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.
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
3.
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Am J Med Genet A
; 185(8): 2526-2531, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34008900
4.
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
Hum Mutat
; 41(5): 983-997, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31957178
5.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Neurogenetics
; 20(3): 145-154, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31209758
6.
When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms.
Br J Haematol
; 203(4): 684-687, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37565283
7.
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
Am J Med Genet A
; 167A(1): 221-30, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339188
8.
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
BMC Med Genet
; 15: 52, 2014 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886451
9.
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Front Genet
; 15: 1358334, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544803
10.
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Eur J Hum Genet
; 30(11): 1233-1238, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821519
11.
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3'UTR of the MSH6 gene.
Cancer Genet
; 254-255: 1-10, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33516942
12.
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Front Neurol
; 11: 631, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32793091
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.
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Front Genet
; 10: 955, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749829
15.
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature.
Mol Cytogenet
; 11: 53, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250511
16.
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.
Mol Cytogenet
; 8: 20, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25838844
17.
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors.
Sci Rep
; 5: 15454, 2015 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26482194