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Abbreviation : XLAG
Long Form : X-linked lissencephaly with abnormal genitalia
No. Year Title Co-occurring Abbreviation
2022 Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy. ARX, AS, DEE1
2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. ACC, ARX, ID
2016 Combinatory use of central venous catheter and ethanol lock for a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome. ---
2015 Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. ARX
2015 The Role of ARX in Human Pancreatic Endocrine Specification. ARX, hESCs, rarely detected
2013 Primary hypogonadism in a case with XLAG syndrome. ---
2012 Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX. ACC, PMG, PVNH
2012 Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. ARX, NS-XLID, PRTS, SSCP
10  2011 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. ---
11  2010 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. ARX, IPO13, NLS
12  2010 Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression. FCMD, MDS
13  2010 Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. ARX
14  2009 Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). ARX, WS
15  2008 Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). ---
16  2008 Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). ARX, CR, GAD
17  2008 Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. ---
18  2007 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. MGE
19  2007 Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome. ARX
20  2006 Central and gonadal hypogonadism in X-linked lissencephaly. ---
21  2005 Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. XLMR
22  2004 Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. ACC, ARX
23  2004 Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. ACC
24  2004 X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. ARX
25  2003 ARX mutations in X-linked lissencephaly with abnormal genitalia. ---
26  2002 Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. ARX