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
em 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
em Inglês
| MEDLINE | ID: mdl-38462462
3.
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature.
Endocr J
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38684424
4.
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
J Bone Miner Metab
; 41(2): 193-202, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520195
5.
Identification of clinical factors related to antibody-mediated immune response to the subfornical organ.
Clin Endocrinol (Oxf)
; 97(1): 72-80, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419873
6.
Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.
J Bone Miner Metab
; 39(6): 1066-1075, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255195
7.
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
8.
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Hum Genet
; 138(1): 21-35, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30368668
9.
The risk of secondary sex ratio imbalance and increased monozygotic twinning after blastocyst transfer: data from the Japan Environment and Children's Study.
Reprod Biol Endocrinol
; 17(1): 27, 2019 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30795788
10.
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta.
J Bone Miner Metab
; 36(3): 344-351, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28528406
11.
Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan.
Endocr J
; 65(6): 593-599, 2018 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526992
12.
Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.
Cytogenet Genome Res
; 151(1): 1-4, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28253503
13.
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.
Clin Endocrinol (Oxf)
; 87(1): 10-19, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374482
14.
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
15.
Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency.
Pediatr Int
; 63(4): 482-484, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33818869
16.
Fermented Food Consumption and Psychological Distress in Pregnant Women: A Nationwide Birth Cohort Study of the Japan Environment and Children's Study.
Tohoku J Exp Med
; 240(4): 309-321, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27941253
17.
Mutations in PIGL in a patient with Mabry syndrome.
Am J Med Genet A
; 167A(4): 777-85, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25706356
18.
Secondhand smoke exposure is associated with the risk of hypertensive disorders of pregnancy: the Japan Environment and Children's Study.
Hypertens Res
; 46(4): 834-844, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732667
19.
Interannual Changes in the Prevalence of Intimate Partner Violence Against Pregnant Women in Miyagi Prefecture After the Great East Japan Earthquake: The Japan Environment and Children's Study.
J Interpers Violence
; 36(21-22): 10013-10028, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31617446
20.
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Hum Mutat
; 31(3): 284-94, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052757