Detalhe da pesquisa
1.
Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region.
Int J Mol Sci
; 23(6)2022 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328767
2.
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
HGG Adv
; 5(2): 100261, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38160254
3.
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
4.
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
Eur J Med Genet
; 53(5): 325-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20621612
5.
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
Eur J Med Genet
; 52(4): 218-23, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19236961
6.
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
7.
Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases.
Am J Med Genet A
; 143A(18): 2200-3, 2007 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17702007