MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Magnetic Resonance Imaging"
DOI: 10.1002/jmri.25646
Abstract: To assess small bowel abnormalities on magnetic resonance enterography (MRE) in adult patients with nonresponsive celiac disease (CD) and investigate their associations with endoscopic, histopathologic, serologic, and genetic features. read more here.
Keywords: adult; serologic genetic; celiac disease; enterography nonresponsive ... See more keywords
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families
Sign Up to like & getrecommendations! Published in 2017 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-017-0047-8
Abstract: Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1. Current publications of Chinese CTX were mainly based on case reports. Here we investigated the clinical manifestations, genetic features in Chinese CTX patients.… read more here.
Keywords: chinese ctx; ctx patients; family; genetic features ... See more keywords
Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications.
Sign Up to like & getrecommendations! Published in 2021 at "Chest"
DOI: 10.1016/j.chest.2021.06.037
Abstract: Pulmonary fibrosis comprises a wide range of fibrotic lung diseases with unknown pathogenesis and poor prognosis. Familial pulmonary fibrosis (FPF) represents a unique subgroup of patients in which at least one other relative is also… read more here.
Keywords: fibrosis; genetic features; rare variants; pulmonary fibrosis ... See more keywords
The histologic, immunohistochemical, and genetic features of classical Hodgkin lymphoma and anaplastic large cell lymphoma with aberrant T-cell/B-cell antigen expression.
Sign Up to like & getrecommendations! Published in 2019 at "Human pathology"
DOI: 10.1016/j.humpath.2018.10.003
Abstract: Classical Hodgkin lymphoma (cHL) and ALK- anaplastic large cell lymphoma (ALCL) share many morphologic and immunohistochemical features, causing difficulties in differential diagnosis. Aberrant T-cell/B-cell antigen (TCA/BCA) expression in cHL/ALCL has previously been reported, but differences… read more here.
Keywords: aberrant expression; chl alcl; expression; genetic features ... See more keywords
Genetic Features of Aflatoxin-Associated Hepatocellular Carcinoma.
Sign Up to like & getrecommendations! Published in 2017 at "Gastroenterology"
DOI: 10.1053/j.gastro.2017.03.024
Abstract: BACKGROUND & AIMS Dietary exposure to aflatoxin is an important risk factor for hepatocellular carcinoma (HCC). However, little is known about the genomic features and mutations of aflatoxin-associated HCCs compared with HCCs not associated with… read more here.
Keywords: features aflatoxin; hcc; hccs; genetic features ... See more keywords
Behavioral and genetic features of sleep ontogeny in Drosophila
Sign Up to like & getrecommendations! Published in 2018 at "SLEEP"
DOI: 10.1093/sleep/zsy086
Abstract: The fruit fly Drosophila melanogaster, like most organisms, exhibits increased sleep amount and depth in young compared to mature animals. While the fly has emerged as a powerful model for studying sleep during development, qualitative… read more here.
Keywords: behavioral genetic; sleep ontogeny; ontogeny drosophila; genetic features ... See more keywords
Clinical and genetic features of four patients with Pearson syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000028793
Abstract: Abstract Pearson syndrome (PS) is a multisystem mitochondrial cytopathy arising from deletions in mitochondrial DNA. Pearson syndrome is a sporadic disease that affects the hematopoietic system, pancreas, eyes, liver, and heart and the prognosis is… read more here.
Keywords: clinical genetic; pearson syndrome; four patients; patients pearson ... See more keywords
Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001909
Abstract: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and presents with cytopenias, characteristic physical features, increased chromosomal breaks, and a higher risk of malignancy. Genetic features of this disease vary among… read more here.
Keywords: fanca fancg; features patients; fanconi anemia; mutations fanca ... See more keywords
Clinical and genetic features of 64 young male paediatric patients with congenital hypogonadotropic hypogonadism
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Endocrinology"
DOI: 10.1111/cen.13451
Abstract: The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of hypospadias and dual defects (patients… read more here.
Keywords: features young; clinical genetic; hypogonadotropic hypogonadism; genetic features ... See more keywords
Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria
Sign Up to like & getrecommendations! Published in 2022 at "Haemophilia"
DOI: 10.1111/hae.14579
Abstract: The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone to both haemorrhagic and thrombotic complications. Predictive markers of thrombosis in afibrinogenemia patients are not existent. read more here.
Keywords: clinical biological; biological genetic; afibrinogenemia patient; genetic features ... See more keywords
Clinicopathological‐genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.17417
Abstract: Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine… read more here.
Keywords: neuromuscular centre; congenital myasthenic; genetic features; myasthenic syndrome ... See more keywords