Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome
about
Prader-Willi syndrome is caused by disruption of the SNRPN geneIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbThe tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15Genetics of Prader-Willi syndrome and Prader-Will-Like syndromeThe inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.Microisolation of the chicken Z chromosome and construction off microclone libraries.Chromosome microdissection and cloning in human genome and genetic disease analysis.Distal 8p deletion (8p23.1----8pter): a common deletion?Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.Molecular and cytogenetic studies of the Prader-Willi syndrome.The Prader-Willi syndrome.Microdeletion syndromes, balanced translocations, and gene mappingA boy with developmental delay and a maternally inherited deletion in 15q11q13Prader-Willi syndrome: current understanding of cause and diagnosis.Rearrangements of chromosome 15 in epilepsy.The association of Angelman's syndrome with deletions within 15q11-13Chromosome 15 uniparental disomy is not frequent in Angelman syndrome.Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomyAngelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Isolation and analysis of DNA markers specific to human chromosome 15.Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunctionCytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromesBenefits and limitations of prenatal screening for Prader-Willi syndrome.A systematic review of genetic syndromes with obesity.A DraI RFLP detected for probe pIR4-3R [D15S11] on chromosome 15q.A BsaBI RFLP detected for probe pML34 [D15S9] on chromosome 15q.BanI polymorphism at the XBP1 locus.StyI polymorphism at the D15S11 locus.RFLPs are detected by two probes isolated by chromosome walking from pTD3-21 (D15S10) which maps to 15q11.2-12.Three allele TaqI RFLP for probe 3-21 [D15S10] on chromosome 15qAngelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.Beta amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome.
P2860
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P2860
Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome
description
1986 nî lūn-bûn
@nan
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
1986年论文
@zh
1986年论文
@zh-cn
name
Isolation of molecular probes ...... y in the Prader-Willi syndrome
@ast
Isolation of molecular probes ...... y in the Prader-Willi syndrome
@en
type
label
Isolation of molecular probes ...... y in the Prader-Willi syndrome
@ast
Isolation of molecular probes ...... y in the Prader-Willi syndrome
@en
prefLabel
Isolation of molecular probes ...... y in the Prader-Willi syndrome
@ast
Isolation of molecular probes ...... y in the Prader-Willi syndrome
@en
P2093
P2860
P356
P1476
Isolation of molecular probes ...... y in the Prader-Willi syndrome
@en
P2093
P2860
P304
P356
10.1073/PNAS.83.12.4408
P407
P577
1986-06-01T00:00:00Z