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.
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.
BMC Med Genet
; 15: 87, 2014 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25056248
4.
Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women.
Prenat Diagn
; 31(11): 1077-81, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21800336
5.
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
6.
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
7.
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
8.
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.
Eur J Med Genet
; 51(3): 239-44, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18378203
9.
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
Am J Med Genet A
; 146A(2): 238-44, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18080328
10.
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
Asian J Androl
; 10(4): 687-91, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18097502
11.
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
12.
Cystic hygroma and mid-trimester maternal serum screening.
J Med Screen
; 14(3): 109-12, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17925081
13.
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
14.
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
15.
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
16.
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
Eur J Hum Genet
; 13(8): 959-64, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15870824
17.
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.
Mutat Res
; 547(1-2): 49-53, 2004 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-15013698
18.
Reticulate vascular lesions and a large head.
Pediatr Dermatol
; 24(5): 555-6, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17958809
19.
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
Pediatrics
; 129(1): e183-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22144704
20.
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