Search Results - "Uusitalo, Elina"

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  1. 1

    Increased risk for dementia in neurofibromatosis type 1 by Kallionpää, Roope A., Valtanen, Mikko, Auranen, Kari, Uusitalo, Elina, Rinne, Juha O., Peltonen, Sirkku, Peltonen, Juha

    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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    Journal Article
  2. 2

    Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population study by Leppävirta, Jussi, Kallionpää, Roope A, Uusitalo, Elina, Vahlberg, Tero, Pöyhönen, Minna, Peltonen, Juha, Peltonen, Sirkku

    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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    Journal Article
  3. 3
  4. 4

    Prevalence of neurofibromatosis type 1 in the Finnish population by Kallionpää, Roope A, Uusitalo, Elina, Leppävirta, Jussi, Pöyhönen, Minna, Peltonen, Sirkku, Peltonen, Juha

    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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    Journal Article
  5. 5

    Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1 by Uusitalo, Elina, Rantanen, Matti, Kallionpää, Roope A, Pöyhönen, Minna, Leppävirta, Jussi, Ylä-Outinen, Heli, Riccardi, Vincent M, Pukkala, Eero, Pitkäniemi, Janne, Peltonen, Sirkku, Peltonen, Juha

    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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    Journal Article
  6. 6

    Pediatric malignancies in neurofibromatosis type 1: A population‐based cohort study by Peltonen, Sirkku, Kallionpää, Roope A., Rantanen, Matti, Uusitalo, Elina, Lähteenmäki, Päivi M., Pöyhönen, Minna, Pitkäniemi, Janne, Peltonen, Juha

    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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    Journal Article
  7. 7

    Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factors by Uusitalo, Elina, Kallionpää, Roope A, Kurki, Samu, Rantanen, Matti, Pitkäniemi, Janne, Kronqvist, Pauliina, Härkönen, Pirkko, Huovinen, Riikka, Carpen, Olli, Pöyhönen, Minna, Peltonen, Sirkku, Peltonen, Juha

    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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    Journal Article
  8. 8

    Association of Catechol-O-methyltransferase polymorphism Val158Met and mammographic density: A meta-analysis by Kallionpää, Roope A., Uusitalo, Elina, Peltonen, Juha

    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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    Journal Article
  9. 9

    The pregnancy in neurofibromatosis 1: A retrospective register‐based total population study by Leppävirta, Jussi, Kallionpää, Roope A., Uusitalo, Elina, Vahlberg, Tero, Pöyhönen, Minna, Timonen, Susanna, Peltonen, Juha, Peltonen, Sirkku

    “…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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  10. 10

    Neurofibromatosis type 1 of the child increases birth weight by Leppävirta, Jussi, Kallionpää, Roope A., Uusitalo, Elina, Vahlberg, Tero, Pöyhönen, Minna, Peltonen, Juha, Peltonen, Sirkku

    “…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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    Journal Article
  11. 11

    Neurofibromatosis type 1 gene mutation analysis using sequence capture and high-throughput sequencing by Uusitalo, Elina, Hammais, Anna, Palonen, Elina, Brandt, Annika, Mäkelä, Ville-Veikko, Kallionpää, Roope, Jouhilahti, Eeva-Mari, Pöyhönen, Minna, Soini, Juhani, Peltonen, Juha, Peltonen, Sirkku

    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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    Journal Article