Results 111 to 120 of about 92,310 (290)
Mitral Valve Replacement in Children and Adolescents with Rheumatic Heart Disease
Stanley John+3 more
openalex +2 more sources
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear+16 more
wiley +1 more source
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods+16 more
wiley +1 more source
Aim of the study: to evaluate the degree of statistical association between the oral parameter represented by the total number of permanent lost teeth (NLT) on both arches, and a certain type of cardiovascular disease.
Mirela Mihart+10 more
doaj +1 more source
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter+6 more
wiley +1 more source
One-stage treatment of aortic coarctation associated with coronary heart disease, ascending aortic aneurysm, and aortic valve stenosis with an extra-anatomic ascending-descending aortic bypass [PDF]
C. Kühn+5 more
openalex +1 more source
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff+8 more
wiley +1 more source
Serotonin and catecholamines in the development and progression of heart valve diseases. [PDF]
Goldberg E+5 more
europepmc +1 more source