Results 91 to 100 of about 316,762 (267)
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
EP-256 - IMPACTOS DO VÍRUS DA ZIKA NA FERTILIDADE MASCULINA
Brazilian Journal of Infectious DiseasesIntrodução: O vírus Zika (ZIKV), pertencente ao gênero Flavivirus, é conhecido por ser transmitido principalmente pela picada de mosquitos do gênero Aedes.
Laura Vale Farao +4 more
doaj +1 more source
Artificial Intelligence (AI) and Agribusiness: From Automation to Augmentation in a Global Context
Agribusiness, EarlyView.
Alexis H. Villacis
wiley +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Viagem(ns) a Santos Journey(s) to Santos
História, Ciências, Saúde: Manguinhos, 1998 O artigo busca lançar algumas luzes sobre a construção do laboratório de Manguinhos, recontando um de seus episódios precursores: a viagem a Santos empreendida em 1899 por Oswaldo Cruz, um jovem médico às vésperas de tornar-se herói nacional enquanto símbolo brasileiro da ciência.
openaire +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley +1 more source
ACUTE MYOCARDITIS CAUSED BY COXSACKIE B VIRUS IN A PATIENT LIVING WITH HIV: A CASE REPORT
Brazilian Journal of Infectious DiseasesMyocarditis is a disease with multifactorial etiology, and viruses are the main infectious agents associated with it. Among viruses, Coxsackie B is widely described as a direct cause of myocardial injury.
Helena Soares Feijoó +4 more
doaj +1 more source