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.
Quantification of serum thyroid hormones using tandem mass spectrometry in patients with Down syndrome.
Biomed Chromatogr
; 36(1): e5249, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569083
3.
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
4.
Metreleptin worked in a diabetic woman with a history of hematopoietic stem cell transplantation (HSCT) during infancy: further support for the concept of 'HSCT-associated lipodystrophy'.
Endocr J
; 68(4): 399-407, 2021 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33229817
5.
Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Endocr J
; 65(12): 1187-1192, 2018 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224582
6.
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
7.
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
8.
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
Am J Med Genet A
; 167A(10): 2430-4, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059403
9.
Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.
Eur J Pediatr
; 174(12): 1593-602, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26074369
10.
Overall usefulness of newborn screening for congenital hypothyroidism by using free thyroxine measurement.
Endocr J
; 61(10): 1025-30, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25088493
11.
Neonatal case of classic maple syrup urine disease: usefulness of (1) H-MRS in early diagnosis.
Pediatr Int
; 56(1): 112-5, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24548198
12.
Myhre syndrome: a rare craniofacial disorder.
Cranio
; 32(4): 300-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25252769
13.
Bone marrow transplantation in Schimke immuno-osseous dysplasia.
Am J Med Genet A
; 161A(10): 2609-13, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23950031
14.
Risks of Myocarditis and Pericarditis Following Vaccination with SARS-CoV-2 mRNA Vaccines in Japan: An Analysis of Spontaneous Reports of Suspected Adverse Events.
Ther Innov Regul Sci
; 57(2): 329-342, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36310329
15.
First case of a Japanese girl with Myhre syndrome due to a heterozygous SMAD4 mutation.
Am J Med Genet A
; 158A(8): 1982-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711472
16.
A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.
Am J Med Genet A
; 152A(7): 1793-7, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583162
17.
Schimke immunoosseous dysplasia: defining skeletal features.
Eur J Pediatr
; 169(7): 801-11, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20013129
18.
Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism.
Clin Exp Nephrol
; 14(3): 228-32, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20376516
19.
Growth hormone response to GH-releasing peptide-2 in children.
J Pediatr Endocrinol Metab
; 23(5): 473-80, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20662346
20.
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
J Clin Endocrinol Metab
; 105(11)2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32841355