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.
Classification of pseudohypoaldosteronism type II as type IV renal tubular acidosis: results of a literature review.
Endocr J
; 70(7): 723-729, 2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37081692
3.
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
4.
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
5.
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
6.
Growth impairment in individuals with citrin deficiency.
J Inherit Metab Dis
; 42(3): 501-508, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715743
7.
Hyponatremia secondary to severe atopic dermatitis in early infancy.
Pediatr Int
; 61(6): 544-550, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985043
8.
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
9.
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Endocr J
; 64(10): 947-954, 2017 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-28768959
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report.
Clin Pediatr Endocrinol
; 32(3): 155-160, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37362166
17.
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
18.
Acid-Base Imbalance in Pseudohypoaldosteronism Type 1 in Comparison With Type IV Renal Tubular Acidosis.
J Endocr Soc
; 6(12): bvac147, 2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36320629
19.
A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation.
Clin Pediatr Endocrinol
; 31(4): 250-255, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36405439
20.
Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.
J Atheroscler Thromb
; 29(5): 667-677, 2022 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34011801