Detalhe da pesquisa
1.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Genet Med
; 25(11): 100925, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37422716
2.
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
J Med Genet
; 59(9): 906-911, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34493544
3.
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
Inglês
| MEDLINE | ID: mdl-31661308
4.
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Hum Mutat
; 36(12): 1113-27, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26387786
5.
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Nat Genet
; 38(11): 1242-4, 2006 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17013395
6.
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Am J Hum Genet
; 88(5): 574-85, 2011 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-21565291
7.
Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.
Hum Mutat
; 32(2): 231-9, 2011 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21280149
8.
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
Hum Mutat
; 32(12): 1385-9, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21898662
9.
Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension.
Circulation
; 122(9): 920-7, 2010 Aug 31.
Artigo
Inglês
| MEDLINE | ID: mdl-20713898
10.
Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era.
Genes (Basel)
; 12(11)2021 11 16.
Artigo
Inglês
| MEDLINE | ID: mdl-34828405
11.
Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia.
Circulation
; 119(13): 1747-57, 2009 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-19307479
12.
Molecular genetic framework underlying pulmonary arterial hypertension.
Nat Rev Cardiol
; 17(2): 85-95, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31406341
13.
Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension.
Genes (Basel)
; 11(11)2020 11 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33187088
14.
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension.
Circ Genom Precis Med
; 2020 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33320693
15.
Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation.
Am J Respir Crit Care Med
; 188(2): 258-60, 2013 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23855704
16.
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Nat Commun
; 9(1): 1416, 2018 04 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29650961
17.
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Hum Mutat
; 27(2): 121-32, 2006 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16429395
18.
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.
Circulation
; 111(5): 607-13, 2005 Feb 08.
Artigo
Inglês
| MEDLINE | ID: mdl-15699281
19.
Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension.
Nat Med
; 21(7): 777-85, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26076038
20.
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circ Cardiovasc Genet
; 8(4): 572-581, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25963545