Associated Papers
The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1).
Montani C et al.
Developmental Neurobiology, 2019
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.
Laino L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Emerging major synaptic signaling pathways involved in intellectual disability.
Pavlowsky A et al.
Molecular Psychiatry, 2012
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Hu H et al.
The Hugo Journal, 2009
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
Piton A et al.
Human Molecular Genetics, 2008
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family.
Nawara M et al.
American Journal of Medical Genetics. Part A, 2008
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
de Brouwer AP et al.
Human Mutation, 2007
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.
Tabolacci E et al.
American Journal of Medical Genetics. Part A, 2006
[Monogenic causes of nonspecific X-linked mental retardation molecular aspects].
Nawara M et al.
Medycyna Wieku Rozwojowego, 0
[Gene mapping in 14 families with X-linked nonspecific mental retardation].
Nawara M et al.
Medycyna Wieku Rozwojowego, 0
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