Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification ofTRPC5andKLHL15as potential XLID genes

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Chiara Barone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

(2013) Cíntia Barros Santos-Rebouças et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

(2012) M. Isrie et al.   European Journal of Medical Genetics

335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

(2012) Viola Alesi et al.   GENE

Selective Proteasomal Degradation of the B′β Subunit of Protein Phosphatase 2A by the E3 Ubiquitin Ligase Adaptor Kelch-like 15

(2012) Elizabeth A. Oberg et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TRPC5 Channel Is the Mediator of Neurotrophin-3 in Regulating Dendritic Growth via CaMKII  in Rat Hippocampal Neurons

(2012) Z. He et al.   JOURNAL OF NEUROSCIENCE

Calpain cleaves and activates the TRPC5 channel to participate in semaphorin 3A-induced neuronal growth cone collapse

(2012) J. S. Kaczmarek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mdp3 is a novel microtubule-binding protein that regulates microtubule assembly and stability

(2011) Xiaoou Sun et al.   CELL CYCLE

Opposite regulatory effects of TRPC1 and TRPC5 on neurite outgrowth in PC12 cells

(2011) Dae Keon Heo et al.   CELLULAR SIGNALLING

A TRPC5-regulated calcium signaling pathway controls dendrite patterning in the mammalian brain

(2011) S. V. Puram et al.   GENES & DEVELOPMENT

Microtubule-associated Protein 1S (MAP1S) Bridges Autophagic Components with Microtubules and Mitochondria to Affect Autophagosomal Biogenesis and Degradation

(2011) Rui Xie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance

(2010) M Al-Owain et al.   CLINICAL GENETICS

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

A Role of Canonical Transient Receptor Potential 5 Channel in Neuronal Differentiation from A2B5 Neural Progenitor Cells

(2010) Hye Young Shin et al.   PLoS One

Essential Role for TRPC5 in Amygdala Function and Fear-Related Behavior

(2009) Antonio Riccio et al.   CELL

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

(2009) Marlène Rio et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Partial deletion of theMAPTgene: A novel mechanism of FTDP-17

(2009) Anne Rovelet-Lecrux et al.   HUMAN MUTATION

Leucine-rich repeat kinase 2 phosphorylates brain tubulin-beta isoforms and modulates microtubule stability - a point of convergence in Parkinsonian neurodegeneration?

(2009) Frank Gillardon   JOURNAL OF NEUROCHEMISTRY

The microtubule network and neuronal morphogenesis: Dynamic and coordinated orchestration through multiple players

(2009) Fabienne E. Poulain et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

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

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

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS