Works matching IS 17558166 AND DT 2010 AND VI 3
Results: 24
Clinical application of whole-genome array CGHduring prenatal diagnosis: Study of 25 selectedpregnancies with abnormal ultrasound findingsor apparently balanced structural aberrations.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 24, doi. 10.1186/1755-8166-3-24
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- Article
Assessing karyotype precision by microarraybasedcomparative genomic hybridization in themyelodysplastic/myeloproliferative syndromes.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 23, doi. 10.1186/1755-8166-3-23
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- Article
The use of array-CGH in a cohort of Greek children with developmental delay.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 22, doi. 10.1186/1755-8166-3-22
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- Article
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patientswith Williams-Beuren syndrome as compared to a population control.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 21, doi. 10.1186/1755-8166-3-21
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- Article
Comparison of mitotic cell death by chromosome fragmentation to premature chromosome condensation.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 20, doi. 10.1186/1755-8166-3-20
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- Article
MLPA for confirmation of array CGH results and determination of inheritance.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 19, doi. 10.1186/1755-8166-3-19
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- Article
Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 18, doi. 10.1186/1755-8166-3-18
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- Article
Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 17, doi. 10.1186/1755-8166-3-17
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- Article
Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novodel(21)(q22) characterised by molecular karyotyping: Case report.
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- 2010
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- Publication type:
- Case Study
Genomic amplification of BCR/ABL1 and a region downstream of ABL1 in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 15, doi. 10.1186/1755-8166-3-15
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- Article
X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 14, doi. 10.1186/1755-8166-3-14
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- Article
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with patient congenital anomalies.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 13, doi. 10.1186/1755-8166-3-13
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- Article
Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report.
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- 2010
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- Publication type:
- Case Study
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CHG.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 11, doi. 10.1186/1755-8166-3-11
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- Article
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 10, doi. 10.1186/1755-8166-3-10
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- Article
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 9, doi. 10.1186/1755-8166-3-9
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- Article
Cytogenetic contribution to uniparental disomy(UPD).
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 8, doi. 10.1186/1755-8166-3-8
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- Article
Germ-line transmission of trisomy 21: Data from80 families suggest an implication ofgrandmaternal age and a high frequency offemale-specific trisomy rescue.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 7, doi. 10.1186/1755-8166-3-7
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- Article
A rare case of chronic myeloid leukemia withsecondary chromosomal changes includingpartial trisomy 17q21 to 17qter and partialmonosomy of 16p13.3.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 6, doi. 10.1186/1755-8166-3-6
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- Article
Two siblings with immunodeficiency, facialabnormalities and chromosomal instabilitywithout mutation in DNMT3B gene but liabilitytowards malignancy; a new chromatin disorderdelineation?
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 5, doi. 10.1186/1755-8166-3-5
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- Article
On the paternal origin of trisomy 21 Downsyndrome.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 4, doi. 10.1186/1755-8166-3-4
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- Article
8p23.1 duplication syndrome differentiated fromcopy number variation of the defensin cluster atprenatal diagnosis in four new families.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 3, doi. 10.1186/1755-8166-3-3
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- Article
Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 1, doi. 10.1186/1755-8166-3-2
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- Article
Human interphase chromosomes: a review of available molecular cytogenetic technologies.
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 1, doi. 10.1186/1755-8166-3-1
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- Article