sameAs
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardationIdentification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaDisruptions of the novel KIAA1202 gene are associated with X-linked mental retardationMutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyDisruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityCOMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7AOligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationCloning and characterization of a new human Xq13 gene, encoding a putative helicaseFRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structureCCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signalingMutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationMutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationTM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationMutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationA systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationRefined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesMutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientMutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationRett syndrome: clinical review and genetic updateDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesNovel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndromeMutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyAbnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardationMutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusXLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneNonsense-mediated mRNA decay: inter-individual variability and human diseaseLa FAM fatale: USP9X in development and diseaseTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disabilityTHOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityDefects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesGene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tardaCharacterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation
P50
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P50
description
Australian neuroscientist
@en
aŭstralia neŭrosciencisto
@eo
neurosiensiste australian
@lfn
neurowetenschapper
@nl
name
Jozef Gecz
@fr
Jozef Gécz
@de
Jozef Gécz
@en
Jozef Gécz
@es
Jozef Gécz
@nl
Jozef Gécz
@sl
type
label
Jozef Gecz
@fr
Jozef Gécz
@de
Jozef Gécz
@en
Jozef Gécz
@es
Jozef Gécz
@nl
Jozef Gécz
@sl
altLabel
Jozef Gecz
@en
Jozef Gecz
@nl
prefLabel
Jozef Gecz
@fr
Jozef Gécz
@de
Jozef Gécz
@en
Jozef Gécz
@es
Jozef Gécz
@nl
Jozef Gécz
@sl
P166
P106
P1153
16419312800
P166
P21
P31
P496
0000-0002-7884-6861
P569
2000-01-01T00:00:00Z