Detalhe da pesquisa
1.
Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.
Am J Med Genet A
; : e63612, 2024 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38554024
2.
Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.
Endocr J
; 71(5): 471-480, 2024 May 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38462462
3.
Promoting physical activity through walking to treat childhood obesity, mainly for mild to moderate obesity.
Pediatr Int
; 62(8): 976-984, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32304151
4.
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
J Hum Genet
; 61(7): 585-91, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26984564
5.
Enhancement of lipid peroxidation and its amelioration by vitamin E in a subject with mutations in the SBP2 gene.
J Lipid Res
; 56(11): 2172-82, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26411970
6.
Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.
J Hum Genet
; 60(9): 553-6, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26040210
7.
Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelic DUOX2 mutations.
Clin Endocrinol (Oxf)
; 83(3): 394-8, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25263060
8.
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.
Clin Endocrinol (Oxf)
; 83(6): 834-41, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25866162
9.
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Clin Endocrinol (Oxf)
; 80(5): 706-13, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24313804
10.
DHX37 Variant is One of Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome / Partial Gonadal Dysgenesis without Müllerian Derivatives.
Horm Res Paediatr
; 2024 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38359811
11.
Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.
Endocr J
; 60(3): 299-304, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23197115
12.
[Analysis of thyroid lesions in childhood recipients after hematopoietic stem cell transplantation].
Rinsho Ketsueki
; 54(3): 263-8, 2013 Mar.
Artigo
Japonês
| MEDLINE | ID: mdl-23676640
13.
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.
JIMD Rep
; 64(1): 3-9, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36636595
14.
A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant.
Clin Pediatr Endocrinol
; 32(3): 161-167, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37362161
15.
Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.
J Clin Endocrinol Metab
; 2023 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-38128002
16.
Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.
Clin Pediatr Endocrinol
; 31(2): 59-67, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35431446
17.
First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly in 21-Hydroxylase Deficiency.
Front Endocrinol (Lausanne)
; 12: 808254, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-35140686
18.
Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor.
Clin Pediatr Endocrinol
; 30(2): 99-104, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33867670
19.
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
Inglês
| MEDLINE | ID: mdl-20543510
20.
Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
J Clin Endocrinol Metab
; 105(11)2020 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32835366