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.
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
4.
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
5.
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med
; 24(6): 1227-1237, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35300924
6.
Peripheral precocious puberty in a girl with an intracranial hCG-producing tumor: case report and literature review.
Endocr J
; 68(12): 1463-1467, 2021 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34275973
7.
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
8.
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
9.
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
J Am Soc Nephrol
; 30(5): 877-889, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30962325
10.
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
11.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
12.
Hypocarnitinemia in twins after maternal pivalate-conjugated antibiotic therapy.
Pediatr Int
; 66(1): e15750, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409865
13.
PORCN-related microphthalmia with limb anomalies: Case report and literature review.
Am J Med Genet A
; 191(2): 636-639, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401583
14.
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
Am J Med Genet A
; 176(3): 739-742, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383834
15.
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
16.
Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia.
Childs Nerv Syst
; 34(11): 2275-2281, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959505
17.
A case of adolescent trichorhinophalangeal syndrome undergoing pelvic osteotomy for bilateral acetabular dysplasia.
J Orthop Sci
; 28(6): 1501-1504, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34503898
18.
Entropy-Driven Diastereoselectivity Improvement in the Paternò-Büchi Reaction of 1-Naphthyl Aryl Ethenes with a Chiral Cyanobenzoate through Remote Alkylation.
Angew Chem Int Ed Engl
; 57(18): 4880-4885, 2018 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29446190
19.
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Genet Med
; 19(12): 1356-1366, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640239
20.
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