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Xq13.1

A chromosome band present on Xq
National Institutes of Health

Related topics

Related topics

7 relations
ChromosomesFOXO4 wt AlleleIL2RG wt AlleleKIF4A wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay
Abstract Background: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been reported in autism spectrum disorder (ASD… 
2012
2012
A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl with Craniofrontonasal Syndrome
Craniofrontonasal syndrome is mainly characterized by frontonasal dysplasia, telorbitism, a broad nasal root, and frequently a… 
2001
2001
ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in Xq13.1
Abstract. We searched for novel genes as candidates of X-linked dystonia parkinsonism (XDP) in the critical interval of Xq13.1… 
1999
1999
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1
Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described… 
1999
1999
Cloning and mapping of members of the MYM family.
Tandem repeats of a novel, putative, zinc-binding motif (MYM) have been described within the products of two, highly homologous… 
Review
1998
Review
1998
Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online.
Cystic fibrosis (CF) is the most common fatal autosomal recessive multisystem disorder, which occurs mainly in European-derived… 
1998
1998
Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online.
Charcot-Marie-Tooth type I demyelinating neuropathies are genetically heterogeneous disorders (chrmosome 17,1,X). There are at… 
1998
1998
DLG3, the gene encoding human neuroendocrine Dlg (NE-Dlg), is located within the 1.8-Mb dystonia-parkinsonism region at Xq13.1.
Neuroendocrine-Dlg (NE-Dlg) is a member of the discs-large-related (DLG) subfamily of the membrane-associated guanylate kinase… 
1997
1997
AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism
Abstract We have mapped AFX1 and p54nrb to a yeast artificial chromosome (YAC) contig of Xq13.1 that harbors the X-linked… 
1992
1992
Refined localization of human connexin32 gene locus, GJB1, to Xq13.1.
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