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by Tabassum, R and Ramo, JT and Ripatti, P and Koskela, JT and Kurki, M and Karjalainen, J and Palta, P and Hassan, S and Nunez-Fontarnau, J and Kiiskinen, TTJ and Soderlund, S and Matikainen, N and Gerl, MJ and Surma, MA and Klose, C and Stitziel, NO and Laivuori, H and Havulinna, AS and Service, SK and Salomaa, V and Pirinen, M and Jauhiainen, M and Daly, MJ and Freimer, NB and Palotie, A and Taskinen, MR and Simons, K and Ripatti, S and Jalanko, A and Kaprio, J and Donner, K and Kaunisto, M and Mars, N and Dada, A and Shcherban, A and Ganna, A and Lehisto, A and Kilpelainen, E and Brein, G and Awaisa, G and Harju, J and Parr, K and Parolo, PD and Kajanne, R and Lemmela, S and Sipila, TP and Sipila, T and Lyhs, U and Llorens, V and Niiranen, T and Kristiansson, K and Mannikko, L and Jimenez, MG and Perola, M and Wong, R and Kilpi, T and Hiekkalinna, T and Jarvensivu, E and Kaiharju, E and Mattsson, H and Laukkanen, M and Laiho, P and Lahteenmaki, S and Sistonen, T and Soini, S and Ziemann, A and Lehtonen, A and Lertratanakul, A and Georgantas, B and Riley-Gillis, B and Quarless, D and Rahimov, F and Heap, G and Jacob, H and Waring, J and Davis, JW and Smaoui, N and Popovic, R and Esmaeeli, S and Matakidou, A and Challis, B and Close, D and Petrovski, S and Karlsson, A and Schleutker, J and Pulkki, K and Virolainen, P and Kallio, L and Mannermaa, A and Heikkinen, S and Kosma, VM and Chen, CY and Runz, H and Liu, J and Bronson, P and John, S and Landenpera, S and Eaton, S and Zhou, W and Hendolin, M and ... and FinnGen Project
NATURE COMMUNICATIONS, ISSN 2041-1723, 09/2019, Volume 10, Issue 1, pp. 4329 - 14
Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here,... 
INSULIN | PREDIMED TRIAL | HOSPITAL DISCHARGE REGISTER | RISK-FACTORS | RARE VARIANTS | GENOTYPE IMPUTATION | CERAMIDES | MULTIDISCIPLINARY SCIENCES | DEATH | VALIDITY | GENOME-WIDE ASSOCIATION | Phenotypes | Architecture | Lipids | Genomes | Lipoprotein lipase | Triglycerides | Lipase | Gene expression | Metabolism | Fatty acids | Loci | Blood plasma | Genetic variance | Heritability | Lipid metabolism | Cardiovascular diseases | Species
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 1082 - 1086
Purpose: The incidence of neurofibromatosis 1 (NF1) is similar to 1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective... 
MORTALITY | epidemiology | prevalence | DIAGNOSIS | survival | GENETICS & HEREDITY | neurofibromatosis type 1 | NF1 | cancer predisposition | Prevalence | Neurofibromatosis 1 - epidemiology | Humans | Middle Aged | Child, Preschool | Infant | Male | Neurofibromatosis 1 - diagnosis | Survival Rate | Incidence | Adolescent | Adult | Female | Registries | Aged | Retrospective Studies | Child | Finland - epidemiology | Infant, Newborn | Population
Journal Article
International Journal of Cancer, ISSN 0020-7136, 12/2019, Volume 145, Issue 11, pp. 2926 - 2932
Journal Article
Childhood, ISSN 0907-5682, 2/2017, Volume 24, Issue 1, pp. 68 - 83
This self-reflective article explores the possibilities of producing children’s ‘voice’ in the domestic research context. We look at producing voices as the... 
voice | qualitative methodology | media | Childhood | home
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2018, Volume 13, Issue 1, pp. 5 - 8
Background: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to... 
Heart | Birth defect | Congenital malformation | Rasopathy | Polydactyly | Anomaly | Neurofibromatosis type 1 | Face | Epidemiology | Kidney | MORTALITY | MEDICINE, RESEARCH & EXPERIMENTAL | MANAGEMENT | QUALITY | ABNORMALITIES | ADULTS | PREVALENCE | CHILDREN | MALFORMATIONS | GENETICS & HEREDITY | TYPE-1 | Usage | Gene mutations | Neurofibromatosis | Medical records | Genetic aspects | Diagnosis | Research
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2019, Volume 179, Issue 7, pp. 1173 - 1183
Neurofibromatosis type 1 (NF1) is associated with reduced adult height, but there are no cohort studies on birth size. This retrospective study includes a... 
epidemiology | neurofibromatosis | anthropometrics | newborn | Rasopathy | QUALITY | PREVALENCE | PREGNANCY | OVERGROWTH | GESTATION | GROWTH | GENETICS & HEREDITY | NF1 | OUTCOMES | HEAD CIRCUMFERENCE | Infants | Epidemiology | Neurofibromatosis | Analysis | Body height | Prenatal development | Standard deviation | Birth weight | Health risk assessment | Recklinghausen's disease | Original
Journal Article
Clinical Gastroenterology and Hepatology, ISSN 1542-3565, 2016, Volume 14, Issue 3, pp. 403 - 409.e3
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 06/2016, Volume 34, Issue 17, pp. 1978 - 1986
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 12830 - 12
Journal Article
Gene, ISSN 0378-1119, 08/2017, Volume 624, pp. 34 - 42
The Val158Met polymorphism in catechol- -methyltransferase (COMT) enzyme reduces the methylation of catechol estrogens, which may affect mammographic density.... 
Catechol-O-methyltransferase | Mammographic density | Hormone replacement therapy | Methylation | Menopause | POSTMENOPAUSAL HORMONE-THERAPY | COMT | GENE VARIANTS | METABOLISM | REDUCTION | BREAST-CANCER RISK