Results 211 to 220 of about 634,607 (352)

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

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 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

A meta analysis of pulmonary vein isolation compared with additional ablation strategies for atrial fibrillation. [PDF]

open access: yesBMC Cardiovasc Disord
Saleem MM   +9 more
europepmc   +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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