Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis
about
Prader-Willi syndromePaternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosisA maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndromeMeiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restrictionPaternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted lociGenomic imprinting: implications for human disease.Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.Fortuitous detection of uniparental isodisomy of chromosome 6.Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.The new field of epigenomics: implications for cancer and other common disease research.Acute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report.Short interspersed transposable elements (SINEs) are excluded from imprinted regions in the human genome.Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome.Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation.Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.Detection of chromosomal aberrations by a whole-genome microsatellite screenChromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.Preimplantation genetic screening: does it help or hinder IVF treatment and what is the role of the embryo?The spreading of X inactivation into autosomal material of an x;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNAIdentification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomesPeg5/Neuronatin is an imprinted gene located on sub-distal chromosome 2 in the mouse.Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.American College of Medical Genetics statement of diagnostic testing for uniparental disomyImprinting disorders: non-Mendelian mechanisms affecting growth.Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.Evidence of a non-MHC susceptibility locus in type I diabetes linked to HLA on chromosome 6.Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosaGenomic imprinting: a chromatin connectionIdentification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.
P2860
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P2860
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis
description
1995 nî lūn-bûn
@nan
1995 թուականին հրատարակուած գիտական յօդուած
@hyw
1995 թվականին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@ast
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@en
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@nl
type
label
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@ast
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@en
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@nl
prefLabel
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@ast
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@en
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@nl
P356
P1476
Uniparental disomy in humans: ...... cations for prenatal diagnosis
@en
P2093
D H Ledbetter
P304
P356
10.1093/HMG/4.SUPPL_1.1757
P407
P478
P577
1995-01-01T00:00:00Z