Detalhe da pesquisa
1.
A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Pediatr Res
; 94(2): 683-690, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36759750
2.
Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation.
Kidney Blood Press Res
; 48(1): 568-577, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562365
3.
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics.
J Transl Med
; 20(1): 500, 2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329487
4.
Clinical characteristics of concurrent primary aldosteronism and renal artery stenosis: A retrospective case-control study.
Clin Exp Hypertens
; 43(1): 7-12, 2021 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32635757
5.
Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation.
Kidney Blood Press Res
; 45(4): 603-611, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32698182
6.
Truncated Epithelial Sodium Channel ß Subunit Responsible for Liddle Syndrome in a Chinese Family.
Kidney Blood Press Res
; 44(5): 942-949, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31437854
7.
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.
Clin Exp Hypertens
; 40(2): 107-111, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28718682
8.
Lack of association between polymorphisms in interleukin (IL)-12, IL-12R, IL-23, IL-23R genes and Takayasu arteritis in a Chinese population.
Inflamm Res
; 65(7): 543-50, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26987707
9.
A novel frameshift mutation of epithelial sodium channel ß-subunit leads to Liddle syndrome in an isolated case.
Clin Endocrinol (Oxf)
; 82(4): 611-4, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25378078
10.
Gypenosides protected the neural stem cells in the subventricular zone of neonatal rats that were prenatally exposed to ethanol.
Int J Mol Sci
; 15(12): 21967-79, 2014 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-25464383
11.
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Genes (Basel)
; 13(5)2022 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627249
12.
Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family.
Front Pediatr
; 10: 887214, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35685915
13.
Corrigendum: Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family.
Front Pediatr
; 10: 961964, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35844754
14.
Prognostic value of plasma big endothelin-1 in left ventricular non-compaction cardiomyopathy.
Heart
; 107(10): 836-841, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055147
15.
Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report.
Mol Med Rep
; 21(6): 2459-2465, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323820
16.
Overview of Monogenic Forms of Hypertension Combined With Hypokalemia.
Front Pediatr
; 8: 543309, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33569358
17.
Hypertension and Brachydactyly Syndrome Associated With Vertebral Artery Malformation Caused by a PDE3A Missense Mutation.
Am J Hypertens
; 33(2): 190-197, 2020 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549136
18.
Apparent mineralocorticoid excess caused by novel compound heterozygous mutations in HSD11B2 and characterized by early-onset hypertension and hypokalemia.
Endocrine
; 70(3): 607-615, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816205
19.
Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.
Am J Hypertens
; 33(7): 670-675, 2020 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32161960
20.
A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.
Am J Hypertens
; 32(8): 752-758, 2019 07 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977777