Search Results - "SAVUKOSKI, M"

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    Excess of severe autoimmune diseases in women with premature ovarian insufficiency: a population-based study by Savukoski, S M, Silvén, H, Pesonen, P, Pukkala, E, Gissler, M, Suvanto, E, Ollila, M-M, Niinimäki, M

    Published in Human reproduction (Oxford) (25-09-2024)
    “…Is there an association between premature ovarian insufficiency (POI) and severe autoimmune diseases before and after POI diagnosis? Women with POI had at…”
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    Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study by Silvén, H, Savukoski, S M, Pesonen, P, Pukkala, E, Ojaniemi, M, Gissler, M, Suvanto, E, Niinimäki, M

    Published in Human reproduction (Oxford) (01-06-2023)
    “…Abstract STUDY QUESTION Are genetic disorders and congenital malformations associated with premature ovarian insufficiency (POI)? SUMMARY ANSWER A wide range…”
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    Incidence and familial risk of premature ovarian insufficiency in the Finnish female population by Silvén, H, Savukoski, S M, Pesonen, P, Pukkala, E, Gissler, M, Suvanto, E, Niinimäki, M

    Published in Human reproduction (Oxford) (03-05-2022)
    “…What is the incidence of premature ovarian insufficiency (POI), has the incidence of POI changed over time, and what is the risk of POI among relatives of POI…”
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    Previous cancers in women diagnosed with premature ovarian insufficiency: A nationwide population‐based case–control study by Silvén, Heidi, Savukoski, Susanna M., Pesonen, Paula, Niinimäki, Riitta, Pukkala, Eero, Gissler, Mika, Suvanto, Eila, Niinimäki, Maarit

    “…Introduction To investigate the occurrence of previous cancer diagnoses in women suffering from premature ovarian insufficiency (POI) and compare it with the…”
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    Sleep disturbances in women with early-onset menopausal transition: a population-based study by Salin, Satu A E, Savukoski, Susanna M, Pesonen, Paula R O, Auvinen, Juha P, Niinimäki, Maarit J

    Published in Menopause (New York, N.Y.) (01-11-2023)
    “…The aim of this study was to investigate sleep disturbances in 46-yr-old women and their association with early-onset menopausal transition. The women of this…”
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    Climacteric status is associated with sexual dysfunction at the age of 46 years: a population-based study by Savukoski, Susanna M., Pinola, Pekka A., Pesonen, Paula R. O., Puukka, Katri S., Suvanto, Eila T. J., Niinimäki, Maarit J.

    Published in Menopause (New York, N.Y.) (01-11-2022)
    “…Abstract Objective Increasing age and menopausal transition increase the risk of sexual dysfunction. Sexual dysfunction is common in women experiencing…”
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    Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23 by Sharp, J. D., Wheeler, R. B., Lake, B. D., Savukoski, M., Järvelä, I. E., Peltonen, L., Gardiner, R. M., Williams, R. E.

    Published in Human molecular genetics (01-04-1997)
    “…The childhood neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative disorders characterised by progressive visual failure,…”
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    Phenotype- genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5) by HOLMBERG, V, LAURONEN, L, AUTTI, T, SANTAVUORI, P, SAVUKOSKI, M, UVEBRANT, P, HOFMAN, I, PELTONEN, L, JÄRVELÄ, I

    Published in Neurology (22-08-2000)
    “…The authors analyzed the clinical phenotype, including MRI, of eight patients with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCLFin;…”
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    Onset of the climacteric phase by the mid-forties associated with impaired insulin sensitivity: a birth cohort study by Savukoski, Susanna M., Suvanto, Eila T. J., Auvinen, Juha P., Pesonen, Paula R. O., Keinänen-Kiukaanniemi, Sirkka M., Puukka, Katri S., Ebeling, Tapani, Niinimäki, Maarit J.

    Published in Menopause (New York, N.Y.) (21-09-2020)
    “…OBJECTIVE:To investigate whether the early-onset menopausal transition is associated with deteriorated glucose tolerance in women in their mid-forties…”
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    Is climacterium by the mid-40s associated with thyroid dysfunction or autoimmunity? A population-based study by Savukoski, Susanna M., Niinimäki, Maarit J., Pesonen, Paula R.O., Auvinen, Juha P., Männistö, Tuija, Puukka, Katri S., Ebeling, Tapani, Suvanto, Eila T.J.

    Published in Menopause (New York, N.Y.) (17-05-2021)
    “…We investigated whether more advanced climacteric stage in the mid-40s is associated with thyroid autoimmunity and dysfunction. This cross-sectional cohort…”
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    The age of human mutation : Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the finnish population by VARILO, T, SAVUKOSKI, M, NORIO, R, SANTAVUORI, P, PELTONEN, L, JÄRVELÄ, I

    Published in American journal of human genetics (01-03-1996)
    “…Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part…”
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    Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses by SAVUKOSKI, M, KESTILÄ, M, WILLIAMS, R, JÄRVELÄ, I, SHARP, J, HARRIS, J, SANTAVUORI, P, GARDINER, M, PELTONEN, L

    Published in American journal of human genetics (01-10-1994)
    “…We demonstrate here that at least four genetically separate loci are involved in the pathogenesis of human neuronal ceroid lipofuscinoses (NCLs), fatal brain…”
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    Efficient Construction of a Physical Map by Fiber-Fish of the CLN5 Region: Refined Assignment and Long-Range Contig Covering the Critical Region on 13q22 by Klockars, T., Savukoski, M., Isosomppi, J., Laan, M., Järvelä, I., Petrukhin, K., Palotie, A., Peltonen, L.

    Published in Genomics (San Diego, Calif.) (01-07-1996)
    “…The variant form of late infantile neuronal ceroid lipofuscinosis (vLINCL, locus definition CLN5) represents a progressive brain disease with autosomal…”
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    Transcript identification on the CLN5 region on chromosome 13q22 by KLOCKARS, T, HOLMBERG, V, SAVUKOSKI, M, LANDER, E. S, PELTONEN, L

    Published in Human genetics (01-07-1999)
    “…Our efforts to clone the CLN5 gene, mutated in a severe children's brain disease, variant late infantile neuronal ceroid lipofuscinosis (vLINCL, MIM256731),…”
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    CLN5 , a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis by Peltonen, Leena, Savukoski, Minna, Klockars, Tuomas, Holmberg, Ville, Santavuori, Pirkko, Lander, Eric S

    Published in Nature genetics (01-07-1998)
    “…The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited neurodegenerative disorders of childhood, with an incidence of…”
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