Works matching IS 17558166 AND DT 2019 AND VI 12 AND IP 1
Results: 55
Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0465-x
- By:
- Publication type:
- Article
Laundering CNV data for candidate process prioritization in brain disorders.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0468-7
- By:
- Publication type:
- Article
A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0464-y
- By:
- Publication type:
- Article
The variome concept: focus on CNVariome.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0467-8
- By:
- Publication type:
- Article
A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0463-z
- By:
- Publication type:
- Article
A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13039-019-0461-1
- By:
- Publication type:
- Article
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0462-0
- By:
- Publication type:
- Article
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0459-8
- By:
- Publication type:
- Article
Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0460-2
- By:
- Publication type:
- Article
Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0458-9
- By:
- Publication type:
- Article
Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0457-x
- By:
- Publication type:
- Article
Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0456-y
- By:
- Publication type:
- Article
Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0455-z
- By:
- Publication type:
- Article
Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0454-0
- By:
- Publication type:
- Article
C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0453-1
- By:
- Publication type:
- Article
Genetic analysis of products of conception using a HLPA/SNP-array strategy.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0452-2
- By:
- Publication type:
- Article
Non-invasive prenatal testing reveals copy number variations related to pregnancy complications.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0451-3
- By:
- Publication type:
- Article
Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0449-x
- By:
- Publication type:
- Article
Transgenerational telomere erosion in the monogametic sex: human telomeres progressively erode in the female germline and do not lengthen in aged testes.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0450-4
- By:
- Publication type:
- Article
Submicroscopic aberrations of chromosome 16 in prenatal diagnosis.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0448-y
- By:
- Publication type:
- Article
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0438-0
- By:
- Publication type:
- Article
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0446-0
- By:
- Publication type:
- Article
Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids – the state of art.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0447-z
- By:
- Publication type:
- Article
A case of acute promyelocytic leukemia variant with derivative chromosome 3 der(3)t(3;8) associated with 8q partial gain.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0445-1
- By:
- Publication type:
- Article
Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0443-3
- By:
- Publication type:
- Article
Abstracts of the 12<sup>th</sup> European Cytogenomics Conference 2019: Salzburg, Austria. 6-9 July 2019.
- Published in:
- 2019
- Publication type:
- Calendar
Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0441-5
- By:
- Publication type:
- Article
Genome reorganization in different cancer types: detection of cancer specific breakpoint regions.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0435-3
- By:
- Publication type:
- Article
Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0444-2
- By:
- Publication type:
- Article
One-fits-all pretreatment protocol facilitating Fluorescence In Situ Hybridization on formalin-fixed paraffin-embedded, fresh frozen and cytological slides.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0442-4
- By:
- Publication type:
- Article
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0440-6
- By:
- Publication type:
- Article
Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0437-1
- By:
- Publication type:
- Article
Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0436-2
- By:
- Publication type:
- Article
Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0434-4
- By:
- Publication type:
- Article
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.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0432-6
- By:
- Publication type:
- Article
Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0431-7
- By:
- Publication type:
- Article
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0430-8
- By:
- Publication type:
- Article
Analysis of copy number variations induced by ultrashort electron beam radiation in human leukocytes in vitro.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0433-5
- By:
- Publication type:
- Article
The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0429-1
- By:
- Publication type:
- Article
Constitutional 763.3 Kb chromosome 1q43 duplication encompassing only CHRM3 gene identified by next generation sequencing (NGS) in a child with intellectual disability.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0427-3
- By:
- Publication type:
- Article
The karyotype of Aegilops geniculata and its use to identify both addition and substitution lines of wheat.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0428-2
- By:
- Publication type:
- Article
Cell maps on the human genome.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0426-4
- By:
- Publication type:
- Article
Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0425-5
- By:
- Publication type:
- Article
Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0424-6
- By:
- Publication type:
- Article
Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0423-7
- By:
- Publication type:
- Article
Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0422-8
- By:
- Publication type:
- Article
Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0416-6
- By:
- Publication type:
- Article
The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0421-9
- By:
- Publication type:
- Article
Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0420-x
- By:
- Publication type:
- Article
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements.
- Published in:
- Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0415-7
- By:
- Publication type:
- Article