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Case of Refractory Classic Hodgkin Lymphoma With a Germline Pathogenic Monoallelic Variant in the TNFRSF13B Gene.
Pediatr Blood Cancer
December 2024
Pediatric Oncology Unit, HM CIOCC MADRID (Centro Integral Oncológico Clara Campal), Hospital Universitario HM Montepríncipe, HM Hospitales, Madrid, Spain.
Factors influencing the colorectal surveillance adherence in Lynch Syndrome: A retrospective monocentric study.
Tumori
December 2024
Hereditary Digestive Tract Tumors Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.
View Article and Find Full Text PDFUncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.
BMC Pregnancy Childbirth
December 2024
Department of Obstetrics, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Prenatal whole exome sequencing (WES) is becoming an increasingly used diagnostic tool for fetuses with structural anomalies. However, the identification of variants of uncertain significance (VUS) in clinically relevant genes can significantly complicate prenatal diagnosis and genetic counseling.
Case Presentation: A fetus conceived through in vitro fertilization at the third attempt presented with polydactyly and molar tooth sign at 24 + 6 weeks of gestation.
The causal association between asthma and the risk of frailty: A two-sample Mendelian randomization study.
Aging Clin Exp Res
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Department of Geriatric Neurology, Shaanxi Provincial People's Hospital, No.256, Youyi West Road, Xi'an 710068, China.
Background: The correlation between asthma and frailty is increasingly garnering attention. The association between asthma and frailty remains inconclusive in observational studies, and the causality of this relationship still needs to be established.
Aims: Therefore, we employed two-sample Mendelian randomization analyses using genetic instruments to determine the causal association of asthma on frailty.
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
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