Mitral valve prolapse: clinical variants, current understanding
Лечащий Врач, 2021 The article covers clinical diversity of mitral prolapse, deliberating ambiguous prognosis in patients with mitral valve prolapse (MVP) and different tactics of their management. The greatest attention is paid to primary MVP as the only variant of mitral
A. V. Klemenov
doaj
HEMOPHILIC MENINGITIS IN CHILDREN
Детские инфекции (Москва), 2015 Bacterial purulent meningitis (BPM) was detected and treated in 63children aged from 1 month till 17 years during 2006—2010. 63,5% (40 patients) of patients were children of first three years old.
T. V. Egorova +3 more
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Frontotemporal dementia: peculiarities of clinical variants
Neurologijos seminarai, 2021 Frontotemporal dementia (FTD) is a group of neurodegenerative diseases that cause atrophy of the frontal and temporal lobes of the brain. The most common clinical variants of FTD are a behavioural variant characterized by disinhibition, apathy, lack of ...
B. Klimbytė, A. Vaitkus
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Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
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Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families [PDF]
, 2017 The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of ...
Antoniou +45 more
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Clinical variants of mycosis fungoides in a cohort [PDF]
Gaceta Médica de México, 2021 Mycosis fungoides (MF) is the most common primary skin T-cell lymphoma, which is characterized for a heterogeneous clinical expressivity.To report clinical variants and sociodemographic characteristics in patients with MF under the care of a dermatological hospital.290 patients with MF clinical and histopathological diagnosis attended to over the ...
María Antonieta, Domínguez-Gómez +3 more
openaire +2 more sources
Clinical variants, stages, and management of basal cell carcinoma
Indian Dermatology Online Journal, 2013 Basal cell carcinoma (BCC) is the most common paraneoplastic disease among human neoplasms. The tumor affects mainly photoexposed areas, most often in the head and seldom appears on genitalia and perigenital region.
Lyubomir A Dourmishev +2 more
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Characterizing genetic variants for clinical action [PDF]
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014 Genome‐wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients.
Erin M. Ramos +34 more
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Clinical impact of splicing in neurodevelopmental disorders. [PDF]
, 2020 Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice ...
Farh, Kyle Kai-How +2 more
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Apolipoprotein L1 gene variants associate with prevalent kidney but not prevalent cardiovascular disease in the Systolic Blood Pressure Intervention Trial. [PDF]
, 2015 Apolipoprotein L1 gene (APOL1) G1 and G2 coding variants are strongly associated with chronic kidney disease (CKD) in African Americans (AAs). Here APOL1 association was tested with baseline estimated glomerular filtration rate (eGFR), urine albumin ...
Bild, Diane E +14 more
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