Detalhe da pesquisa
1.
Massive pericardial effusion in an infant with Aymé-Gripp syndrome: A case report and review of the literature.
Am J Med Genet A
; : e63586, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38709155
2.
Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.
Am J Med Genet A
; 191(4): 1111-1118, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36607831
3.
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.
Am J Med Genet A
; 188(3): 883-895, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897976
4.
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Am J Med Genet A
; 185(4): 1204-1210, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442900
5.
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
6.
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
Am J Med Genet A
; 179(8): 1570-1574, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31111652
7.
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
BMC Med Genet
; 19(1): 170, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30219046
8.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Am J Med Genet A
; 176(11): 2501-2508, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244530
9.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
10.
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy.
J Neurogenet
; 29(4): 178-82, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26559560
11.
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.
Acta Derm Venereol
; 99(9): 831-832, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073624
12.
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
Mov Disord
; 28(6): 787-94, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23677909
13.
Prenatal CFAP53-related laterality defect: case report and review of the literature.
J Matern Fetal Neonatal Med
; 36(1): 2201653, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041101
14.
Novel Variant in the USP9X Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review.
Mol Syndromol
; 14(2): 158-163, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37064340
15.
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.
Front Cardiovasc Med
; 10: 1210378, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37576110
16.
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun
; 14(1): 2026, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041148
17.
ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression.
Haematologica
; 97(1): 47-55, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21993670
18.
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience.
Int J Cardiol
; 350: 83-89, 2022 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34998950
19.
A patient with mosaic USP9X gene variant.
Eur J Med Genet
; 65(12): 104638, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36216272
20.
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.
J Cardiovasc Dev Dis
; 9(10)2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36286284