Detalhe da pesquisa
1.
CATSHL syndrome, a new family and phenotypic expansion.
Clin Genet
; 105(3): 313-316, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990933
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.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Int J Mol Sci
; 23(11)2022 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35682590
5.
Human Chromosome 18 and Acrocentrics: A Dangerous Liaison.
Int J Mol Sci
; 22(11)2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34073228
6.
Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases.
Cytogenet Genome Res
; 160(2): 80-84, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32018271
7.
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
8.
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
9.
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.
Am J Med Genet A
; 170A(5): 1352-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864752
10.
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
11.
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
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 polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome.
Am J Obstet Gynecol
; 200(6): 636.e1-6, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19254790
15.
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
16.
Partial duplication of the PARK2 gene in a child with developmental delay and her normal mother: a second report.
Am J Med Genet B Neuropsychiatr Genet
; 162B(5): 485-6, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740672
17.
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.
Ital J Pediatr
; 44(1): 59, 2018 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801510
18.
Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases.
Mol Cytogenet
; 11: 52, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30202443
19.
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
20.
Lymph node hyperplasia: clonal chromosomal and genomic rearrangements. Report of two new cases and literature review.
Cancer Genet
; 207(1-2): 12-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24636528