X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

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http://www.wikidata.org/entity/Q35039915
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthThe genetics of human skin disease.Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis.Genome-wide screen reveals replication pathway for quasi-palindrome fragility dependent on homologous recombination.Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare AssociationWhole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Exclusion of the 750-kb genetically unstable region at Xq27 as a candidate locus for prostate malignancy in HPCX1-linked families.Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.Analyzing the miRNA-Gene Networks to Mine the Important miRNAs under Skin of Human and MouseA tribute to josé maría ("chema") cantú.Congenital hypertrichosis universalis in Mexican female twins.[Genetic hair diseases. An update].Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Analyses of copy number variation reveal putative susceptibility loci in MTX-induced mouse neural tube defects.Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.Single-strand annealing between inverted DNA repeats: Pathway choice, participating proteins, and genome destabilizing consequences
P2860

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

Item
http://www.wikidata.org/entity/Q35039915
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
X-linked congenital hypertrich ...... -specific palindrome near SOX3
@ast
X-linked congenital hypertrich ...... -specific palindrome near SOX3
@en
type
label
X-linked congenital hypertrich ...... -specific palindrome near SOX3
@ast
X-linked congenital hypertrich ...... -specific palindrome near SOX3
@en
prefLabel
X-linked congenital hypertrich ...... -specific palindrome near SOX3
@ast
X-linked congenital hypertrich ...... -specific palindrome near SOX3
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
X-linked congenital hypertrich ...... -specific palindrome near SOX3
@en
P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2011.05.004
P407
P433
P478
P50
P577
P5875
P698
P921
P932