39 results on '"Morizio, Elisena"'
Search Results
2. Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report
3. Non-invasive prenatal screening: A 20-year experience in Italy
4. Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview
5. Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy
6. Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay
7. Discovering a familial Xp11.4 microduplication: Does the mother matter?
8. Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women
9. Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis
10. A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11
11. Molecular studies in three patients with isodicentric Y chromosome
12. Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly
13. Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB)
14. Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
15. Isolation of osteogenic progenitors from human amniotic fluid using a single step culture protocol
16. Discovering a familial Xp11.4 microduplication: Does the mother matter?
17. Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis
18. Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women
19. 16p13.3 microduplication syndrome: A new characteristic case without intellectual disability
20. A case of triploidy detected by crosstrimester test
21. Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus
22. De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects
23. A new case of mosaicism for invdup(15) duplicated for Prader–Willi/Angelman syndrome critical region (PWACR) in an adult healthy man
24. Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment
25. Isolation of osteogenic progenitors from human amniotic fluid using a single step culture protocol
26. Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay
27. P65: Complete imatinib-induced CML remission as evidenced by FISH predicts good outcome but it is not achieved in patients with der(9) deletion within 18-month follow up
28. Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene
29. Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis
30. C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy
31. Genomic Organization, Physical Mapping, and Involvement in Yq Microdeletions of the VCY2 (BPY 2) Gene
32. p53 loss and point mutations are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis
33. Retrospective investigation of hematopoietic chimerism after BMT by PCR amplification of hypervariable DNA regions
34. Complex translocations of the Ph chromosome and Ph negative CML arise from similar mechanisms, as evidenced by FISH analysis
35. Assignment of the β-Arrestin 1 Gene (ARRB1) to Human Chromosome 11q13
36. Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.
37. De novo9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects
38. A case of triploidy detected by crosstrimester test.
39. A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.
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