Results 51 to 60 of about 19,355 (211)

Seminoma in Marfan's syndrome [PDF]

open access: yesPostgraduate Medical Journal, 1979
Summary A patient with a testicular seminoma and Marfan's syndrome is described. The association is unlikely to be by chance alone, and an explanation in terms of either an associated congenital defect, or a minor chromosomal anomaly, is discussed.
C. H. Collis, A. A. Epenetos
openaire   +2 more sources

The future of electronic health record‐based research: Leveraging informatics in genetic counseling research

open access: yesJournal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract As health care embraces learning health systems, data‐oriented approaches provide a path for genetic counselors to actively contribute to improving clinical care through evidence‐driven insights. The informatics‐driven querying of electronic health record (EHR) data in genetic counseling has the potential to advance clinical practice, quality ...
Samantha E. Greenberg   +3 more
wiley   +1 more source

Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia

open access: yesAsian Journal of Surgery, 2017
Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature ...
Shruti Thakur   +4 more
doaj   +1 more source

The Interconnected World of Dermatology and Ophthalmology

open access: yesJEADV Clinical Practice, Volume 4, Issue 2, Page 389-399, June 2025.
Medical science, is an integrated field that shares intricate relationship between various organ systems. Similarly, dermatology is inter‐related with various other specialties including ophthalmology. This article depicts the correlation of ophthalmology and dermatology iterating on the genetic diseases, autoimmune diseases, systemic disorders ...
Gyanesh Rathore   +4 more
wiley   +1 more source

Marfan and Marfan-like syndromes

open access: yesArtery Research, 2009
With the help of both clinical and genetic diagnostic tools, the spectrum of inherited disorders affecting the arterial system has extended tremendously over the past decades. Discriminating these different entities is important since prognosis and treatment may differ substantially according to the diagnosis. Here we provide an overview of the current
Bart Loeys, A De Paepe, J. De Backer
openaire   +3 more sources

Resveratrol: Molecular Mechanisms, Health Benefits, and Potential Adverse Effects

open access: yesMedComm, Volume 6, Issue 6, June 2025.
As a polyphenol substance with important potential, resveratrol has important potential in degenerative diseases, cardiovascular diseases, cancer, neurological diseases, etc. However, it is still necessary to pay attention to its bioavailability and potential adverse effects.
Zhuo‐qun Ren   +8 more
wiley   +1 more source

Ageing in Marfan Syndrome

open access: yesInternational Journal of Clinical Practice, 2007
Marfan syndrome (MFS) is a dominantly inherited connective tissue disorder caused by mutations in the fibrillin-1 gene. Past research has focused on younger patients as lifespan was known to be significantly reduced. This study aims to describe the complications, including those affecting the eyes, heart and musculoskeletal system, faced by older ...
Ali Hasan   +2 more
openaire   +3 more sources

The Marfan syndrome genetics

open access: yesZdravniški Vestnik, 2005
Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
doaj  

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