Detalhe da pesquisa
1.
Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature.
Horm Metab Res
; 52(11): 796-802, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32629514
2.
Cushing's disease in a patient with steroid 21-hydroxylase deficiency.
Endocr J
; 58(8): 699-706, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21646730
3.
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
J Mol Diagn
; 11(2): 131-9, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19196998
4.
Czech dysplasia: report of a large family and further delineation of the phenotype.
Am J Med Genet A
; 146A(14): 1859-64, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18553548
5.
A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita.
Endocrinol Diabetes Metab Case Rep
; 20172017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28924487
6.
A patient with novel mutations causing MEN1 and hereditary multiple osteochondroma.
Endocrinol Diabetes Metab Case Rep
; 20152015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26515642
7.
Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
Gene
; 526(2): 474-7, 2013 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23732293
8.
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature.
Clin Dysmorphol
; 19(3): 123-127, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20305547
9.
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
J Clin Endocrinol Metab
; 95(2): 779-88, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20089618
10.
Novel SDHD gene mutation (H102R) in a patient with metastatic cervical paraganglioma effectively treated by peptide receptor radionuclide therapy.
J Clin Oncol
; 29(33): e812-5, 2011 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22025150