Detalhe da pesquisa
1.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090057
2.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244530
3.
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype.
Cytogenet Genome Res
; 153(1): 22-28, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29141250
4.
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Am J Med Genet A
; 173(1): 231-238, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683195
5.
Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy.
Biochim Biophys Acta
; 1832(3): 411-20, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261988
6.
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Cell Death Dis
; 13(11): 981, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411275
7.
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
8.
Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia.
Mol Clin Oncol
; 8(3): 463-465, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29468060
9.
Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7.
Stem Cell Res
; 32: 73-77, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30218896
10.
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
11.
Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.
Parkinsons Dis
; 2015: 546462, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26635992
12.
De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver.
Ital J Pediatr
; 40: 5, 2014 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24433316
13.
Transabdominal coelocentesis as early source of fetal DNA for chromosomal and molecular diagnosis.
J Matern Fetal Neonatal Med
; 27(16): 1656-60, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24298912
14.
De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.
Eur J Med Genet
; 54(3): 329-32, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21333764
15.
Now you can! Reality & Future Applications of array CGH in prenatal diagnosis.
J Prenat Med
; 3(2): 23-4, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22439036