Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0415-7
Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0441-5
The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0429-1
Pathway-based classification of genetic diseases
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0418-4
Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids – the state of art
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0447-z
Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0417-5
Laundering CNV data for candidate process prioritization in brain disorders
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0468-7
Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0425-5
Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0457-x
Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0465-x
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0446-0
Genetic analysis of products of conception using a HLPA/SNP-array strategy
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0452-2
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0414-8
Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0451-3
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0464-y
Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0433-5
The karyotype of Aegilops geniculata and its use to identify both addition and substitution lines of wheat
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0428-2
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0432-6
The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0421-9
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0459-8
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0430-8
A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0463-z
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0462-0
Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0458-9
Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0427-3
Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0422-8
Transgenerational telomere erosion in the monogametic sex: human telomeres progressively erode in the female germline and do not lengthen in aged testes
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0450-4
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0444-2
A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0445-1
Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0455-z
Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0443-3
Genome reorganization in different cancer types: detection of cancer specific breakpoint regions
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0435-3
Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0434-4
Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0456-y
A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0461-1
Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0437-1
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0436-2
Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0416-6
Bifid cardiac apex in Pallister Killian syndrome: case report
来源期刊:Molecular CytogeneticsDOI:10.21860/medflum2020_237307
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0431-7
Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0460-2
A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving MYCN and IGH
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0419-3
Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0454-0
C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0453-1
Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0449-x
Abstracts of the 12th European Cytogenomics Conference 2019
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0439-z
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0440-6
One-fits-all pretreatment protocol facilitating Fluorescence In Situ Hybridization on formalin-fixed paraffin-embedded, fresh frozen and cytological slides
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0442-4
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion
来源期刊:Molecular CytogeneticsDOI:10.1186/s13039-019-0438-0