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.
17p13.3 microdeletion including YWHAE and CRK genes: towards a clinical characterization.
Neurol Sci
; 41(8): 2259-2262, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323081
3.
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.
Hum Mutat
; 39(2): 302-314, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29098738
4.
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nat Genet
; 30(4): 436-40, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11889465
5.
FOXG1 is responsible for the congenital variant of Rett syndrome.
Am J Hum Genet
; 83(1): 89-93, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18571142
6.
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.
Genes (Basel)
; 12(9)2021 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573300
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.
Array comparative genomic hybridization in retinoma and retinoblastoma tissues.
Cancer Sci
; 100(3): 465-71, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19183342
9.
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
Nephrol Dial Transplant
; 24(5): 1464-71, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19129241
10.
Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
J Hum Genet
; 53(3): 285, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32041378
11.
Private inherited microdeletion/microduplications: implications in clinical practice.
Eur J Med Genet
; 51(5): 409-16, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18657637
12.
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.
Am J Med Genet A
; 146A(9): 1195-9, 2008 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18348270
13.
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
Am J Med Genet A
; 146A(15): 1994-8, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18627055
14.
Genomic differences between retinoma and retinoblastoma.
Acta Oncol
; 47(8): 1483-92, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18785023
15.
Italian Rett database and biobank.
Hum Mutat
; 28(4): 329-35, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17186495
16.
MECP2 deletions and genotype-phenotype correlation in Rett syndrome.
Am J Med Genet A
; 143A(23): 2775-84, 2007 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17968969
17.
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome.
Clin Chim Acta
; 384(1-2): 35-40, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17586481
18.
Rett syndrome: the complex nature of a monogenic disease.
J Mol Med (Berl)
; 81(6): 346-54, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12750821
19.
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.
Hum Mutat
; 24(2): 172-7, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15241799
20.
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
Eur J Hum Genet
; 12(8): 682-5, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15069458