about
Somatic mosaicism in the human genomeMicroarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?Copy-neutral loss of heterozygosity is prevalent and a late event in the pathogenesis of FLT3/ITD AMLAcute promyelocytic leukemia with a cryptic insertion of RARA into PML on chromosome 15 due to uniparental isodisomy: A case report.Genome-wide UPD screening in patients with intellectual disabilityHigh-resolution SNP array analysis of patients with developmental disorder and normal array CGH results.Somatic genome variations in health and diseaseSomatic genomic variations in extra-embryonic tissuesOntogenetic variation of the human genome.A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesConcurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Small supernumerary marker chromosomes and uniparental disomy have a story to tellRegions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utilityChromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis.Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Bioinformatic Tools Identify Chromosome-Specific DNA Probes and Facilitate Risk Assessment by Detecting Aneusomies in Extra-embryonic Tissues.Single cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases.Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testingMolecular Cytogenetics: the first impact factor (2.36)Thoughts about SLC16A2, TSIX and XIST gene like sites in the human genome and a potential role in cellular chromosome counting.Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis.Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome.Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia.Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Acquired uniparental disomy of chromosome 9p in hematologic malignancies.Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?Infantile neuroaxonal dystrophy caused by uniparental disomy.Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter.Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.Mosaic paternal genome-wide uniparental isodisomy with down syndrome.Two IUGR foetuses with maternal uniparental disomy of chromosome 6 or UPD(6)mat.Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Cytogenetic contribution to uniparental disomy (UPD).
@ast
Cytogenetic contribution to uniparental disomy (UPD).
@en
type
label
Cytogenetic contribution to uniparental disomy (UPD).
@ast
Cytogenetic contribution to uniparental disomy (UPD).
@en
prefLabel
Cytogenetic contribution to uniparental disomy (UPD).
@ast
Cytogenetic contribution to uniparental disomy (UPD).
@en
P2860
P356
P1476
Cytogenetic contribution to uniparental disomy (UPD).
@en
P2093
Thomas Liehr
P2860
P2888
P356
10.1186/1755-8166-3-8
P577
2010-03-29T00:00:00Z
P5875
P6179
1029996752