Detalhe da pesquisa
1.
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.
Hum Mol Genet
; 31(23): 3967-3974, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35535691
2.
RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.
Am J Med Genet A
; 194(6): e63562, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38337186
3.
Underweight in young Japanese women over time: a longitudinal retrospective study of the change in body mass index from ages 6 to 20 years.
Ann Hum Biol
; 51(1): 2345393, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685666
4.
Intracranial germinoma in the lateral ventricle with polydipsia and polyuria: a case report and literature review.
Childs Nerv Syst
; 39(4): 1065-1069, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271932
5.
An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report.
BMC Endocr Disord
; 22(1): 300, 2022 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461073
6.
Demographic characteristics of children with growth hormone deficiency from 1996 to 2015 in Japan: 20 years of data from the foundation for growth science in Japan.
Endocr J
; 69(8): 927-939, 2022 Aug 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35236792
7.
Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.
Endocr J
; 69(7): 831-838, 2022 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35236788
8.
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
Endocr J
; 69(1): 75-83, 2022 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373418
9.
Japan Endocrine Society clinical practice guideline for the diagnosis and management of primary aldosteronism 2021.
Endocr J
; 69(4): 327-359, 2022 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35418526
10.
Impact of school closure due to the coronavirus disease 2019 pandemic on body mass index in Japanese children: Retrospective longitudinal study.
J Paediatr Child Health
; 58(10): 1841-1846, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35841347
11.
Iatrogenic Cushing syndrome due to topical corticosteroids after skin graft surgery for giant nevus: A case report.
Pediatr Dermatol
; 39(1): 147-148, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989020
12.
Reference values of inside leg length and inside leg length to stature ratio for Japanese children, 0-12 years of age.
Ann Hum Biol
; 49(1): 1-9, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191816
13.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet
; 28(14): 2319-2329, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985895
14.
The progression of salt-wasting and the body weight change during the first 2 weeks of life in classical 21-hydroxylase deficiency patients.
Clin Endocrinol (Oxf)
; 94(2): 229-236, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33001476
15.
Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development.
Am J Med Genet A
; 185(4): 1067-1075, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33399274
16.
The current status of 492 adult women with Turner syndrome: a questionnaire survey by the Foundation for Growth Science.
Endocr J
; 68(9): 1081-1089, 2021 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33907067
17.
Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour.
Hum Reprod
; 35(11): 2609-2612, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32862221
18.
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
Endocr J
; 67(8): 853-857, 2020 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321882
19.
Reference values for salivary cortisol in healthy young infants by liquid chromatography-tandem mass spectrometry.
Pediatr Int
; 62(7): 785-788, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31976606
20.
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.
Endocr J
; 66(9): 837-842, 2019 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178538