Works matching IS 17558166 AND DT 2012 AND VI 5 AND IP 1
Results: 46
Incidence and patterns of ALK FISH abnormalities seen in a large unselected series of lung carcinomas.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 1, doi. 10.1186/1755-8166-5-44
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- Article
Prolonged exposure to acid and bile induces chromosome abnormalities that precede malignant transformation of benign Barrett's epithelium.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 1, doi. 10.1186/1755-8166-5-43
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- Article
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 46, doi. 10.1186/1755-8166-5-46
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- Article
Chromosome mapping of repetitive sequences in Anostomidae species: implications for genomic and sex chromosome evolution.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 45, doi. 10.1186/1755-8166-5-45
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- Article
Correction: The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 42, doi. 10.1186/1755-8166-5-42
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- Article
Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 41, doi. 10.1186/1755-8166-5-41
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- Article
Activation of the two microRNA clusters C19MC and miR-371-3 does not play prominent role in thyroid cancer.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 40, doi. 10.1186/1755-8166-5-40
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- Article
Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genes.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 39, doi. 10.1186/1755-8166-5-39
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- Article
Chromosome abnormalities in Indonesian patients with short stature.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 35, doi. 10.1186/1755-8166-5-35
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- Article
Cytomolecular characterization of de novo formed rye B chromosome variants.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 34, doi. 10.1186/1755-8166-5-34
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- Article
Characterization of telomeric repeats in metaphase chromosomes and interphase nuclei of Syrian Hamster Fibroblasts.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 37, doi. 10.1186/1755-8166-5-37
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- Article
Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 33, doi. 10.1186/1755-8166-5-33
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- Article
Neocentric X-chromosome in a girl with Turner-like syndrome.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 29, doi. 10.1186/1755-8166-5-29
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- Article
Molecular cytogenetic characterization of undifferentiated embryonal sarcoma of the liver: a case report and literature review.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 26, doi. 10.1186/1755-8166-5-26
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- Publication type:
- Article
BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 23, doi. 10.1186/1755-8166-5-23
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- Article
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 38, doi. 10.1186/1755-8166-5-38
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- Article
A novel dic (17;18) (p13.1;q11.2) with loss of TP53 and BCR/ABL rearrangement in an Imatinib resistant chronic myeloid leukemia.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 36, doi. 10.1186/1755-8166-5-36
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- Article
Investigating the role of X chromosome breakpoints in premature ovarian failure.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 32, doi. 10.1186/1755-8166-5-32
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- Publication type:
- Article
The key role of repeated DNAs in sex chromosome evolution in two fish species with ZW sex chromosome system.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 28, doi. 10.1186/1755-8166-5-28
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- Publication type:
- Article
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 25, doi. 10.1186/1755-8166-5-25
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- Publication type:
- Article
A novel unbalanced de novo translocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 21, doi. 10.1186/1755-8166-5-21
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- Publication type:
- Article
Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 31, doi. 10.1186/1755-8166-5-31
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- Publication type:
- Article
Analysis of ZAP70 expression in adult acute lymphoblastic leukaemia by real time quantitative PCR.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 22, doi. 10.1186/1755-8166-5-22
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- Article
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report.
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- 2012
- Publication type:
- Case Study
Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 24, doi. 10.1186/1755-8166-5-24
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- Article
A novel five-way translocation t(7;11;9;22;9)(q22; q13;q34;q11.2;q34) involving Ph chromosome in a patient of chronic myeloid leukemia: a case report.
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- 2012
- Publication type:
- Case Study
Exosome-delivered microRNAs of "chromosome 19 microRNA cluster" as immunomodulators in pregnancy and tumorigenesis.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 27, doi. 10.1186/1755-8166-5-27
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- Article
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 19, doi. 10.1186/1755-8166-5-19
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- Article
Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?
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- 2012
- Publication type:
- Case Study
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 17, doi. 10.1186/1755-8166-5-17
- Publication type:
- Article
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 16, doi. 10.1186/1755-8166-5-16
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- Article
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 14, doi. 10.1186/1755-8166-5-14
- Publication type:
- Article
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.
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- 2012
- Publication type:
- Case Study
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene.
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- 2012
- Publication type:
- Case Study
Centromeric association of small supernumerary marker chromosomes with their sisterchromosomes detected by three dimensional molecular cytogenetics.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 15, doi. 10.1186/1755-8166-5-15
- Publication type:
- Article
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.
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- 2012
- Publication type:
- Case Study
High rates of de novo 15q11q13 inversions in human spermatozoa.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 11, doi. 10.1186/1755-8166-5-11
- Publication type:
- Article
CGH and SNP array using DNA extracted from fixed cytogenetic preparations and long-term refrigerated bone marrow specimens.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 10, doi. 10.1186/1755-8166-5-10
- Publication type:
- Article
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.
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- 2012
- Publication type:
- Case Study
Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 7, doi. 10.1186/1755-8166-5-7
- Publication type:
- Article
A recurrent translocation is mediated by homologous recombination between HERV-H elements.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 6, doi. 10.1186/1755-8166-5-6
- Publication type:
- Article
Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 3, doi. 10.1186/1755-8166-5-3
- Publication type:
- Article
"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 9, doi. 10.1186/1755-8166-5-9
- Publication type:
- Article
"Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.
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- Molecular Cytogenetics (17558166), 2012, v. 5, n. 1, p. 4, doi. 10.1186/1755-8166-5-4
- Publication type:
- Article
Isochromosome 13 in a patient with childhoodonset schizophrenia, ADHD, and motor tic disorder.
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- 2012
- Publication type:
- Case Study
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.
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- 2012
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- Publication type:
- Case Study