Cargando…
Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation
BACKGROUND: Deletions of the imprinting centre 1 (IC1) in 11p15.5 are rare and their clinical significance is not only influenced by their parental origin but also by their exact genomic localization. In case the maternal IC1 allele is affected, the deletion is associated with the overgrowth disorde...
Autores principales: | Kraft, Florian, Wesseler, Katharina, Begemann, Matthias, Kurth, Ingo, Elbracht, Miriam, Eggermann, Thomas |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377752/ https://www.ncbi.nlm.nih.gov/pubmed/30770769 http://dx.doi.org/10.1186/s13148-019-0629-x |
Ejemplares similares
-
Molecular and Clinical Opposite Findings in 11p15.5 Associated Imprinting Disorders: Characterization of Basic Mechanisms to Improve Clinical Management
por: Wesseler, Katharina, et al.
Publicado: (2019) -
Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients
por: Eggermann, Thomas, et al.
Publicado: (2018) -
Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains
por: Eggermann, Thomas, et al.
Publicado: (2021) -
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
por: Begemann, Matthias, et al.
Publicado: (2012) -
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
por: Bilo, Larissa, et al.
Publicado: (2023)