Detalhe da pesquisa
1.
A DNA damage response-like phenotype defines a third of colon cancers at onset.
FASEB J
; 37(7): e23020, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342943
2.
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
3.
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
4.
Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.
Int J Mol Sci
; 22(11)2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34073228
5.
Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases.
Int J Mol Sci
; 21(10)2020 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413994
6.
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Int J Mol Sci
; 20(5)2019 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836598
7.
Hodgkin lymphoma in a patient with mosaic trisomy 18: First clinical observation.
Am J Med Genet A
; 170(3): 777-80, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26701824
8.
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
9.
Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7.
Genes (Basel)
; 14(9)2023 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761840
10.
Possible Use of Minocycline in Adjunction to Intranasal Esketamine for the Management of Difficult to Treat Depression following Extensive Pharmacogenomic Testing: Two Case Reports.
J Pers Med
; 12(9)2022 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36143309
11.
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability.
Am J Med Genet A
; 155A(6): 1425-31, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21574245
12.
Cytogenetics of premature ovarian failure: an investigation on 269 affected women.
J Biomed Biotechnol
; 2011: 370195, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21318170
13.
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
14.
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome.
Clin Dysmorphol
; 17(1): 35-39, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18049079
15.
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.
Mol Cytogenet
; 11: 52, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30202443
16.
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Ital J Pediatr
; 44(Suppl 2): 128, 2018 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442200
17.
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Eur J Med Genet
; 61(3): 173-180, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29174090
18.
Endometrioid-like yolk sac and Sertoli-Leydig cell tumors in a carrier of a Y heterochromatin insertion into 1qh region: a causal association?
Cancer Genet Cytogenet
; 173(2): 164-9, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17321334
19.
19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update.
Neuropsychiatr Dis Treat
; 13: 2545-2550, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29042784
20.
14q32.3-qter trisomic segment: a case report and literature review.
Mol Cytogenet
; 9: 60, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499811