Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.
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A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardationCharacterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase proteinMolecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthHomologous Recombination and Its Role in CarcinogenesisPhylogenomic approaches to common problems encountered in the analysis of low copy repeats: the sulfotransferase 1A gene family exampleInversions disrupting the factor VIII gene are a common cause of severe haemophilia AX/Y translocations resulting from recombination between homologous sequences on Xp and Yq.X-linked ichthyosis: an update.Molecular mechanisms for CMT1A duplication and HNPP deletion.Chromosome rearrangement by ectopic recombination in Drosophila melanogaster: genome structure and evolution.Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patientsDeletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosomeA multipoint linkage map of the distal short arm of the human X chromosome.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patientsThe same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplicationsFormation of large deletions by illegitimate recombination in the HPRT gene of primary human fibroblasts.Systematic Identification of Determinants for Single Strand Annealing Mediated Deletion Formation in Saccharomyces cerevisiaeOrigin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.Characterisation of a boundary between satellite III and alphoid sequences on human chromosome 10.The role of mitotic recombination in carcinogenesis.Two alternative pathways of double-strand break repair that are kinetically separable and independently modulated.Direct and inverted DNA repeats associated with P-glycoprotein gene amplification in drug resistant Leishmania.A high resolution deletion map of human chromosome Xp22.Susceptibility of proliferating cells to benzo[a]pyrene-induced homologous recombination in mice.Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11.Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray.An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis.Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.Use of inverse PCR to amplify and sequence breakpoints of HPRT deletion and translocation mutations.
P2860
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P2860
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements.
description
1990 nî lūn-bûn
@nan
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
1990年论文
@zh
1990年论文
@zh-cn
name
Frequent deletions of the huma ...... low copy repetitive elements.
@en
type
label
Frequent deletions of the huma ...... low copy repetitive elements.
@en
prefLabel
Frequent deletions of the huma ...... low copy repetitive elements.
@en
P2093
P1433
P1476
Frequent deletions of the huma ...... low copy repetitive elements.
@en
P2093
P304
P356
10.1016/0092-8674(90)90472-Q
P407
P577
1990-05-01T00:00:00Z