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Xq11.1

A chromosome band present on Xq
National Institutes of Health

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2 relations
ChromosomesFAM123B wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.
Proper function of GABAergic synapses depends upon the postsynaptic compartment anchoring of neurotransmitter receptors to the… 
Review
2017
Review
2017
ARHGEF9 disease
Objective: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. Methods… 
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Highly Cited
2017
Highly Cited
2017
Eosinophilic Solid and Cystic Renal Cell Carcinoma (ESC RCC): Further Morphologic and Molecular Characterization of ESC RCC as a Distinct Entity
Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) has been recently described as a unique and indolent renal neoplasm… 
2017
2017
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation
ARHGEF9 resides on Xq11.1 and encodes collybistin, which is crucial in gephyrin clustering and GABAA receptor localization… 
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Review
2016
Review
2016
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
We report an 8-year-old female with autism spectrum disorder (ASD), intellectual disability and speech delay who was found to… 
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2015
2015
Complex X chromosome rearrangement associated with multiorgan autoimmunity
BackgroundTurner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of… 
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Highly Cited
2011
Highly Cited
2011
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy
Microarray-based comparative genomic hybridization analysis identified a 737-kb microdeletion of Xq11.1, including the cell… 
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2011
2011
Fine mapping of Xq11.1‐q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD)
About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the… 
Highly Cited
2008
Highly Cited
2008
Wilms tumor genetics: Mutations in WT1, WTX, and CTNNB1 account for only about one‐third of tumors
Wilms tumor is genetically heterogeneous, and until recently only one Wilms tumor gene was known, WT1 at 11p13. However, WT1 is… 
Highly Cited
2008
Highly Cited
2008
Functional inactivation of the WTX gene is not a frequent event in Wilms’ tumors
For many years the precise genetic etiology of the majority of Wilms’ tumors has remained unexplained. Recently, the WTX gene… 
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