Unraveling the pathogenesis ofARXpolyalanine tract variants using a clinical and molecular interfacing approach
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Title
Unraveling the pathogenesis ofARXpolyalanine tract variants using a clinical and molecular interfacing approach
Authors
Keywords
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Journal
Molecular Genetics & Genomic Medicine
Volume 3, Issue 3, Pages 203-214
Publisher
Wiley
Online
2015-02-25
DOI
10.1002/mgg3.133
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Note: Only part of the references are listed.- Development and validation of a multiplex-PCR assay for X-linked intellectual disability
- (2013) Paula Jorge et al. BMC Medical Genetics
- CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy
- (2013) Ghayda M. Mirzaa et al. PEDIATRIC NEUROLOGY
- Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation inARX
- (2012) Renske Oegema et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Novel Mutation in ARX Associated With Early Hand Preference and a Mild Phenotype
- (2012) Ghassan Abu Kuwaik et al. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
- Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene
- (2011) T Fullston et al. CLINICAL GENETICS
- 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
- (2011) Yaman Z. Ekşioğlu et al. EPILEPSIA
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- Pathogenic Role of the X-Linked Cyclin-Dependent Kinase-Like 5 and Aristaless-Related Homeobox Genes in Epileptic Encephalopathy of Unknown Etiology With Onset in the First Year of Life
- (2011) Stefano Sartori et al. JOURNAL OF CHILD NEUROLOGY
- Familial Ohtahara syndrome due to a novel ARX gene mutation
- (2010) L. Giordano et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
- (2010) Mireille Cossée et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Frameshift mutations of the ARX gene in familial Ohtahara syndrome
- (2010) Mitushiro Kato et al. EPILEPSIA
- ARX spectrum disorders: making inroads into the molecular pathology
- (2010) Cheryl Shoubridge et al. HUMAN MUTATION
- A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
- (2009) Orit Reish et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical study of two brothers with a novel 33 bp duplication in theARXgene
- (2009) Michelle K. Demos et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
- (2009) Kunio Kitamura et al. HUMAN MOLECULAR GENETICS
- Expansion of the ARX spectrum
- (2008) Robert Wallerstein et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy
- (2008) Karine Poirier et al. EPILEPSY RESEARCH
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