Detalhe da pesquisa
1.
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Br J Haematol
; 184(4): 657-659, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460960
2.
Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
Epilepsia
; 53(7): 1146-55, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22578097
3.
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
4.
Private inherited microdeletion/microduplications: implications in clinical practice.
Eur J Med Genet
; 51(5): 409-16, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18657637
5.
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
6.
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
7.
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association.
Clin Dysmorphol
; 17(1): 13-17, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18049074
8.
Italian Rett database and biobank.
Hum Mutat
; 28(4): 329-35, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17186495
9.
7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.
Eur J Med Genet
; 58(11): 578-83, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26297194
10.
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Eur J Med Genet
; 55(2): 124-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22210230
11.
Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature.
Gene
; 502(1): 40-5, 2012 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22537675
12.
Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature.
Eur J Med Genet
; 54(1): 55-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20969981
13.
A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.
Eur J Med Genet
; 53(5): 325-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20621612
14.
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.
Am J Med Genet A
; 143A(8): 858-65, 2007 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17352388
15.
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
Nephrol Dial Transplant
; 21(3): 665-71, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16338941
16.
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.
Hum Mol Genet
; 14(14): 1935-46, 2005 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15917271
17.
Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
Kidney Int
; 65(5): 1598-603, 2004 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15086897