Search Results - "Uusitalo, Elina"
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Increased risk for dementia in neurofibromatosis type 1
Published in Genetics in medicine (01-11-2021)“…Purpose To determine the risk for dementia in neurofibromatosis type 1 (NF1) using a Finnish nationwide cohort of individuals with NF1, and data from national…”
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Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study
Published in Orphanet journal of rare diseases (15-01-2018)“…Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital…”
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Incidence and Mortality of Neurofibromatosis: A Total Population Study in Finland
Published in Journal of investigative dermatology (01-03-2015)Get full text
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Prevalence of neurofibromatosis type 1 in the Finnish population
Published in Genetics in medicine (01-09-2018)“…Purpose The incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective…”
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Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1
Published in Journal of clinical oncology (10-06-2016)“…The current study was designed to determine the risk of cancer in patients with neurofibromatosis type 1 (NF1) by cancer type, age, and sex with unprecedented…”
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Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study
Published in International journal of cancer (01-12-2019)“…Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2,000. Patients with NF1 have an increased cancer risk and mortality,…”
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Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors
Published in British journal of cancer (17-01-2017)“…Background: An increased breast cancer incidence and poor survival have been reported for women with neurofibromatosis 1 (NF1). To explain the poor survival,…”
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Association of Catechol-O-methyltransferase polymorphism Val158Met and mammographic density: A meta-analysis
Published in Gene (15-08-2017)“…The Val158Met polymorphism in catechol-O-methyltransferase (COMT) enzyme reduces the methylation of catechol estrogens, which may affect mammographic density…”
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The pregnancy in neurofibromatosis 1: A retrospective register‐based total population study
Published in American journal of medical genetics. Part A (01-10-2017)“…The objective of this retrospective total population study was to form a view of the pregnancies of the patients with neurofibromatosis type 1 (NF1). A cohort…”
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Neurofibromatosis type 1 of the child increases birth weight
Published in American journal of medical genetics. Part A (01-07-2019)“…Neurofibromatosis type 1 (NF1) is associated with reduced adult height, but there are no cohort studies on birth size. This retrospective study includes a…”
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Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing
Published in Acta dermato-venereologica (01-01-2014)“…Neurofibromatosis type 1 syndrome (NF1) is caused by mutations in the NF1 gene. Availability of new sequencing technology prompted us to search for an…”
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