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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationCharacterization of FBX25, encoding a novel brain-expressed F-box proteinMutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyWDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeThe MAS proto-oncogene is not imprinted in humansMutations 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 the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationMutations 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 retardationBreakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansA new standard nomenclature for proteins related to Apx and ShroomTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyGenomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1THOC2 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 genesgamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genomeThe epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedMutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationDuplication of the MID1 first exon in a patient with Opitz G/BBB syndromeARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationMonoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetusesRegulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicingEvidence against a major role of PEG1/MEST in Silver-Russell syndromeDisruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndromeGermline KRAS mutations cause Noonan syndromeMutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingNovel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilyA balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.Modeling read counts for CNV detection in exome sequencing data.Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females.Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmissionX-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS.Nonsyndromic X-linked mental retardation: where are the missing mutations?
P50
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P50
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Vera Kalscheuer
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Vera Kalscheuer
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Vera Kalscheuer
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Vera Kalscheuer
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Vera Kalscheuer
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Vera Kalscheuer
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P106
P21
P31
P496
0000-0001-6898-3259