Search Results - "SAVUKOSKI, M"
-
1
Excess of severe autoimmune diseases in women with premature ovarian insufficiency: a population-based study
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…”
Get full text
Journal Article -
2
Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study
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…”
Get full text
Journal Article -
3
Incidence and familial risk of premature ovarian insufficiency in the Finnish female population
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…”
Get full text
Journal Article -
4
Previous cancers in women diagnosed with premature ovarian insufficiency: A nationwide population‐based case–control study
Published in Acta obstetricia et gynecologica Scandinavica (01-05-2024)“…Introduction To investigate the occurrence of previous cancer diagnoses in women suffering from premature ovarian insufficiency (POI) and compare it with the…”
Get full text
Journal Article -
5
Choice of treatment to manage early miscarriage does not affect future fertility
Published in Fertility and sterility (01-01-2021)Get full text
Journal Article -
6
Climacteric status at age 46 is associated with poorer work ability, lower 2-year participation in working life, and a higher 7-year disability retirement rate: a Northern Finland Birth Cohort 1966 study
Published in Menopause (New York, N.Y.) (01-04-2024)“…To study the association between an advanced climacteric status at 46 years of age and current perceived work ability, the consequent 2-year accumulation of…”
Get full text
Journal Article -
7
Sleep disturbances in women with early-onset menopausal transition: a population-based study
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…”
Get full text
Journal Article -
8
Climacteric status is associated with sexual dysfunction at the age of 46 years: a population-based study
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…”
Get full text
Journal Article -
9
Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23
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,…”
Get full text
Journal Article -
10
Phenotype- genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
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;…”
Get full text
Journal Article -
11
Onset of the climacteric phase by the mid-forties associated with impaired insulin sensitivity: a birth cohort study
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…”
Get full text
Journal Article -
12
Is climacterium by the mid-40s associated with thyroid dysfunction or autoimmunity? A population-based study
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…”
Get full text
Journal Article -
13
Early-onset climacterium is not associated with impaired vitamin D status: a population-based study
Published in Menopause (New York, N.Y.) (03-05-2021)“…To investigate vitamin D status in women with the onset of the climacteric phase by age 46 as both early menopause and inadequate vitamin D status may increase…”
Get full text
Journal Article -
14
The age of human mutation : Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the finnish population
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…”
Get full text
Journal Article -
15
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
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…”
Get full text
Journal Article -
16
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
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…”
Get full text
Journal Article -
17
Transcript identification on the CLN5 region on chromosome 13q22
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),…”
Get full text
Journal Article -
18
-
19
CLN5 , a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
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…”
Get full text
Journal Article -
20
Climacteric status is associated with sexual dysfunction at the age of 46 years: a population-based study
Published in Menopause (New York, N.Y.) (06-09-2022)Get full text
Journal Article