Detalhe da pesquisa
1.
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosis.
Hum Mol Genet
; 32(7): 1223-1235, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440963
2.
Pulmonary vascular phenotype identified in patients with GDF2 (BMP9) or BMP10 variants: an international multicentre study.
Eur Respir J
; 63(4)2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514094
3.
Long-term reliability of the phospholamban (PLN) p.(Arg14del) risk model in predicting major ventricular arrhythmia: a landmark study.
Europace
; 26(4)2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558121
4.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
J Med Genet
; 60(4): 317-326, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849229
5.
Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction.
Circulation
; 145(8): 606-619, 2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35113653
6.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Genet Med
; 25(11): 100925, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422716
7.
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.
J Hum Genet
; 68(4): 273-279, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36599954
8.
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype-phenotype relationships.
Am J Med Genet A
; 191(2): 479-489, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380655
9.
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Neth Heart J
; 31(7-8): 315-323, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37505369
10.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Neth Heart J
; 31(7-8): 300-307, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37488328
11.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 24(10): 2112-2122, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36053285
12.
Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice.
BMC Pulm Med
; 22(1): 325, 2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36028846
13.
Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.
Eur Heart J
; 42(29): 2842-2850, 2021 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113975
14.
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.
Am J Respir Crit Care Med
; 201(5): 575-585, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31661308
15.
No evidence for increased prevalence of colorectal carcinoma in 399 Dutch patients with Birt-Hogg-Dubé syndrome.
Br J Cancer
; 122(4): 590-594, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857718
16.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Clin Genet
; 97(5): 723-730, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898322
17.
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
Genet Med
; 26(2): 101024, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38085215
18.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Hum Mutat
; 39(9): 1173-1192, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907982
19.
Correspondence on "Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population" by Savatt et al.
Genet Med
; 25(1): 158-160, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383210
20.
Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle.
Circulation
; 133(18): 1747-60, 2016 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26984938