المؤلفون: Loid, Petra, Lipsanen-Nyman, Marita, Ala-Mello, Sirpa, Hannula-Jouppi, Katariina, Kere, Juha, Mäkitie, Outi, Muurinen, Mari

المساهمون: Clinicum, HUS Children and Adolescents, Children's Hospital, Medicum, University of Helsinki, CAMM - Research Program for Clinical and Molecular Metabolism, Lastentautien yksikkö, HUSLAB, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, Department of Dermatology, Allergology and Venereology, HUS Inflammation Center, Research Programs Unit, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator

مصطلحات موضوعية: IGF2, short stature, Silver-Russell, intrauterine growth restriction, exome sequencing, IGF2 MUTATION, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: Loid , P , Lipsanen-Nyman , M , Ala-Mello , S , Hannula-Jouppi , K , Kere , J , Mäkitie , O & Muurinen , M 2022 , ' Case report : A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome ' , Frontiers in pediatrics , vol. 10 , 969881 . https://doi.org/10.3389/fped.2022.969881; ORCID: /0000-0003-4959-2310/work/122639321; ORCID: /0000-0002-4547-001X/work/155651704; http://hdl.handle.net/10138/350641; 982ca360-ed84-40d1-9250-25664f03e150; 000871303500001

الاتاحة: http://hdl.handle.net/10138/350641

المؤلفون: Büttel Hm, Matthias Begemann, Gijs W. E. Santen, Gerhard Binder, Zirn B, Schweizer R, Lukas Soellner, Thomas Eggermann, van Workum W, Elisa Wirthgen

المصدر: New England Journal of Medicine, 373(4), 349-356

مصطلحات موضوعية: Male, media_common.quotation_subject, medicine.medical_treatment, Nonsense, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, IGF2 Mutation, Growth Restriction, Fathers, 03 medical and health sciences, 0302 clinical medicine, Growth restriction, Insulin-Like Growth Factor II, medicine, Humans, media_common.cataloged_instance, European union, Growth Disorders, 030304 developmental biology, Insulin-like growth factor 1 receptor, media_common, Genetics, 0303 health sciences, Mutation, Fetal Growth Retardation, Growth factor, Infant, Newborn, General Medicine, Phenotype, Pedigree, 3. Good health, Silver-Russell Syndrome, Codon, Nonsense, Female, Genomic imprinting

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8122e4373bf5f6d2fcdacaf4c39a4147
https://doi.org/10.1056/nejmoa1415227

المؤلفون: Poulton, C., Azmanov, D., Atkinson, V., Beilby, J., Ewans, L., Gration, D., Dreyer, L., Shetty, V., Peake, C., McCormack, E., Palmer, Richard, Lewis, B., Dawkins, H., Broley, S., Baynam, G.

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Aboriginal, IGF2, macrocephaly, Silver-Russel syndrome, IGF2 MUTATION

وصف الملف: restricted

Relation: http://hdl.handle.net/20.500.11937/83805

الاتاحة: https://hdl.handle.net/20.500.11937/83805
https://doi.org/10.1002/ajmg.a.40502