Works matching IS 17558166 AND DT 2017 AND VI 10
Results: 47
Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0351-3
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- Article
De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0347-z
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- Article
Mosaicism for structural non-centromeric autosomal rearrangement in prenatal diagnoses: evidence for sex-specific selection against chromosomal abnormalities.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0346-0
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- Article
Noninvasive prenatal diagnosis of fetal aneuploidy by circulating fetal nucleated red blood cells and extravillous trophoblasts using silicon-based nanostructured microfluidics.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0343-3
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- Article
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.
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- 2017
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- Case Study
7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.
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- 2017
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- Publication type:
- Case Study
The exon junction complex factor Y14 is dynamic in the nucleus of the beetle Tribolium castaneum during late oogenesis.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0342-4
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- Article
A case of placental trisomy 18 mosaicism causing a false negative NIPT result.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0341-5
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- Article
Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia.
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- 2017
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- Case Study
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0339-z
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- Publication type:
- Article
Comparative cytogenetics in three Sciaenid species (Teleostei, Perciformes): evidence of interspecific chromosomal diversification.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0338-0
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- Article
Mosaic UPD(7q)mat in a patient with silver Russell syndrome.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0337-1
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- Article
Meeting abstracts from the 11th European Cytogenetics Conference: late breaking abstracts.
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- 2017
- Publication type:
- Abstract
A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0335-3
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- Publication type:
- Article
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region.
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- Molecular Cytogenetics (17558166), 2017, v. 10, n. 1, p. 1, doi. 10.1186/s13039-017-0336-2
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- Article
CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.
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- Molecular Cytogenetics (17558166), 2017, v. 10, n. 1, p. 1, doi. 10.1186/s13039-017-0334-4
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- Article
A de novo complex chromosome rearrangement associated with multisystematic abnormalities, a case report.
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- 2017
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- Publication type:
- Case Study
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0333-5
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- Publication type:
- Article
Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0330-8
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- Article
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1
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- Article
Optimization of proximity ligation assay (PLA) for detection of protein interactions and fusion proteins in non-adherent cells: application to pre-B lymphocytes.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0328-2
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- Article
Combination of t(4;14), del(17p13), del(1p32) and 1q21 gain FISH probes identifies clonal heterogeneity and enhances the detection of adverse cytogenetic profiles in 233 newly diagnosed multiple myeloma.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0327-3
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- Article
Meeting abstracts from the 11th European Cytogenetics Conference.
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- 2017
- Publication type:
- Abstract
Scattered genomic amplification in dedifferentiated liposarcoma.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0325-5
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- Article
Abstracts from the 3rd Conference on Aneuploidy and Cancer: Clinical and Experimental Aspects.
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- 2017
- Publication type:
- Abstract
Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.
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- 2017
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- Publication type:
- Case Study
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0324-6
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- Article
A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning.
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- 2017
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- Publication type:
- Case Study
A novel BCR-ABL1 fusion gene with genetic heterogeneity indicates a good prognosis in a chronic myeloid leukemia case.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0322-8
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- Publication type:
- Article
Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0321-9
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- Article
Clinicohematological and cytogenetic profile of myelodysplastic syndromes in Pakistan-compare and contrast.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0318-4
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- Article
Importance of biomarkers in glioblastomas patients receiving local BCNU wafer chemotherapy.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0317-5
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- Article
A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0316-6
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- Article
Identification of mosaic and segmental aneuploidies by next-generation sequencing in preimplantation genetic screening can improve clinical outcomes compared to array-comparative genomic hybridization.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0315-7
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Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor.
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- 2017
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- Publication type:
- Case Study
Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0313-9
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- Article
Is DNA methylation the new guardian of the genome?
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0314-8
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- Article
Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0312-x
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- Article
Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0311-y
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- Article
Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0301-0
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- Article
Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0309-5
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- Publication type:
- Article
Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0308-6
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- Article
Isolation and characterization of chromosomal markers in Poa pratensis.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0307-7
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- Article
Multiple MYO18A-PDGFRB fusion transcripts in a myeloproliferative neoplasm patient with t(5;17)(q32;q11).
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- 2017
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- Publication type:
- Case Study
"Classical cytogenetics" is not equal to "banding cytogenetics".
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0305-9
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- Publication type:
- Article
MLPA analysis in a cohort of patients with autism.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0302-z
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- Publication type:
- Article
Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants.
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- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0303-y
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- Publication type:
- Article