Detalhe da pesquisa
1.
Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Am J Med Genet A
; 182(1): 64-70, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31729175
2.
Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.
Am J Med Genet A
; 182(6): 1342-1350, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319738
3.
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
Am J Med Genet A
; 179(1): 104-112, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565850
4.
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Am J Med Genet A
; 179(8): 1615-1621, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145527
5.
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Am J Med Genet A
; 179(10): 2083-2090, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368652
6.
Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway.
Nucleic Acids Res
; 44(2): 705-17, 2016 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-26503245
7.
Remember Friedreich ataxia even in a toddler with apparently isolated dilated (not hypertrophic!) cardiomyopathy. Revisited.
Minerva Pediatr (Torino)
; 75(1): 117-123, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820410
8.
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
Genes (Basel)
; 14(1)2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672887
9.
Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?
J Cardiovasc Dev Dis
; 9(2)2022 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35200700
10.
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review.
J Cardiovasc Dev Dis
; 8(11)2021 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821712