Detalhe da pesquisa
1.
An observational study of the effectiveness and safety of growth hormone (Humatrope(®)) treatment in Japanese children with growth hormone deficiency or Turner syndrome.
Endocr J
; 60(1): 57-64, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23001148
2.
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nat Genet
; 36(3): 228-30, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14758361
3.
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.
Clin Endocrinol (Oxf)
; 76(1): 78-87, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21722153
4.
Conditional deletion of neuronal cyclin-dependent kinase 5 in developing forebrain results in microglial activation and neurodegeneration.
Am J Pathol
; 176(1): 320-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19948833
5.
Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.
Clin Endocrinol (Oxf)
; 74(2): 223-33, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21044116
6.
Axial spondylometaphyseal dysplasia: additional reports.
Am J Med Genet A
; 155A(10): 2521-8, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910225
7.
Clinical characteristics of Japanese adults with growth hormone deficiency: a HypoCCS database study.
Endocr J
; 58(5): 325-33, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21467694
8.
Adult height after growth hormone treatment in Japanese children with idiopathic growth hormone deficiency: analysis from the KIGS Japan database.
J Pediatr Endocrinol Metab
; 24(7-8): 457-62, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21932582
9.
A mutation of the ß-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1ß expression.
Eur J Endocrinol
; 185(1): 1-12, 2021 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33886498
10.
The role of N-terminal pro-B-type natriuretic peptide in the diagnosis of congestive heart failure in children. - Correlation with the heart failure score and comparison with B-type natriuretic peptide -.
Circ J
; 74(5): 998-1005, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20378998
11.
Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism.
Clin Exp Nephrol
; 14(3): 228-32, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20376516
12.
Unilateral adrenalectomy can be an alternative therapy for infantile onset Cushing' s syndrome caused by ACTH-independent macronodular adrenal hyperplasia with McCune-Albright syndrome.
Endocr J
; 57(9): 819-24, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20543510
13.
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.
J Pediatr Endocrinol Metab
; 23(11): 1189-93, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21284335
14.
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
Eur J Med Genet
; 63(11): 104039, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32805445
15.
Dried umbilical cords in the retrospective diagnosis of congenital cytomegalovirus infection as a cause of developmental delays.
Clin Infect Dis
; 48(10): e93-5, 2009 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19351268
16.
OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.
J Clin Endocrinol Metab
; 94(1): 314-9, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18854396
17.
Transforming growth factor-beta1 induces matrix metalloproteinase-9 expression in human meningeal cells via ERK and Smad pathways.
Biochem Biophys Res Commun
; 383(4): 475-9, 2009 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-19371720
18.
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
J Hum Genet
; 54(8): 493-6, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19609281
19.
Elevated free thyroxine levels detected by a neonatal screening system.
Pediatr Res
; 66(3): 312-6, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19542904
20.
Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese.
Pediatr Res
; 66(2): 135-9, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19390492