Found: 25
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Prenatal molecular diagnosis in RASA1-related disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Molecular function and contribution of TBX4 in development and disease.
- Published in:
- 2023
- By:
- Publication type:
- Chart/Diagram/Graph
Molecular Function and Contribution of in Development and Disease.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 7, p. 855, doi. 10.1164/rccm.202206-1039TR
- By:
- Publication type:
- Article
First Genotype--Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2022, v. 206, n. 12, p. 1522, doi. 10.1164/rccm.202203-0485OC
- By:
- Publication type:
- Article
Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
- Published in:
- Pediatric Pulmonology, 2017, v. 52, n. 5, p. 642, doi. 10.1002/ppul.23649
- By:
- Publication type:
- Article
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 65, doi. 10.1038/ng.2844
- By:
- Publication type:
- Article
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 518, doi. 10.1038/ng.2581
- By:
- Publication type:
- Article
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
- Published in:
- Gastric Cancer, 2019, v. 22, n. 4, p. 899, doi. 10.1007/s10120-018-00907-7
- By:
- Publication type:
- Article
A CELSR1 variant in a patient with pulmonary arterial hypertension.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 6, p. 771, doi. 10.1111/cge.14046
- By:
- Publication type:
- Article
Parkes‐Weber syndrome related to RASA1 mosaic mutation.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 330, doi. 10.1111/cge.13860
- By:
- Publication type:
- Article
Absence of influence of gender and BMPR2mutation type on clinical phenotypes ofpulmonary arterial hypertension.
- Published in:
- Respiratory Research, 2010, v. 11, p. 73, doi. 10.1186/1465-9921-11-73
- By:
- Publication type:
- Article
Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.
- Published in:
- Familial Cancer, 2013, v. 12, n. 1, p. 27, doi. 10.1007/s10689-012-9568-9
- By:
- Publication type:
- Article
Role of KCNK3 Dysfunction in Dasatinib-associated Pulmonary Arterial Hypertension and Endothelial Cell Dysfunction.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2024, v. 71, n. 1, p. 95, doi. 10.1165/rcmb.2023-0185OC
- By:
- Publication type:
- Article
Pulmonary Veno-Occlusive Disease and Pulmonary Fibrosis in a Family with EIF2AK4 Pathogenic Variants.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2024, v. 70, n. 2, p. E1, doi. 10.1165/rcmb.2023-0166le
- By:
- Publication type:
- Article
Pulmonary Veno-Occlusive Disease and Pulmonary Fibrosis in a Family with EIF2AK4 Pathogenic Variants.
- Published in:
- American Journal of Respiratory Cell & Molecular Biology, 2024, v. 70, n. 2, p. 143, doi. 10.1165/rcmb.2023-0166le
- By:
- Publication type:
- Article
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00378-5
- By:
- Publication type:
- Article
Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.
- Published in:
- European Journal of Clinical Investigation, 2013, v. 43, n. 10, p. 1016, doi. 10.1111/eci.12138
- By:
- Publication type:
- Article
Small platelet microparticle levels are increased in pulmonary arterial hypertension.
- Published in:
- European Journal of Clinical Investigation, 2013, v. 43, n. 1, p. 64, doi. 10.1111/eci.12018
- By:
- Publication type:
- Article
Physiological and pathophysiological roles of the KCNK3 potassium channel in the pulmonary circulation and the heart.
- Published in:
- Journal of Physiology, 2023, v. 601, n. 17, p. 3717, doi. 10.1113/JP284936
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- Publication type:
- Article
Higher prevalence of splenic artery aneurysms in hereditary hemorrhagic telangiectasia: Vascular implications and risk factors.
- Published in:
- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0226681
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- Publication type:
- Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
- By:
- Publication type:
- Article
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Outcomes and risk assessment in pulmonary veno-occlusive disease.
- Published in:
- ERJ Open Research, 2024, v. 10, n. 1, p. 1, doi. 10.1183/23120541.00612-2023
- By:
- Publication type:
- Article
Soft tissue angiomatosis: another PIK3CA‐related disorder.
- Published in:
- Histopathology, 2020, v. 76, n. 4, p. 540, doi. 10.1111/his.14021
- By:
- Publication type:
- Article