Detalhe da pesquisa
1.
Health-related quality of life among paediatric patients with coarctation of the aorta: an observational study.
Psychol Health Med
; : 1-10, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38695164
2.
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Clin Genet
; 104(5): 528-541, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455656
3.
The heart in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 440-451, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408797
4.
Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.
Am J Med Genet A
; 188(8): 2351-2359, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491976
5.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
6.
Health-related quality of life in Italian children and adolescents with congenital heart diseases.
BMC Cardiovasc Disord
; 22(1): 173, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35428190
7.
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Heart Fail Clin
; 18(1): 19-29, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776080
8.
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
Am J Med Genet A
; 185(7): 2003-2011, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811726
9.
Validity and reliability of the Italian version of the cardiac quality of life questionnaire for pediatric patients with heart disease (PedsQLTM).
BMC Cardiovasc Disord
; 21(1): 398, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407750
10.
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
11.
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
12.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Hum Mutat
; 39(10): 1428-1441, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007050
13.
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.
Am J Med Genet A
; 176(10): 2087-2098, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29663641
14.
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.
Heart Fail Clin
; 14(2): 225-235, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29525650
15.
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.
Am J Med Genet A
; 170(3): 665-9, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686981
16.
Paroxysmal atrioventricular block after heart transplantation in children: an early sign of rejection?
Pediatr Transplant
; 20(8): 1164-1167, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27743416
17.
Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome.
J Pediatr
; 218: 263-264, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843215
18.
Cardiopulmonary Exercise Testing after Surgical Repair of Tetralogy of Fallot-Does Modality Matter?
J Clin Med
; 13(5)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592039
19.
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Diagnostics (Basel)
; 14(6)2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535015
20.
Cardiopulmonary Exercise Testing in Children and Young Adolescents after a Multisystem Inflammatory Syndrome: Physical Deconditioning or Residual Pathology?
J Clin Med
; 12(6)2023 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36983374