Works in Molecular Cytogenetics (17558166), 2015, Vol 8, Issue 1
Results: 80
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0179-7
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- Article
Global DNA Methylation patterns on marsupial and devil facial tumour chromosomes.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0176-x
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- Article
Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
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- 2015
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- Correction Notice
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
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- 2015
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- Case Study
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0178-8
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- Article
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0175-y
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- Article
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0174-z
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- Article
A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0172-1
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- Article
A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0173-0
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- Article
Double inv(3)(q21q26.2) in acute myeloid leukemia is resulted from an acquired copy neutral loss of heterozygosity of chromosome 3q and associated with disease progression.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0171-2
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- Article
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0170-3
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- Article
An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0169-9
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- Publication type:
- Article
Aneusomy detection with Karyolite-Bac on Beads® is a cost-efficient and high throughput strategy in the molecular analyses of the early pregnancy conception losses.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0168-x
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- Article
Molecular cytogenetic studies characterizing a novel complex karyotype with an uncommon 5q22 deletion in childhood acute myeloid leukemia.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0167-y
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- Article
Chromosome number and ploidy level of balm (Melissa officinalis).
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0166-z
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- Article
Deletion 9p23 to 9p11.1 as sole additional abnormality in a Philadelphia positive chronic myeloid leukemia in blast crisis: a rare event.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0165-0
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- Article
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0164-1
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- Article
Reversing chromatin accessibility differences that distinguish homologous mitotic metaphase chromosomes.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0159-y
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- Article
Observations of the genomic landscape beyond 1p19q deletions and EGFR amplification in glioma.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0156-1
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- Article
Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0155-2
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- Article
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0163-2
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- Article
Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0162-3
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- Article
Comparative cytogenetics in the genus Hoplias (Characiformes, Erythrinidae) highlights contrasting karyotype evolution among congeneric species.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0161-4
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- Article
Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0160-5
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- Article
Construction of BAC contig maps of homoeologous chromosomes A12 and D12 of Gossypium hirsutum L. acc. TM-1.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0158-z
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- Article
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0157-0
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- Article
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0154-3
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- Article
Complex X chromosome rearrangement associated with multiorgan autoimmunity.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0152-5
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- Article
Chromosome territory repositioning induced by PHA-activation of lymphocytes: A 2D and 3D appraisal.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0146-3
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- Article
Assessment of copy number variations in the brain genome of schizophrenia patients.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0144-5
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- Article
Preimplantation genetic screening of blastocysts by multiplex qPCR followed by fresh embryo transfer: validation and verification.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0140-9
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- Article
PAX5-KIAA1549L: a novel fusion gene in a case of pediatric B-cell precursor acute lymphoblastic leukemia.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0138-3
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- Article
High rates of submicroscopic aberrations in karyotypically normal acute lymphoblastic leukemia.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0153-4
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- Article
6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0151-6
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- Article
Divergent evolutionary behavior of H3 histone gene and rDNA clusters in venerid clams.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0150-7
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- Article
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0149-0
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- Article
Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0148-1
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- Article
Evaluation of multiplex ligation dependent probe amplification (MLPA) for identification of acute lymphoblastic leukemia with an intrachromosomal amplification of chromosome 21 (iAMP21) in a Brazilian population.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0147-2
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- Article
Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0143-6
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- Article
Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0145-4
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- Article
Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0142-7
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- Article
Azoospermia and trisomy 18p syndrome: a fortuitous association? A patient report and a review of the literature.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0141-8
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- Article
7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0139-2
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- Article
Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0137-4
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- Article
Microarray-based genomic profiling and in situ hybridization on fibrotic bone marrow biopsies for the identification of numerical chromosomal abnormalities in myelodysplastic syndrome.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0136-5
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- Article
Genomic instability of human embryonic stem cell lines using different passaging culture methods.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0133-8
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- Article
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0134-7
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- Article
Terminal 18q deletions are stabilized by neotelomeres.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0135-6
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- Article
Comparability of tumor-cytogenetics and -DNA-cytometry.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0132-9
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- Article
Influence of aflatoxin B1 on copy number variants in human leukocytes in vitro.
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- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0131-x
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- Article