Results 211 to 220 of about 1,638,165 (347)

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Impact of diabetes mellitus type-2 on the outcomes following mitral transcatheter edge-to-edge repair (TEER): A meta-analysis. [PDF]

open access: yesAm Heart J Plus
Chigurupati HD   +13 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst   +4 more
wiley   +1 more source

Comparison of the effects of metformin, citral, Cymbopogon citratus extract and silver nanoparticles of Cymbopogon citratus extract on oxidative stress indices and Nrf2 levels in experimental type 2 diabetes in rats

open access: yesAnimal 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

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