Detalhe da pesquisa
1.
The development of inherited cardiac conditions services: current position and future perspectives.
Br Med Bull
; 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400770
2.
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Hum Mol Genet
; 26(3): 519-526, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053047
3.
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Genet Med
; 21(7): 1576-1584, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531895
4.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
5.
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Am J Med Genet C Semin Med Genet
; 175(1): 40-47, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306228
6.
The 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
; 175(1): 8-26, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28306229
7.
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Europace
; 18(6): 888-96, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26498160
8.
Best practice recommendations for medically assisted reproduction in patients with known cardiovascular disease or at high risk of cardiovascular disease.
Hum Fertil (Camb)
; 27(1): 2278295, 2024 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196173
9.
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Eur J Med Genet
; 66(4): 104714, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724812
10.
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).
Eur J Med Genet
; 65(9): 104557, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779834
11.
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
JAMA Cardiol
; 7(4): 371-377, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35138330
12.
eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN).
Orphanet J Rare Dis
; 16(1): 164, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33832526
13.
Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.
Expert Rev Cardiovasc Ther
; 17(12): 883-915, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31829751
14.
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
Orphanet J Rare Dis
; 14(1): 264, 2019 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31752940
15.
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.
J Am Coll Cardiol
; 72(6): 605-615, 2018 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30071989
16.
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nat Genet
; 48(9): 1060-5, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27479907
17.
SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.
Neuromuscul Disord
; 25(7): 585-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25958341