TY  - GEN
AU  - Putkonen, Noora
AU  - Laiho, Asta
AU  - Ethell, Doug
AU  - Pursiheimo, Juha
AU  - Anttonen, Anna-Kaisa
AU  - Pitkonen, Juho
AU  - Gentile, Adriana M.
AU  - de Diego-Otero, Yolanda
AU  - Castrén, Maija L.
PY  - 2020
DO  - 10.3390/cells9020289
UR  - http://hdl.handle.net/20.500.12105/17993
AB  - A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inherited intellectual disability and autism. Phenotypic variation requires personalized treatment...
LA  - eng
PB  - Multidisciplinary Digital Publishing Institute (MDPI)
KW  - Disease biomarker
KW  - Urine miRNA
KW  - Fragile X syndrome
KW  - Autism
KW  - MiR-125a
KW  - MicroRNA
KW  - Child
KW  - Urine
KW  - Intellectual disability
KW  - Síndrome del cromosoma X frágil
KW  - MicroARNs
KW  - Niño
KW  - Orina
KW  - Discapacidad intelectual
KW  - Adolescent
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Fragile X Syndrome
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Male
KW  - MicroRNAs
KW  - Mutation
KW  - Receptors, Metabotropic Glutamate
KW  - Signal Transduction
TI  - Urine microRNA Profiling Displays miR-125a Dysregulation in Children with Fragile X Syndrome
TY  - research article
ER  -