Results 171 to 180 of about 536,995 (305)
Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.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
Diabetes prevalence and socioeconomic status: a population based study showing increased prevalence of type 2 diabetes mellitus in deprived areas [PDF]
, 2000 V. Connolly
openalex +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones +6 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source
HMG-CoA Reductase Inhibitors Increase BMD in Type 2 Diabetes Mellitus Patients* [PDF]
, 2000 Yoon‐Sok Chung +4 more
openalex +1 more source
Do Skin Prick Tests Predict Nasal Provocation Test Outcomes in Allergic Rhinitis Patients?
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background In diagnosing allergic rhinitis (AR), conventional skin prick tests (SPTs) often fail to reflect allergen‐induced nasal symptoms. Conversely, nasal provocation tests (NPTs) provide more definitive assessments but are less accessible.
Yunhyung Lee +3 more
wiley +1 more source
Early-life programming of susceptibility to dysregulation of glucose metabolism and the development of Type 2 diabetes mellitus [PDF]
, 2000 Mark J. Holness +2 more
openalex +1 more source
Animal Models and Experimental Medicine, EarlyView.The experimental type 2 diabetes model in rats induced by streptozotocin and nicotinamide showed that silver nanoparticles synthesized from lemongrass extract modulate blood glucose, water and food intake, and enhance antioxidant enzyme synthesis and weight gains.
Milad Faraji +6 more
wiley +1 more source