Detalhe da pesquisa
1.
Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.
Calcif Tissue Int
; 114(3): 210-221, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243143
2.
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
3.
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
4.
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
5.
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Heart Fail Clin
; 18(1): 155-164, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34776076
6.
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Genet Med
; 23(6): 1116-1124, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33568805
7.
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
8.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Hum Mutat
; 41(12): 2087-2093, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906221
9.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Am J Med Genet A
; 182(5): 1073-1083, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124548
10.
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Hum Mutat
; 40(8): 1046-1056, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31059601
11.
Lifestyle and awareness of cholesterol blood levels among 29159 community school children in Italy.
Nutr Metab Cardiovasc Dis
; 29(8): 802-807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31248716
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.
Cardiovascular disease in Down syndrome.
Curr Opin Pediatr
; 30(5): 616-622, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30015688
15.
Congenital superior caval vein aneurysm in a newborn with cystic lymphangioma: a rare case report.
Cardiol Young
; 28(8): 1067-1069, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30043721
16.
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
17.
Atrioventricular canal defect is the classic congenital heart disease in Bardet-Biedl syndrome.
Ann Hum Genet
; 85(3-4): 101-102, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33433911
18.
Long-term renal function in unilateral non-syndromic renal tumor survivors treated according to International Society of Pediatric Oncology protocols.
Pediatr Blood Cancer
; 62(9): 1637-44, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893525
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.
Gender differences in congenital heart defects: a narrative review.
Transl Pediatr
; 12(9): 1753-1764, 2023 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814719