Detalhe da pesquisa
1.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol
; 145(5): 1452-1463, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31887391
2.
Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.
Medicina (Kaunas)
; 57(3)2021 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669123
3.
Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.
Medicina (Kaunas)
; 56(12)2020 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33333891
4.
MD-Logic overnight type 1 diabetes control in home settings: A multicentre, multinational, single blind randomized trial.
Diabetes Obes Metab
; 19(4): 553-561, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27981804
5.
An ancient founder mutation in PROKR2 impairs human reproduction.
Hum Mol Genet
; 21(19): 4314-24, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22773735
6.
Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia.
Front Endocrinol (Lausanne)
; 14: 1248231, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964948
7.
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Front Endocrinol (Lausanne)
; 14: 1134133, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37008950
8.
GNRHR-related central hypogonadism with spontaneous recovery - case report.
Ital J Pediatr
; 48(1): 184, 2022 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371229
9.
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.
Genes (Basel)
; 13(5)2022 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627128
10.
A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.
Genes (Basel)
; 13(4)2022 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456463
11.
Final adult height in children with central precocious puberty - a retrospective study.
Front Endocrinol (Lausanne)
; 13: 1008474, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531464
12.
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.
Genes (Basel)
; 13(5)2022 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35627102
13.
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Endocr Connect
; 11(12)2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36228316
14.
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient.
Front Endocrinol (Lausanne)
; 12: 581134, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211432
15.
Two Cases With an Early Presented Proopiomelanocortin Deficiency-A Long-Term Follow-Up and Systematic Literature Review.
Front Endocrinol (Lausanne)
; 12: 689387, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177811
16.
Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation.
Mol Genet Metab Rep
; 25: 100691, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33304818
17.
Anthropometry and bone mineral density in treated and untreated hyperphenylalaninemia.
Endocr Connect
; 9(7): 649-657, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32520722
18.
Acute Hyperglycemia and Spatial Working Memory in Adolescents With Type 1 Diabetes.
Diabetes Care
; 43(8): 1941-1944, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32471909
19.
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
J Int Med Res
; 46(4): 1339-1348, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29350094
20.
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.
Orphanet J Rare Dis
; 12(1): 131, 2017 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28720148