Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism

(2011) Karl J. Franek et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

(2011) Fady M. Mikhail et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features

(2011) Erin L. Youngs et al.   European Journal of Medical Genetics

The X-linked intellectual disability protein IL1RAPL1 regulates excitatory synapse formation by binding PTPδ and RhoGAP2

(2011) Pamela Valnegri et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

(2011) MARIA PICCIONE et al.   JOURNAL OF GENETICS

IL-1 Receptor Accessory Protein-Like 1 Associated with Mental Retardation and Autism Mediates Synapse Formation by Trans-Synaptic Interaction with Protein Tyrosine Phosphatase  

(2011) T. Yoshida et al.   JOURNAL OF NEUROSCIENCE

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

(2010) Anne Behnecke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

IL1RAPL1 controls inhibitory networks during cerebellar development in mice

(2009) Frédéric Gambino et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Novel mutation ofIL1RAPL1gene in a nonspecific X-linked mental retardation (MRX) family

(2008) Magdalena Nawara et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

(2008) A. Piton et al.   HUMAN MOLECULAR GENETICS