Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
about
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosisThe elimination of primer-dimer accumulation in PCRIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbMolecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Molecular mechanisms in Angelman syndrome: a survey of 93 patients.Automated analysis of multiplex microsatellites.The Prader-Willi syndrome.Intrachromosomal triplication of 15q11-q13.Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.Molecular screening for proximal 15q abnormalities in a mentally retarded population.Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignanciesPhysical mapping of the minimal region of loss in 5q- chromosome.Familial Prader-Willi syndrome: case report and a literature review.Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosisCharacterization of short tandem repeats from thirty-one human telomeres.Charging YOYO-1 on capillary wall for online DNA intercalation and integrating this approach with multiplex PCR and bare narrow capillary-hydrodynamic chromatography for online DNA analysisNondisjunction of chromosome 15: origin and recombinationDifferent mechanisms and recurrence risks of imprinting defects in Angelman syndrome.Distinct phenotypes distinguish the molecular classes of Angelman syndromeMolecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?Copy number variations at the Prader-Willi syndrome region on chromosome 15 and associations with obesity in whites.Uniparental disomy occurs infrequently in Wilms tumor patients.A somatic origin of homologous Robertsonian translocations and isochromosomes.Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesLINE-1 methylation status of endogenous DNA double-strand breaks.Epilepsy in Prader-Willi syndrome: clinical, diagnostic and treatment aspects.Angelman syndrome: review of clinical and molecular aspects.Visual capacity and Prader-Willi syndrome.Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphismsStructure and function of the human chromosome 15 imprinting center.Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients.Robertsonian (15q;15q) translocation in a child with Angelman syndrome: evidence of uniparental disomy.Genomic alterations in nasopharyngeal carcinoma: loss of heterozygosity and Epstein-Barr virus infectionAngelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
P2860
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P2860
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
Multiplex PCR of three dinucle ...... chanism of uniparental disomy.
@en
type
label
Multiplex PCR of three dinucle ...... chanism of uniparental disomy.
@en
prefLabel
Multiplex PCR of three dinucle ...... chanism of uniparental disomy.
@en
P2093
P356
P1476
Multiplex PCR of three dinucle ...... echanism of uniparental disomy
@en
P2093
A Chakravarti
A Mutirangura
D H Ledbetter
F Greenberg
M G Butler
R D Nicholls
P304
P356
10.1093/HMG/2.2.143
P577
1993-02-01T00:00:00Z