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.
Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells.
J Cell Physiol
; 233(2): 1736-1751, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681917
3.
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Haematologica
; 99(6): 1022-31, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24584348
4.
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
Am J Med Genet A
; 158A(6): 1427-33, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581785
5.
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication.
Am J Med Genet A
; 155A(12): 3054-9, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22002912
6.
Children and adults affected by Cri du Chat syndrome: Care's recommendations.
Pediatr Rep
; 11(1): 7839, 2019 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838120
7.
Brachydactyly type E in an Italian family with 6p25 trisomy.
Eur J Med Genet
; 60(3): 195-199, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28111183
8.
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
Ital J Pediatr
; 43(1): 61, 2017 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724436
9.
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother.
Am J Med Genet A
; 155A(1): 221-4, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204236
10.
Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features.
Am J Med Genet A
; 152A(2): 486-9, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101695
11.
Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.
Congenit Anom (Kyoto)
; 55(2): 107-11, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174267
12.
10qter deletion: a new case.
Am J Med Genet A
; 146A(18): 2435-8, 2008 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18698621
13.
Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations.
Eur J Hum Genet
; 15(5): 525-7, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17356549
14.
Characterization of a complex rearrangement involving chromosomes 1, 4 and 8 by FISH and array-CGH.
J Appl Genet
; 53(3): 285-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22544656
15.
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation.
Eur J Med Genet
; 55(4): 238-44, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22406401
16.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Arch Neurol
; 69(3): 322-30, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22083797
17.
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay.
J Appl Genet
; 52(3): 335-9, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21369844
18.
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.
J Genet
; 90(3): 473-7, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22227935
19.
Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
Am J Med Genet A
; 140(18): 1944-9, 2006 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16906558
20.
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.
Genet Med
; 7(9): 620-5, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16301863