Works matching IS 17558166 AND DT 2018 AND VI 11
Results: 62
Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0410-4
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- Publication type:
- Article
The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0409-x
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- Publication type:
- Article
VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0412-2
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- Article
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.
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- 2018
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- Publication type:
- Case Study
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0407-z
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- Publication type:
- Article
Chromosomal abnormalities and copy number variations in fetal ventricular septal defects.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0408-y
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- Article
Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation.
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- 2018
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- Publication type:
- Case Study
Rare gene fusion rearrangement SPTNB1-PDGFRB in an atypical myeloproliferative neoplasm.
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- 2018
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- Publication type:
- Case Study
Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0402-4
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- Article
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature.
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- 2018
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- Publication type:
- Case Study
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.
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- 2018
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- Publication type:
- Case Study
Chromosomes of Asian cyprinid fishes: cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0399-8
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- Publication type:
- Article
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0394-0
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- Publication type:
- Article
Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0397-x
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- Publication type:
- Article
CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0398-9
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- Publication type:
- Article
Recombinant chromosome 4 in two fetuses - case report and literature review.
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- 2018
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- Publication type:
- Case Study
Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0392-2
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- Publication type:
- Article
Application of chromosomal microarray analysis in products of miscarriage.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0396-y
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- Publication type:
- Article
Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0395-z
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- Publication type:
- Article
Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0391-3
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- Publication type:
- Article
Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0390-4
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- Publication type:
- Article
Submicroscopic chromosomal imbalances contribute to early abortion.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0386-0
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- Article
An uncommon t(9;11)(p24;q22) with monoallelic loss of <italic>ATM</italic> and <italic>KMT2A</italic> genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0389-x
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- Publication type:
- Article
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.
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- 2018
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- Publication type:
- Case Study
Publisher Correction: Is DNA methylation the new guardian of the genome?
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- 2018
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- Publication type:
- Correction Notice
Yuri B. Yurov (1951-2017).
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- 2018
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- Publication type:
- Obituary
A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3).
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- 2018
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- Publication type:
- Case Study
Characterization of chromosome composition of sugarcane in nobilization by using genomic in situ hybridization.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0387-z
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- Publication type:
- Article
Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0384-2
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- Publication type:
- Article
Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0382-4
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- Publication type:
- Article
An improved method for inducing prometaphase chromosomes in plants.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0380-6
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- Publication type:
- Article
Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0376-2
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- Publication type:
- Article
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature.
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- 2018
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- Publication type:
- Case Study
Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.
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- 2018
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- Publication type:
- Case Study
Loss of <italic>DMRT1</italic> gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0379-z
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- Publication type:
- Article
Molecular cytogenetic identification of three rust-resistant wheat-<italic>Thinopyrum ponticum</italic> partial amphiploids.
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- Molecular Cytogenetics (17558166), 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13039-018-0378-0
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- Publication type:
- Article
Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.
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- 2018
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- Publication type:
- Case Study
Correction to: Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.
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- 2018
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- Publication type:
- Correction Notice
Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings.
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- 2018
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- Publication type:
- Case Study
Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0372-6
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- Publication type:
- Article
Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44).
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- 2018
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- Publication type:
- Case Study
Parental origin of deletions and duplications – about the necessity to check for cryptic inversions.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0369-1
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- Publication type:
- Article
3C and 3C-based techniques: the powerful tools for spatial genome organization deciphering.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0368-2
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- Publication type:
- Article
Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0367-3
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- Publication type:
- Article
Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-017-0349-x
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- Publication type:
- Article
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0364-6
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- Publication type:
- Article
Cytogenetics and stripe rust resistance of wheat–<italic>Thinopyrum elongatum</italic> hybrid derivatives.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0366-4
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- Publication type:
- Article
Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.
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- 2018
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- Publication type:
- Case Study
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0363-7
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- Publication type:
- Article
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0359-3
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- Publication type:
- Article