Works matching IS 17558166 AND DT 2020 AND VI 13 AND IP 1
Results: 51
Confined placental mosaicism of Duchenne muscular dystrophy: a case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00520-3
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Detailed molecular cytogenetic characterisation of the myeloid cell line U937 reveals the fate of homologous chromosomes and shows that centromere capture is a feature of genome instability.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00517-y
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Gross genetic alterations and genetic heterogeneity in a periductal stromal tumor of the breast.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00516-z
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Identification and characterization of satellite DNAs in Poa L.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00518-x
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A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00514-1
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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00515-0
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De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplication.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00513-2
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A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00512-3
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Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00511-4
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Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00510-5
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Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00509-y
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Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00506-1
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Application value of NIPT for uncommon fetal chromosomal abnormalities.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00508-z
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Two rare cases of acute myeloid leukemia with t(8;16)(p11.2;p13.3) and 1q duplication: case presentation and literature review.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00507-0
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Prenatal diagnosis of mosaic trisomy 2 and literature review.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00504-3
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13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00500-7
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An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00499-x
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Clinical application of chromosomal microarray analysis for fetuses with craniofacial malformations.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00502-5
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Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00503-4
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Mapping epigenetic modifications on chicken lampbrush chromosomes.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00496-0
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Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00494-2
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Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00505-2
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Coexistence of recurrent chromosomal abnormalities and the Philadelphia chromosome in acute and chronic myeloid leukemias: report of five cases and review of literature.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13039-020-00501-6
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Prenatal diagnosis of rearrangements in the fetal 22q11.2 region.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00498-y
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Does ICSI for in vitro fertilization cause more aneuploid embryos?
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00497-z
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Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00492-4
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Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00491-5
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Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00495-1
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Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00493-3
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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00490-6
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Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00489-z
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A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00483-5
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Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00486-2
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Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00485-3
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Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00484-4
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Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00488-0
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Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00487-1
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Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00482-6
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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00480-8
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A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00479-1
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Copy number variations associated with fetal congenital kidney malformations.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-00481-7
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Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0478-5
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Non-invasive prenatal screening for Emanuel syndrome.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0476-7
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Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0471-z
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Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0472-y
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Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0473-x
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Non-invasive prenatal test to screen common trisomies in twin pregnancies.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0475-8
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Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5'MYH11/3'CBFB gene fusion: a report of two cases and literature review.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0474-9
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Chromoanagenesis: a piece of the macroevolution scenario.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0470-0
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Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities.
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- Molecular Cytogenetics (17558166), 2020, v. 13, n. 1, p. 1, doi. 10.1186/s13039-020-0469-6
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