Limitations of current screening methods for lipid disorders in Korean adolescents and a proposal for an effective detection method: a nationwide, cross-sectional study [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Purpose To determine the limitations of current screening methods for lipid disorders and to suggest a new method that is effective for use in Korean adolescents. Methods Data from the 6th Korea National Health and Nutrition Examination Survey (2013–2015)
Jung Hyun Shin +3 more
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A case report of biallelic CHEK2 heterozygous variant presenting with breast cancer
Clinical Case Reports, 2023 Pathogenic germline variants in the CHEK2 gene have been shown to cause a moderate increased risk of breast cancer. Here, we present a striking CHEK2 family with a biallelic carrier of two frameshift pathogenic variants, to draw attention and to ...
Tahereh Soleimani +3 more
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Haematological malignancies in relatives of patients affected with myeloproliferative neoplasms
eJHaem, 2022 In a cohort of 3131 patients with myeloproliferative neoplasms (MPNs), we identified 200 patients (6.4%) who reported a second case of haematological malignancies (HM) in first‐ or second‐degree relatives.
Daniele Vanni +13 more
doaj +1 more source
Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]
, 1999 Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Benninger, C. +4 more
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Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation
Balkan Journal of Medical Genetics, 2022 Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de ...
Sayın Kocakap DB +3 more
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Handedness and social anxiety:using Bryden's research as a catalyst to explore the influence of familial sinistrality and degree of handedness [PDF]
, 2015 Phil Bryden's work has impacted on many areas of laterality, including degree and measurement of hand preference, as well as influences of familial sinistrality (FS). For example, Bryden[(1977). Measuring handedness with questionnaires. Neuropsychologia,
Clark, Lisa +2 more
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Constructing Families: Associative Networks in the Seventeenth-century Cases of Mary and Katherine Hampson [PDF]
, 2015 Wills and other evidence related to the married Mary Hampson and her sister-in-law the never married Katherine Hampson place each within associative networks and detail their financial and emotional situations throughout their lives.
Malay, Jessica L.
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International Journal of Cardiology Congenital Heart DiseaseIntroduction: The number of adults with congenital heart disease has significantly increased in recent years. While telemedicine has emerged as a promising approach to improve care delivery and patient outcomes, its use for adults with congenital ...
Nunzia Borrelli +8 more
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Frontiers in Neurology, 2015 Our understanding of the pathogenesis of Alzheimer disease (AD) has been greatly influenced by investigation of rare families with autosomal dominant mutations that cause early onset AD. Mutations in the genes coding for Amyloid Precursor Protein (APP),
Suzanne Elizabeth Schindler +1 more
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Alexithymia, Impulsivity, and Reward Sensitivity in Young Adult University Student Children of Alcoholics [PDF]
, 2019 Background and Objectives: Personality traits previously known as risk factors for alcohol use disorder (AUD) were assessed in 29 young adult children of alcoholics (COAs) and 68 young adult children of nonalcoholics (non-COAs).
Hayatbakhsh, Niloufar +3 more
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