Cargando…
Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies
BACKGROUND: Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa. METHODS: Array comparat...
Autores principales: | Uwineza, Annette, Caberg, Jean-Hubert, Hitayezu, Janvier, Hellin, Anne Cecile, Jamar, Mauricette, Dideberg, Vinciane, Rusingiza, Emmanuel K, Bours, Vincent, Mutesa, Leon |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4123504/ https://www.ncbi.nlm.nih.gov/pubmed/25016475 http://dx.doi.org/10.1186/1471-2350-15-79 |
Ejemplares similares
-
Pattern of congenital heart diseases in Rwandan children with genetic defects
por: Teteli, Raissa, et al.
Publicado: (2014) -
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
por: Mutesa, Leon, et al.
Publicado: (2012) -
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy
por: Beckers, Pablo, et al.
Publicado: (2021) -
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies
por: Iourov, Ivan Y, et al.
Publicado: (2012) -
Screening of germline mutations in young Rwandan patients with breast cancers
por: Uyisenga, Jeanne P., et al.
Publicado: (2020)