Detalhe da pesquisa
1.
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Prenat Diagn
; 42(13): 1575-1586, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403097
2.
Cytogenetic follow-up of chromosomal mosaicism detected in first-trimester prenatal diagnosis.
Prenat Diagn
; 34(8): 739-47, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24633594
3.
Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
Mol Cytogenet
; 17(1): 8, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38589928
4.
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.
Am J Med Genet A
; 161A(10): 2559-63, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23922197
5.
Circulating mRNA for epidermal growth factor-like domain 7 (EGFL7) in maternal blood and early intrauterine growth restriction. A preliminary analysis.
Prenat Diagn
; 33(2): 168-72, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280513
6.
Third-Generation Cytogenetic Analysis: Diagnostic Application of Long-Read Sequencing.
J Mol Diagn
; 24(7): 711-718, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35526834
7.
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8.
Am J Med Genet A
; 155A(11): 2791-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21932320
8.
Intrahepatic Cholestasis of Pregnancy: mRNAs for LIPF and ELOVL4 Genes Are Not Detectable in Circulating Maternal Plasma.
Fetal Diagn Ther
; 38(3): 238-40, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25059952
9.
Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.
Eur J Med Genet
; 63(2): 103639, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858057
10.
Cell-Free DNA (cfDNA) Fetal Fraction in Early- and Late-Onset Fetal Growth Restriction.
Mol Diagn Ther
; 22(5): 613-619, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30056492
11.
The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing.
Case Rep Obstet Gynecol
; 2015: 813104, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26346617
12.
Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more.
J Matern Fetal Neonatal Med
; 28(6): 674-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24866349
13.
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
Eur J Hum Genet
; 17(11): 1439-47, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19417767