| scholarly article | Q13442814 |
| P50 | author | Cherif Beldjord | Q28468817 |
| Karine Poirier | Q30322450 | ||
| Marie Gomot | Q48328725 | ||
| Jamel Chelly | Q18169920 | ||
| Hans van Bokhoven | Q28324459 | ||
| Jean-Pierre Fryns | Q28468805 | ||
| Vera M. Kalscheuer | Q28468812 | ||
| Claude Moraine | Q28468815 | ||
| Fiona Francis | Q28468816 | ||
| P2093 | author name string | Delphine Beaumont | |
| Fabien Fauchereau | |||
| Gaelle Friocourt | |||
| Habiba Chaabouni | |||
| Josef Gecz | |||
| Kanae Ohzaki | |||
| Lamia Ben Jeema | |||
| Marie-Claude Vinet | |||
| Nadia Bahi | |||
| Philippe Couvert | |||
| Ramzi Zemni | |||
| Suzanne Frints | |||
| Thierry Bienvenu | |||
| Vincent Desportes | |||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 981-91 | |
| P577 | publication date | 2002-04-15 | |
| P1433 | published in | Human Molecular Genetics | Q2720965 |
| P1476 | title | ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation | |
| P478 | volume | 11 |
| Q37636715 | A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. |
| Q35936956 | A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients |
| Q29147508 | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 |
| Q36270258 | A compendium of developmental gene expression in Lake Malawi cichlid fishes |
| Q24678062 | A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) |
| Q57733973 | A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations |
| Q24650497 | A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate |
| Q48887866 | A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females |
| Q36886749 | A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. |
| Q36322602 | A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death |
| Q28508740 | A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX |
| Q24678726 | 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 |
| Q30484137 | 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 |
| Q57387330 | ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia |
| Q37761093 | ARX spectrum disorders: making inroads into the molecular pathology |
| Q34699414 | Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. |
| Q51953580 | Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. |
| Q34563979 | ApoO, a novel apolipoprotein, is an original glycoprotein up-regulated by diabetes in human heart |
| Q42457411 | Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity |
| Q89600951 | Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-Linked Infantile Spasms Syndrome |
| Q37352456 | Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons |
| Q28506459 | Arx is required for normal enteroendocrine cell development in mice and humans |
| Q37306566 | Arx polyalanine expansion in mice leads to reduced pancreatic α-cell specification and increased α-cell death |
| Q56232658 | Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX |
| Q55435881 | Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping? |
| Q36523314 | Brain malformations associated with cell migration |
| Q35447640 | CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms |
| Q28742056 | Caenorhabditis elegans aristaless/Arx gene alr-1 restricts variable gene expression |
| Q28571585 | Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis |
| Q34506868 | Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders |
| Q57529907 | Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms |
| Q40576904 | Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene |
| Q56770927 | Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX |
| Q92807361 | Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita |
| Q34192123 | Developing an animal model for infantile spasms: pathogenesis, problems and progress |
| Q35750224 | Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression |
| Q24676259 | Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males |
| Q24532056 | Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation |
| Q41120875 | Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations |
| Q35019818 | Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations |
| Q48449598 | Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene |
| Q27027343 | Fragile X and X-linked intellectual disability: four decades of discovery |
| Q47589559 | Functional stability of the aristaless gene in appendage tip formation during evolution. |
| Q34004641 | Functionally significant, rare transcription factor variants in tetralogy of Fallot |
| Q38164570 | Genetics, molecular biology, and phenotypes of x-linked epilepsy |
| Q34479643 | Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias. |
| Q28506691 | High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies |
| Q28160539 | Human ARX gene: genomic characterization and expression |
| Q58493057 | Identification of Arx targets unveils new candidates for controlling cortical interneuron migration and differentiation |
| Q36967946 | Identification of Arx transcriptional targets in the developing basal forebrain |
| Q47142342 | Identification of epigenetically altered genes and potential gene targets in melanoma using bioinformatic methods |
| Q79276040 | Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b |
| Q28591633 | 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 |
| Q28216034 | Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX |
| Q38008151 | Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. |
| Q47351608 | Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions. |
| Q35296262 | Is mental retardation a defect of synapse structure and function? |
| Q36403915 | Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? |
| Q36772709 | Karyopherins in nuclear transport of homeodomain proteins during development |
| Q51955313 | Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. |
| Q51946976 | Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. |
| Q33283739 | MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions |
| Q56232683 | Malformations of cortical development |
| Q31162335 | Malformations of cortical development: genetic mechanisms and diagnostic approach |
| Q51927335 | Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. |
| Q50773650 | Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders. |
| Q50883933 | Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. |
| Q40134823 | Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene |
| Q43804873 | Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. |
| Q34349426 | Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons |
| Q28207647 | Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans |
| Q36783161 | Mutation screening of the ARX gene in patients with autism |
| Q51914749 | Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology. |
| Q33738402 | Mutations in ARX Result in Several Defects Involving GABAergic Neurons |
| Q24530632 | Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation |
| Q24532155 | Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation |
| Q41921583 | Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation |
| Q33910551 | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. |
| Q30578899 | Neonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome. |
| Q34205119 | Nonsyndromic X-linked mental retardation: where are the missing mutations? |
| Q36241459 | Nonsyndromic microcephaly: an overview |
| Q91643968 | Novel ARX mutation identified in infantile spasm syndrome patient |
| Q41934017 | Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly |
| Q34328518 | Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). |
| Q24531513 | Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism |
| Q80957829 | PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression |
| Q48456638 | Pathways of neuronal migration |
| Q52551093 | Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. |
| Q48955295 | Recombineered Xenopus tropicalis BAC expresses a GFP reporter under the control of Arx transcriptional regulatory elements in transgenic Xenopus laevis embryos |
| Q34079415 | Regulation of histone H3K4 methylation in brain development and disease |
| Q37058511 | Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. |
| Q53577198 | Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. |
| Q34566623 | Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly |
| Q50311390 | Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene |
| Q50123029 | Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis |
| Q47336770 | Screening of the ARX gene in 682 retarded males. |
| Q39616112 | Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome |
| Q30487790 | Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females |
| Q64108663 | The C-terminus of the gene product modulates transcription in a context-dependent manner |
| Q34049748 | The Caenorhabditis elegans aristaless orthologue, alr-1, is required for maintaining the functional and structural integrity of the amphid sensory organs |
| Q30577795 | The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia |
| Q34283901 | The genetic basis of non-syndromic intellectual disability: a review |
| Q57041043 | The genetic landscape of infantile spasms |
| Q30826834 | The genetics of lissencephaly |
| Q35545815 | The neurobiological context of autism. |
| Q43232391 | The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene |
| Q37339087 | The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein |
| Q45245303 | The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain |
| Q24561792 | Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency |
| Q50446932 | Two new familial severe infantile spasm syndromes in males |
| Q37741362 | Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching |
| Q38437571 | Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes |
| Q35648072 | Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach |
| Q44830611 | Update on the genetics of X-linked mental retardation |
| Q55416149 | Utilizing Animal Models of Infantile Spasms. |
| Q28207231 | Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation |
| Q33615938 | Westward ho! Pioneering mouse models for x-linked infantile spasms syndrome |
| Q64102416 | Why Malformations of Cortical Development Cause Epilepsy |
| Q36239035 | X linked mental retardation: a clinical guide |
| Q21202871 | X-linked disorders with cerebellar dysgenesis |
| Q34088379 | X-linked intellectual disability: unique vulnerability of the male genome |
| Q42478885 | X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". |
| Q56270643 | X-linked mental retardation |
| Q33205129 | X-linked mental retardation (XLMR): from clinical conditions to cloned genes |
| Q24534259 | X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family |
| Q35104772 | X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. |
| Q35026980 | X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms |
| Q24810185 | XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene |
| Q45198339 | Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development |
| Q48829325 | xArx2: an aristaless homolog that regulates brain regionalization during development in Xenopus laevis |
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