Detalhe da pesquisa
1.
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
J Hum Genet
; 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38824232
2.
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
Am J Hematol
; 99(7): 1396-1399, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562044
3.
Drosophila DJ-1 decreases neural sensitivity to stress by negatively regulating Daxx-like protein through dFOXO.
PLoS Genet
; 9(4): e1003412, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23593018
4.
CCN1 secreted by tonsil-derived mesenchymal stem cells promotes endothelial cell angiogenesis via integrin αv ß3 and AMPK.
J Cell Physiol
; 230(1): 140-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24909560
5.
In Vivo Screening of Traditional Medicinal Plants for Neuroprotective Activity against Aß42 Cytotoxicity by Using Drosophila Models of Alzheimer's Disease.
Biol Pharm Bull
; 38(12): 1891-901, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26458335
6.
Distribution and perinatal transmission of bacterial vaginal infections in pregnant women without vaginal symptoms.
Scand J Infect Dis
; 46(5): 348-53, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24552584
7.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.
Ann Pediatr Endocrinol Metab
; 29(1): 54-59, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461806
8.
Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.
Exp Clin Endocrinol Diabetes
; 132(1): 39-46, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973156
9.
Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents.
Ann Pediatr Endocrinol Metab
; 29(2): 109-118, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271994
10.
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Mol Genet Genomic Med
; 12(4): e2430, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581121
11.
Histone H3 lysine 27 and 9 hypermethylation within the Bad promoter region mediates 5-Aza-2'-deoxycytidine-induced Leydig cell apoptosis: implications of 5-Aza-2'-deoxycytidine toxicity to male reproduction.
Apoptosis
; 18(1): 99-109, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23065098
12.
Uric acid attenuates nitric oxide production by decreasing the interaction between endothelial nitric oxide synthase and calmodulin in human umbilical vein endothelial cells: a mechanism for uric acid-induced cardiovascular disease development.
Nitric Oxide
; 32: 36-42, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23624269
13.
Suppressive effects of SuHeXiang Wan on amyloid-ß42-induced extracellular signal-regulated kinase hyperactivation and glial cell proliferation in a transgenic Drosophila model of Alzheimer's disease.
Biol Pharm Bull
; 36(3): 390-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23238278
14.
Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature review.
JIMD Rep
; 64(1): 27-34, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36636588
15.
Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.
Ann Pediatr Endocrinol Metab
; 28(3): 184-192, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36731508
16.
Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.
Exp Clin Endocrinol Diabetes
; 131(10): 515-522, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37437600
17.
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.
Mol Ther Nucleic Acids
; 31: 586-595, 2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36910714
18.
Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.
Endocr Connect
; 12(5)2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917044
19.
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Mol Genet Genomic Med
; 11(4): e2127, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564961
20.
Water-stable perovskite-loaded nanogels containing antioxidant property for highly sensitive and selective detection of roxithromycin in animal-derived food products.
Sci Rep
; 12(1): 3147, 2022 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210473