about
Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignanciesHigh-resolution mapping of the gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patientsGene structure, DNA methylation, and imprinted expression of the human SNRPN geneSmall nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical regionDeletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionA mouse model for Prader-Willi syndrome imprinting-centre mutationsImprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneMouse homologues of human hereditary disease.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicineLinkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeUniparental 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.Maternal uniparental disomy for chromosome 14Inv dup(15) supernumerary marker chromosomes.A boy with developmental delay and a maternally inherited deletion in 15q11q13Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.Epigenetics and assisted reproductive technology: a call for investigation.Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome.Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region.Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromesLinkage analysis in familial Angelman syndrome.Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.Normal phenotype with paternal uniparental isodisomy for chromosome 21.Nondisjunction of chromosome 15: origin and recombinationTrisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomyPartial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locusMolecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.Distinct phenotypes distinguish the molecular classes of Angelman syndromeGenomic imprinting: mechanism and role in human pathology.Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.A somatic origin of homologous Robertsonian translocations and isochromosomes.Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromesPaternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome
P2860
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P2860
description
1991 nî lūn-bûn
@nan
1991 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի մարտին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Uniparental paternal disomy in Angelman's syndrome.
@ast
Uniparental paternal disomy in Angelman's syndrome.
@en
type
label
Uniparental paternal disomy in Angelman's syndrome.
@ast
Uniparental paternal disomy in Angelman's syndrome.
@en
prefLabel
Uniparental paternal disomy in Angelman's syndrome.
@ast
Uniparental paternal disomy in Angelman's syndrome.
@en
P2093
P1433
P1476
Uniparental paternal disomy in Angelman's syndrome.
@en
P2093
A J Jeffreys
J A Armour
J Clayton-Smith
M E Pembrey
P304
P356
10.1016/0140-6736(91)90278-W
P407
P577
1991-03-01T00:00:00Z