Detalhe da pesquisa
1.
A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.
Endocr J
; 64(1): 83-90, 2017 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27725360
2.
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
em Inglês
| MEDLINE | ID: mdl-26984564
3.
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report.
Hepatol Res
; 46(5): 477-82, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385844
4.
Effects of financial support on treatment of adolescents with growth hormone deficiency: a retrospective study in Japan.
BMC Health Serv Res
; 16(1): 602, 2016 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27769307
5.
Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms.
Pediatr Int
; 58(12): 1337-1340, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008731
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
em Inglês
| MEDLINE | ID: mdl-26040210
7.
Acute-phase ITIH4 levels distinguish multi-system from single-system Langerhans cell histiocytosis via plasma peptidomics.
Clin Proteomics
; 12(1): 16, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097443
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
em Inglês
| MEDLINE | ID: mdl-25866162
9.
A rare CYP 21 mutation (p.E431K) induced deactivation of CYP 21A2 and resulted in congenital adrenal hyperplasia.
Endocr J
; 62(1): 101-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25319875
10.
Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil.
Pacing Clin Electrophysiol
; 37(7): 853-63, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24499369
11.
Gender differences in childhood food preference: evaluation using a subjective picture choice method.
Pediatr Int
; 56(3): 389-94, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24920454
12.
Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
Yonago Acta Med
; 67(2): 93-99, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38803594
13.
EBNA-2 -deleted Epstein-Barr virus from P3HR-1 can infect rabbits with lower efficiency than prototype Epstein-Barr virus from B95-8.
Intervirology
; 56(2): 114-21, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23295915
14.
Leprechaunism (Donohue syndrome): a case bearing novel compound heterozygous mutations in the insulin receptor gene.
Endocr J
; 60(1): 107-12, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22972224
15.
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
16.
Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.
Clin Endocrinol (Oxf)
; 77(2): 246-54, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22309212
17.
HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families.
Pediatr Diabetes
; 13(1): 33-44, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22128760
18.
Familial short stature with IGF-I receptor gene anomaly.
Endocr J
; 59(3): 179-85, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22008389
19.
Castleman disease in a child with short stature.
Pediatr Int
; 54(5): 720-4, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23005908
20.
[Treatment with a tyrosine-kinase inhibitor of for c-KIT mutation and AML1-ETO double positive refractory acute myeloid leukemia].
Rinsho Ketsueki
; 53(4): 460-4, 2012 Apr.
Artigo
em Japonês
| MEDLINE | ID: mdl-22687981