Detalhe da pesquisa
1.
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
Cytogenet Genome Res
; 158(3): 121-125, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31315107
2.
Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.
Cytogenet Genome Res
; 146(2): 115-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26278570
3.
Prolonged in vitro expansion partially affects phenotypic features and osteogenic potential of ovine amniotic fluid-derived mesenchymal stromal cells.
Cytotherapy
; 15(8): 930-50, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768926
4.
Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women.
Prenat Diagn
; 32(12): 1147-50, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23007955
5.
First case of two supernumerary markers derived from chromosome 5 and chromosome 8.
Mol Cytogenet
; 15(1): 26, 2022 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35761408
6.
Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview.
Diagnostics (Basel)
; 11(12)2021 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34943476
7.
Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.
J Med Case Rep
; 15(1): 208, 2021 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33883018
8.
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Mol Genet Genomic Med
; 8(1): e1056, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31851782
9.
Non-invasive prenatal screening: A 20-year experience in Italy.
Eur J Obstet Gynecol Reprod Biol X
; 3: 100050, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403132
10.
Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.
J Genet
; 97(1): 311-317, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29666350
11.
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.
Mol Syndromol
; 8(1): 42-44, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232782
12.
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.
PLoS One
; 12(12): e0189235, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29216282
13.
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.
Mol Genet Genomic Med
; 4(6): 634-640, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896286
14.
Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells.
Cell Transplant
; 23(12): 1501-15, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24480362
15.
Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.
Gene
; 504(1): 107-10, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22583828
16.
Indirect co-culture with tendons or tenocytes can program amniotic epithelial cells towards stepwise tenogenic differentiation.
PLoS One
; 7(2): e30974, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22348033
17.
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer.
Gene
; 498(2): 328-31, 2012 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22326525
18.
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
Pediatrics
; 129(1): e183-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22144704
19.
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus.
Eur J Med Genet
; 54(3): 333-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21354345
20.
De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.
Clin Dysmorphol
; 22(3): 132-134, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23722703