Found: 76
Select item for more details and to access through your institution.
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0075-6
- By:
- Publication type:
- Article
Genomic amplification of MYC as double minutes in a patient with APL-like leukemia.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0067-6
- By:
- Publication type:
- Article
Determining parental origin of embryo aneuploidy: analysis of genetic error observed in 305 embryos derived from anonymous donor oocyte IVF cycles.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0068-5
- By:
- Publication type:
- Article
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0065-8
- By:
- Publication type:
- Article
Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0097-0
- By:
- Publication type:
- Article
TRIP11-PDGFRB fusion in a patient with a therapyrelated myeloid neoplasm with t(5;14)(q33;q32) after treatment for acute promyelocytic leukemia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Non-coding RNA derived from a conservative subtelomeric tandem repeat in chicken and Japanese quail somatic cells.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 228, doi. 10.1186/s13039-014-0102-7
- By:
- Publication type:
- Article
Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 186, doi. 10.1186/s13039-014-0100-9
- By:
- Publication type:
- Article
Genes on B chromosomes of vertebrates.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 164, doi. 10.1186/s13039-014-0099-y
- By:
- Publication type:
- Article
In silico molecular cytogenetics: a bioinformatic approach to prioritization of candidate genes and copy number variations for basic and clinical genome research.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 143, doi. 10.1186/s13039-014-0098-z
- By:
- Publication type:
- Article
Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 129, doi. 10.1186/s13039-014-0096-1
- By:
- Publication type:
- Article
Genetic changes observed in a case of adult pilocytic astrocytoma revealed by array CGH analysis.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and lateonset autoimmune inflammatory response.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Hyperdiploidy associated with T315I mutation in BCR-ABL kinase domain in an accelerated phasechronic myeloid leukemia case.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
5'RUNX1-3'USP42 chimeric gene in acute myeloid leukemia can occur through an insertion mechanism rather than translocation and may be mediated by genomic segmental duplications.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0066-7
- By:
- Publication type:
- Article
Karyotypic evolutions of cancer species in rats during the long latent periods after injection of nitrosourea.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 13, doi. 10.1186/s13039-014-0071-x
- By:
- Publication type:
- Article
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypes.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0064-9
- By:
- Publication type:
- Article
Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0074-7
- By:
- Publication type:
- Article
Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0073-8
- By:
- Publication type:
- Article
An unusual case of high hyperdiploid childhood ALL with cryptic BCR/ABL1 rearrangement.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0072-9
- By:
- Publication type:
- Article
Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1->qter in prenatal diagnosis: a case report.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0069-4
- By:
- Publication type:
- Article
A novel insertion ins(18;5)(q21.1;q31.2q35.1) in acute myeloid leukemia associated with microdeletions at 5q31.2, 5q35.1q35.2 and 18q12.3q21.1 detected by oligobased array comparative genomic hybridization.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0063-x
- By:
- Publication type:
- Article
Prenatal diagnosis of a de novo interstitial deletion of 11q (11q22.3 → q23.3) associated with abnormal ultrasound findings by array comparative genomic hybridization.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0062-y
- By:
- Publication type:
- Article
An adult B-cell precursor acute lymphoblastic leukemia with multiple secondary cytogenetic aberrations.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0060-0
- By:
- Publication type:
- Article
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6
- By:
- Publication type:
- Article
Meiotic prophase I defects in an oligospermic man with Wolf-Hirschhorn syndrome with ring chromosome 4.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-45
- By:
- Publication type:
- Article
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0057-8
- By:
- Publication type:
- Article
FISH molecular testing in cytological preparations from solid tumors.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0056-9
- By:
- Publication type:
- Article
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0055-x
- By:
- Publication type:
- Article
Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0054-y
- By:
- Publication type:
- Article
Smoking-induced chromosomal segregation anomalies identified by FISH analysis of sperm.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0058-7
- By:
- Publication type:
- Article
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 3, doi. 10.1186/1755-8166-7-44
- By:
- Publication type:
- Article
Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-43
- By:
- Publication type:
- Article
Blast crisis Ph+chronic myeloid leukemia with NUP98/HOXA13 up-regulating MSI2.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-42
- By:
- Publication type:
- Article
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-41
- By:
- Publication type:
- Article
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-40
- By:
- Publication type:
- Article
Identification of a balanced complex chromosomal rearrangement involving chromosomes 3, 18 and 21 with recurrent abortion: case report.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-39
- By:
- Publication type:
- Article
Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-38
- By:
- Publication type:
- Article
A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-37
- By:
- Publication type:
- Article
Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-36
- By:
- Publication type:
- Article
Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-35
- By:
- Publication type:
- Article
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-34
- By:
- Publication type:
- Article
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-33
- By:
- Publication type:
- Article
Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-32
- By:
- Publication type:
- Article
Constitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-31
- By:
- Publication type:
- Article