Works matching IS 17558166 AND DT 2022 AND VI 15 AND IP 1
Results: 54
Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH).
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00625-x
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- Article
Somatic mosaicism in the diseased brain.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00624-y
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- Article
Observations on chromosome-specific sequencing for the construction of cross-species chromosome homology maps and its resolution of human:alpaca homology.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00622-0
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- Article
Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00621-1
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- Article
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00620-2
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- Article
Identification of a familial complex chromosomal rearrangement by optical genome mapping.
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- 2022
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- Publication type:
- Case Study
Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report.
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- 2022
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- Publication type:
- Case Study
Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00617-x
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- Article
Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00616-y
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- Article
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.
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- 2022
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- Publication type:
- Case Study
A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.
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- 2022
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- Publication type:
- Case Study
Svetlana G. Vorsanova (1945–2021).
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00613-1
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- Article
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00612-2
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- Article
Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family.
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- 2022
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- Case Study
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00610-4
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- Article
Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00611-3
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- Article
Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00608-y
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- Article
21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00606-0
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- Article
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00607-z
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- Article
Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.
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- 2022
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- Publication type:
- Case Study
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.
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- 2022
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- Publication type:
- Case Study
Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00603-3
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- Article
Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.
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- 2022
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- Case Study
First case of two supernumerary markers derived from chromosome 5 and chromosome 8.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00601-5
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- Article
Mechanisms of structural chromosomal rearrangement formation.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00600-6
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- Article
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00599-w
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- Article
Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype.
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- 2022
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- Case Study
Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00597-y
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- Article
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.
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- 2022
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- Case Study
Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00594-1
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- Article
Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.
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- 2022
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- Case Study
Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00592-3
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- Article
Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00593-2
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- Article
Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report.
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- 2022
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- Publication type:
- Case Study
Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13039-022-00589-y
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- Article
Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype.
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- 2022
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- Case Study
New insights regarding origin of monosomy occurrence in early developing embryos as demonstrated in preimplantation genetic testing.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00582-5
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- Article
Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00588-z
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- Article
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.
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- 2022
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- Case Study
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00579-0
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- Article
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
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- 2022
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- Publication type:
- Case Study
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00584-3
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- Article
Uniparental disomy is a chromosomic disorder in the first place.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00585-2
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- Article
ZNF384 rearrangement in acute lymphocytic leukemia with renal involvement as the first manifestation is associated with a poor prognosis: a case report.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00583-4
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- Publication type:
- Article
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00581-6
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- Article
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00580-7
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- Article
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-021-00578-7
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- Publication type:
- Article
Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene.
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- Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00632-y
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- Article
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report.
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- 2022
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- Publication type:
- Case Study
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report.
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- 2022
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- Publication type:
- Case Study