36 results on '"Palka, Chiara"'
Search Results
2. Case report of newborn with de novo partial trisomy 2q31.2–37.3 and monosomy 9p24.3
3. Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview
4. Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay
5. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
6. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
7. Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women: P2-70
8. Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women
9. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
10. Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome
11. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
12. RETICULATE VASCULAR LESIONS AND A LARGE HEAD
13. Cystic hygroma and mid-trimester maternal serum screening
14. Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly
15. Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
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. An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations
19. 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
20. 16p13.3 microduplication syndrome: A new characteristic case without intellectual disability
21. Case report of newborn with <bold><italic>de novo</italic></bold> partial trisomy 2q31.2-37.3 and monosomy 9p24.3.
22. Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures
23. Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus
24. Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
25. De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects
26. A new case of mosaicism for invdup(15) duplicated for Prader–Willi/Angelman syndrome critical region (PWACR) in an adult healthy man
27. Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH
28. Mosaic 7q31 Deletion Involving FOXP2 Gene Associated With Language Impairment
29. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
30. Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay
31. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
32. An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.
33. A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome
34. De novo9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects
35. Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
36. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
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