Associated Papers
Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay.
Yang F et al.
Bmc Medical Genomics, 2024
38956616 (PubMed )
Supplement: 12920_2024_1952_MOESM1_ESM.xlsx › Sheet1
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS et al.
European Journal of Medical Genetics, 2019
Emerging major synaptic signaling pathways involved in intellectual disability.
Pavlowsky A et al.
Molecular Psychiatry, 2012
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
Al-Owain M et al.
Clinical Genetics, 2011
Deletion of the OPHN1 gene detected by aCGH.
Madrigal I et al.
Journal of Intellectual Disability Research : Jidr, 2008
Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.
Chabrol B et al.
American Journal of Medical Genetics. Part A, 2005
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Kleefstra T et al.
Clinical Genetics, 2005
Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Philip N et al.
Journal of Medical Genetics, 2003
Select a paper to view details