Cargando…
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
BACKGROUND: (Epi)genetic disorders associated with small-for-gestational-age with short stature (SGA-SS) include imprinting disorders (IDs). Silver-Russell syndrome (SRS) is a representative ID in SGA-SS and has heterogenous (epi)genetic causes. SUBJECTS AND METHODS: To clarify the contribution of I...
Autores principales: | Fuke, Tomoko, Nakamura, Akie, Inoue, Takanobu, Kawashima, Sayaka, Hara, Kaori Isono, Matsubara, Keiko, Sano, Shinichiro, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947753/ https://www.ncbi.nlm.nih.gov/pubmed/33236057 http://dx.doi.org/10.1210/clinem/dgaa856 |
Ejemplares similares
-
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
por: Hara-Isono, Kaori, et al.
Publicado: (2023) -
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects
por: Inoue, Takanobu, et al.
Publicado: (2017) -
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver–Russell Syndrome-compatible phenotype
por: Kagami, Masayo, et al.
Publicado: (2015) -
Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
por: Hara-Isono, Kaori, et al.
Publicado: (2020) -
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
por: Inoue, Takanobu, et al.
Publicado: (2019)