Results 101 to 110 of about 596,047 (352)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Prevalence and Pattern of Microbial Resistance of Urinary Pathogens Resistant to Quinolones [PDF]

open access: yesBeyhagh
Background and Aim: Urinary tract infection is an infection in any part of the urinary system including kidneys, ureters, bladder and urethra. Most infections involve the lower urinary tract such as the bladder and urethra. Women are more susceptible to
Zeinab Siami
doaj  

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim   +2 more
wiley   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Advances in miRNA research: Unraveling the complexities of gene regulation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Overview of miRNA‐mediated regulation in key biological processes. This illustration offers a comprehensive view of the diverse functions that microRNAs perform in governing various biological processes, highlighting their profound significance within the complex web of gene expression and cellular function.
Jiawei Zheng, Guoqing Zhang, Linzhu Ren
wiley   +1 more source

Exenatide Once Weekly in the Treatment of Patients with Multiple System Atrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Exenatide, a glucagon‐like peptide‐1 (GLP‐1) receptor agonist, has neuroprotective effects in preclinical models of multiple system atrophy (MSA). We investigated these effects in a proof‐of‐concept clinical trial. Methods In this single‐center, randomized, open label trial, participants with MSA were randomly assigned (1:1) to receive ...
Nirosen Vijiaratnam   +29 more
wiley   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

open access: yesAnnals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko   +9 more
wiley   +1 more source

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