Small supernumerary marker chromosomes (sSMC) in humans.
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Small supernumerary marker chromosomes and their correlation with specific syndromesFluorescence In situ Hybridization: Cell-Based Genetic Diagnostic and Research ApplicationsAssociation of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigmaCharacterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal maleCentromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics.DNA degradation during maturation of erythrocytes - molecular cytogenetic characterization of Howell-Jolly bodies.New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.The clinical analysis of small supernumerary marker chromosomes in 17 children with mos 45,X/46,X,+mar karyotype.Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndromeSomatic genome variations in health and diseaseNeocentromeres: new insights into centromere structure, disease development, and karyotype evolutionGenes on B chromosomes of vertebrates.Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.Small supernumerary marker chromosomes and uniparental disomy have a story to tellDirectly transmitted unbalanced chromosome abnormalities and euchromatic variantsPaternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.A new multicolor fluorescence in situ hybridization probe set directed against human heterochromatin: HCM-FISH.Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature.Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes.Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsComplex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridizationSmall supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among themMechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature.Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature.Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization.A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin.Human Ring Chromosomes - New Insights for their Clinical Significance.Handling small supernumerary marker chromosomes in prenatal diagnostics.Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances.Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18--how to counsel?Copy-number changes in prenatal diagnosis.Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.Marker chromosomes.Fluorescence in situ hybridization techniques in medical diagnostics.A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.Characterisation of supernumerary chromosomal markers: a study of 13 cases.
P2860
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P2860
Small supernumerary marker chromosomes (sSMC) in humans.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Small supernumerary marker chromosomes (sSMC) in humans.
@ast
Small supernumerary marker chromosomes (sSMC) in humans.
@en
type
label
Small supernumerary marker chromosomes (sSMC) in humans.
@ast
Small supernumerary marker chromosomes (sSMC) in humans.
@en
prefLabel
Small supernumerary marker chromosomes (sSMC) in humans.
@ast
Small supernumerary marker chromosomes (sSMC) in humans.
@en
P2093
P356
P1476
Small supernumerary marker chromosomes (sSMC) in humans.
@en
P2093
P356
10.1159/000079572
P577
2004-01-01T00:00:00Z