of Cardio-Thoracic Surgery. 10:149-158

The authors present the current status of surgery for the cardiovascular manifestations of the Marfan syndrome. In addition, a brief review of current Marfan genetic research is presented. Data on all Marfan patients undergoing aortic root replacemen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42c27d04f2fca9c8dc28255bf10a6049
https://doi.org/10.1016/s1010-7940(96)80289-2

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Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

Autor: A. De Paepe, Paul Coucke, BP Leroy, J. De Backer, H C Dietz, Bart Loeys

Publikováno v: Clinical genetics. 72(3)

The diagnosis of Marfan syndrome may be hampered by the existence of very mild and atypical cases as well as by marked intrafamilial variability. In these instances, molecular analysis of the fibrillin-1 gene (FBN1) can be helpful to identify individ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f7ee7647b2bc220dc8f10f400bafcc
https://pubmed.ncbi.nlm.nih.gov/17718856

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Endothelial dysfunction and compromised eNOS/Akt signaling in the thoracic aorta during the progression of Marfan syndrome

Autor: A W Y, Chung, K, Au Yeung, S F, Cortes, G G S, Sandor, D P, Judge, H C, Dietz, C, van Breemen

Publikováno v: British journal of pharmacology. 150(8)

Aortic complications account for the major mortality in Marfan syndrome (MFS), a connective tissue disorder caused by mutations in FBN1 encoding fibrillin-1. We hypothesized that MFS impaired endothelial function and nitric oxide (NO) production in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::93935f3c243923940101db153fdb38a7
https://pubmed.ncbi.nlm.nih.gov/17339838

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The molecular genetics of Marfan syndrome and related disorders

Autor: Penny A. Handford, H C Dietz, Dianna M. Milewicz, Francesco Ramirez, Emilio Arteaga-Solis, Kerstin Tiedemann, P. Booms, Cay M. Kielty, Gwenaëlle Collod-Béroud, Daniel P. Judge, A De Paepe, Gao Guo, Andreas Ney, Dieter P. Reinhardt, Bart Loeys, Pat Whiteman, Peter N. Robinson, Clair Baldock, Maurice Godfrey

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2006, 43 (10), pp.769-87. ⟨10.1136/jmg.2005.039669⟩
Journal of Medical Genetics, BMJ Publishing Group, 2006, 43 (10), pp.769-87. ⟨10.1136/jmg.2005.039669⟩

Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d543025652fa90aa90491c8dd7949999
http://ora.ox.ac.uk/objects/uuid:e624d02b-b458-4f4e-8edb-6c8669def4cb

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When the message goes awry: disease-producing mutations that influence mRNA content and performance

Autor: J T, Mendell, H C, Dietz

Publikováno v: Cell. 107(4)

Mutations that cause disease commonly occur in the coding sequence and directly influence protein structure and function. However, many diseases result from mutations that influence various aspects of mRNA metabolism, including processing, export, st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0d2049f2ea838ca0a9abd520bdb519d1
https://pubmed.ncbi.nlm.nih.gov/11719181

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Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome

Autor: D P, Judge, N J, Biery, H C, Dietz

Publikováno v: American journal of medical genetics. 99(1)

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue with marked interfamilial and intrafamilial variation in phenotype. The primary defect in affected patients resides in the gene for fibrillin-1 (FBN1) on 15q21. Linkage anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::364ef83714c57b55fd2c201b5cb43a26
https://pubmed.ncbi.nlm.nih.gov/11170092

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