In the third in his special series of articles exploring the enduring legacy of Tutankhamun, Zahi Hawass searches for the boy ...

The past 12 months mark a milestone year for the discipline of sports and exercise cardiology.We have seen the publication of two major guideline documents for athletes: the 2025 American Heart Associ ...

Marfan syndrome (MFS) is a systemic heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene. Previous studies have documented the clinical utility of FBN1 mutation ...

Researchers working on an incurable blood cancer can now use a new lab model that could make testing potential new treatments ...

Eggs and embryos from people with polycystic ovary syndrome have altered patterns of so-called epigenetic tags, which could ...

Study results advance understanding of how human cells evolved and could help point to new solutions for patients with rare genetic diseases.

A probable autosomal recessive mode of inheritance is described in a family with two affected sisters. The sisters showed the typical picture of Marfan syndrome and were of normal intelligence. Both ...

Objective Marfan syndrome (MFS)-associated cardiomyopathy, defined as ventricular dilation and dysfunction unexplained by volume loading, is not well defined in children. This study evaluated ...

No other mutations were detected in the total mtDNA sequence in this family. Conclusions This is the first reported case of a double-point mutation in mtDNA, both of which were heteroplasmic and ...

Marfan syndrome (MFS) is a heritable multisystemic disorder with a spectrum of clinical manifestations primarily linked to variants in the Fibrillin-1 (FBN1) ...