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1.
Disruption of GCN2 Pathway Aggravates Vascular and Parenchymal Remodeling during Pulmonary Fibrosis.
Am J Respir Cell Mol Biol
; 68(3): 326-338, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36476191
2.
T-cell dysregulation and inflammatory process in Gcn2 (Eif2ak4-/-)-deficient rats in basal and stress conditions.
Am J Physiol Lung Cell Mol Physiol
; 324(5): L609-L624, 2023 05 01.
Article
in English
| MEDLINE | ID: mdl-36852942
3.
Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.
Eur Respir J
; 61(2)2023 02.
Article
in English
| MEDLINE | ID: mdl-36302552
4.
An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants.
Eur Respir J
; 60(6)2022 12.
Article
in English
| MEDLINE | ID: mdl-35618278
5.
Mendelian randomisation and experimental medicine approaches to interleukin-6 as a drug target in pulmonary arterial hypertension.
Eur Respir J
; 59(3)2022 03.
Article
in English
| MEDLINE | ID: mdl-34588193
6.
RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports.
J Med Genet
; 58(9): 645-647, 2021 09.
Article
in English
| MEDLINE | ID: mdl-32900839
7.
Single-Cell Study of Two Rat Models of Pulmonary Arterial Hypertension Reveals Connections to Human Pathobiology and Drug Repositioning.
Am J Respir Crit Care Med
; 203(8): 1006-1022, 2021 04 15.
Article
in English
| MEDLINE | ID: mdl-33021809
8.
Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation.
Breast Cancer Res
; 23(1): 79, 2021 08 03.
Article
in English
| MEDLINE | ID: mdl-34344426
9.
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Eur Respir J
; 58(1)2021 07.
Article
in English
| MEDLINE | ID: mdl-33380512
10.
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.
Article
in English
| MEDLINE | ID: mdl-31661308
11.
Comparison of Human and Experimental Pulmonary Veno-Occlusive Disease.
Am J Respir Cell Mol Biol
; 63(1): 118-131, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32209028
12.
Familial pulmonary arterial hypertension by KDR heterozygous loss of function.
Eur Respir J
; 55(4)2020 04.
Article
in English
| MEDLINE | ID: mdl-31980491
13.
Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation.
Eur Respir J
; 55(5)2020 05.
Article
in English
| MEDLINE | ID: mdl-32079640
14.
Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension.
Eur Respir J
; 55(2)2020 02.
Article
in English
| MEDLINE | ID: mdl-31744833
15.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Int J Cancer
; 144(8): 1962-1974, 2019 04 15.
Article
in English
| MEDLINE | ID: mdl-30303537
16.
Genetics and genomics of pulmonary arterial hypertension.
Eur Respir J
; 53(1)2019 01.
Article
in English
| MEDLINE | ID: mdl-30545973
17.
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.
Eur Respir J
; 53(3)2019 03.
Article
in English
| MEDLINE | ID: mdl-30578383
18.
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Gastric Cancer
; 22(4): 899-903, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30515673
19.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Circulation
; 136(21): 2022-2033, 2017 11 21.
Article
in English
| MEDLINE | ID: mdl-28972005
20.
Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
Ann Neurol
; 82(6): 972-980, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29171923