American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Comparison Between Moxifloxacin and Chloramphenicol for the Treatment of Bacterial Eye Infections. [PDF]
Curr Ther Res Clin ExpGentili V +7 more
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Minimum inhibitory concentrations and resistance for selected antimicrobial agents (including imipenem, linezolid and tigecycline) of bacteria obtained from eye infections. [PDF]
Rom J Ophthalmol, 2020 Galvis V +5 more
europepmc +1 more source
Intelligent data mining using artificial neural networks and genetic algorithms : techniques and applications [PDF]
Data Mining (DM) refers to the analysis of observational datasets to find relationships and to summarize the data in ways that are both understandable and useful. Many DM techniques exist.
Yang, Jianhua
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Targets for the diagnosis of <i>Acanthamoeba</i> eye infections include four cyst wall proteins and the mannose-binding domain of the trophozoite mannose-binding protein. [PDF]
mSphereKanakapura Sundararaj B +2 more
europepmc +1 more source
Orbital abscess caused by Exophiala dermatitidis following posterior subtenon injection of triamcinolone acetonide: a case report and a review of literature related to Exophiala eye infections. [PDF]
BMC Infect Dis, 2020 Iwahashi C +7 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Spectrum of pathogens involved in eye infections observed at a rural hospital
Introduction: Infections of the eye and the surrounding structures may lead to serious complications including vision loss and death. In some cases, immediate intervention and aggressive treatment are necessary for preservation of vision.
Rosario, Junius +4 more
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