Detalhe da pesquisa
1.
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.
Genet Med
; 21(7): 1568-1575, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30474650
2.
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
J Am Soc Nephrol
; 28(8): 2540-2552, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28381550
3.
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.
Hum Mol Genet
; 23(9): 2440-6, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334767
4.
Validation of a liquid chromatography coupled to tandem mass spectrometry method for simultaneous quantification of tryptophan and 10 key metabolites of the kynurenine pathway in plasma and urine: Application to a cohort of acute kidney injury patients.
Clin Chim Acta
; 534: 115-127, 2022 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870540
5.
The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.
J Clin Endocrinol Metab
; 101(12): 4764-4768, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27680874
6.
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
J Clin Endocrinol Metab
; 101(5): 2185-95, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26963950
7.
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
J Clin Endocrinol Metab
; 99(2): E369-73, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24276449
8.
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Nat Genet
; 44(4): 456-60, S1-3, 2012 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22406640
9.
The functional c.-2G>C variant of the mineralocorticoid receptor modulates blood pressure, renin, and aldosterone levels.
Hypertension
; 56(5): 995-1002, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20855654
10.
Adenine, a hairpin ribozyme cofactor--high-pressure and competition studies.
FEBS J
; 276(9): 2574-88, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19476496