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Xq11.1
A chromosome band present on Xq
National Institutes of Health
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2 relations
Chromosomes
FAM123B 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.
M. Aarabi
,
Elena Kessler
,
+4 authors
S. Yatsenko
European Journal of Medical Genetics
2019
Corpus ID: 51723140
Review
2017
Review
2017
ARHGEF9 disease
M. Alber
,
V. Kalscheuer
,
+19 authors
B. Minassian
Neurology: Genetics
2017
Corpus ID: 9907706
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
K. Trpkov
,
Hatem Abou-Ouf
,
+18 authors
T. Bismar
American Journal of Surgical Pathology
2017
Corpus ID: 26000556
Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) has been recently described as a unique and indolent renal neoplasm…
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2017
2017
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation
Jing-Yang Wang
,
P. Zhou
,
+9 authors
W. Liao
Neurogenetics
2017
Corpus ID: 23847098
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.
Gifty Bhat
,
D. Lagrave
,
A. Millson
,
John C. Herriges
,
A. Lamb
,
R. Matalon
European Journal of Medical Genetics
2016
Corpus ID: 42425279
2012
2012
Identification and analysis of mutations in WTX and WT1 genes in peripheral blood and tumor tissue of children with Wilms' tumor.
Hui Wang
,
Ying Shen
,
N. Sun
,
Ye-ping Jiang
,
Ming-lei Li
,
Lin Sun
Chinese Medical Journal
2012
Corpus ID: 32135804
BACKGROUND Wilms' tumor (nephroblastoma) is the most common pediatric kidney cancer. Only one Wilms' tumor gene is known, WT1 at…
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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
K. Shimojima
,
Midori Sugawara
,
+4 authors
Toshiyuki Yamamoto
Journal of Human Genetics
2011
Corpus ID: 21516639
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)
K. Kantojärvi
,
Ilona Kotala
,
+5 authors
I. Järvelä
Autism Research
2011
Corpus ID: 22715938
About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the…
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Highly Cited
2008
Highly Cited
2008
Wilms tumor genetics: Mutations in WT1, WTX, and CTNNB1 account for only about one‐third of tumors
E. Ruteshouser
,
Stephen M Robinson
,
V. Huff
Genes, Chromosomes and Cancer
2008
Corpus ID: 8403631
Wilms tumor is genetically heterogeneous, and until recently only one Wilms tumor gene was known, WT1 at 11p13. However, WT1 is…
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Highly Cited
2008
Highly Cited
2008
Functional inactivation of the WTX gene is not a frequent event in Wilms’ tumors
D. Perotti
,
B. Gamba
,
+7 authors
P. Radice
Oncogene
2008
Corpus ID: 21139989
For many years the precise genetic etiology of the majority of Wilms’ tumors has remained unexplained. Recently, the WTX gene…
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