Detalhe da pesquisa
1.
Low-Level Trisomy 14 Mosaicism: A Carrier of an Isochromosome 14 and a Supernumerary Marker Chromosome 14.
Cytogenet Genome Res
; 160(11-12): 664-670, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33202412
2.
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
J Hum Genet
; 65(9): 783-795, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32398760
3.
Unbalanced X;9 translocation in an infertile male with de novo duplication Xp22.31p22.33.
J Assist Reprod Genet
; 36(4): 769-775, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30675680
4.
Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
Clin Chem
; 62(6): 848-55, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27117469
5.
Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.
Birth Defects Res A Clin Mol Teratol
; 97(12): 774-80, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24288143
6.
Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP-qPCR methodology.
Prenat Diagn
; 33(7): 650-5, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23619923
7.
MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.
Prenat Diagn
; 32(10): 996-1001, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22833530
8.
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.
Am J Med Genet A
; 155A(10): 2426-35, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910223
9.
Human amniotic fluid stimulates the proliferation of human fetal and adult skin fibroblasts: the roles of bFGF and PDGF and of the ERK and Akt signaling pathways.
Wound Repair Regen
; 18(6): 643-54, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20946138
10.
Outcome of pregnancies with trisomy 2 cells in chorionic villi.
Prenat Diagn
; 30(4): 329-32, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20120006
11.
Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases.
Birth Defects Res A Clin Mol Teratol
; 85(10): 811-21, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19637253
12.
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.
Mol Cytogenet
; 12: 34, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31338126
13.
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Mol Cytogenet
; 12: 48, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31832098
14.
Comment on "technical concerns on the clinical validation of the NIFTY test".
Prenat Diagn
; 33(13): 1308-9, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23619941
15.
Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.
BMC Cancer
; 5: 40, 2005 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15833136
16.
A prenatally ascertained de novo terminal deletion of chromosomal bands 1q43q44 associated with multiple congenital abnormalities in a female fetus.
Case Rep Genet
; 2015: 517678, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25722899
17.
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.
Eur J Hum Genet
; 10(11): 694-8, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12404100
18.
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
Eur J Hum Genet
; 22(3): 338-43, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23860044
19.
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Biomed Res Int
; 2013: 346762, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23555083
20.
A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR.
Expert Opin Biol Ther
; 12 Suppl 1: S155-61, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22500647