Pages that link to "Q28206529"
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The following pages link to Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy (Q28206529):
Displaying 50 items.
- X-linked intellectual disability (Q8041560) (← links)
- The DNA sequence of the human X chromosome (Q21735931) (← links)
- Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome (Q24297880) (← links)
- Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation (Q24530632) (← links)
- Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism (Q24531513) (← links)
- Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation (Q24532056) (← links)
- Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation (Q24532155) (← links)
- X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family (Q24534259) (← links)
- Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency (Q24561792) (← links)
- Seizures and X-linked intellectual disability (Q24594966) (← links)
- FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation (Q24610524) (← links)
- Rett syndrome: clinical review and genetic update (Q24674633) (← links)
- A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) (Q24678062) (← links)
- Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity (Q24678468) (← links)
- A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients (Q24678726) (← links)
- Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus (Q24682652) (← links)
- Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice (Q24682949) (← links)
- XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene (Q24810185) (← links)
- Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice (Q26777746) (← links)
- Fragile X and X-linked intellectual disability: four decades of discovery (Q27027343) (← links)
- Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies (Q27308052) (← links)
- Crystal structures of engrailed homeodomain mutants: implications for stability and dynamics (Q27641843) (← links)
- Understanding Genotypes and Phenotypes in Epileptic Encephalopathies (Q28080066) (← links)
- Human ARX gene: genomic characterization and expression (Q28160539) (← links)
- (Q28162116) (redirect page) (← links)
- Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation (Q28207231) (← links)
- Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans (Q28207647) (← links)
- Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX (Q28216034) (← links)
- Genetic malformations of cortical development (Q28242257) (← links)
- Arx is required for normal enteroendocrine cell development in mice and humans (Q28506459) (← links)
- A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX (Q28508740) (← links)
- Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis (Q28571585) (← links)
- Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation (Q28591633) (← links)
- A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 (Q29147508) (← links)
- De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome (Q29147516) (← links)
- Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. (Q30418208) (← links)
- Central Alveolar Hypoventilation Syndromes (Q30481073) (← links)
- A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment (Q30484137) (← links)
- The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia (Q30577795) (← links)
- Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. (Q30578899) (← links)
- The genetics of lissencephaly (Q30826834) (← links)
- Neuronal migration disorders, genetics, and epileptogenesis (Q30990797) (← links)
- X-linked mental retardation (XLMR): from clinical conditions to cloned genes (Q33205129) (← links)
- MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions (Q33283739) (← links)
- Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX) (Q33318140) (← links)
- Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females (Q33408779) (← links)
- Genetics and biology of microcephaly and lissencephaly (Q33506556) (← links)
- Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division (Q33641779) (← links)
- Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes (Q33654193) (← links)
- Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies (Q33670246) (← links)