Detalhe da pesquisa
1.
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Am J Hum Genet
; 102(6): 1104-1114, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861107
2.
A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.
J Hum Genet
; 63(3): 387-390, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29335451
3.
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Pediatr Diabetes
; 18(7): 532-539, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681997
4.
Living donor liver transplantation from a heterozygous parent for classical maple syrup urine disease.
Pediatr Transplant
; 19(3): E66-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25708273
5.
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Am J Hum Genet
; 89(6): 767-72, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152678
6.
Nephrotic syndrome complicated by idiopathic central diabetes insipidus.
Pediatr Nephrol
; 29(5): 927-30, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24408226
7.
A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups.
Clin Pediatr Endocrinol
; 33(1): 17-22, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38299175
8.
Knowns and unknowns about congenital hypothyroidism: 2022 update.
Clin Pediatr Endocrinol
; 32(1): 11-25, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36761498
9.
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease.
Pediatr Int
; 59(3): 369-370, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28317307
10.
Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio.
Clin Pediatr Endocrinol
; 31(3): 185-191, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35928386
11.
Psychosocial interventions for community-dwelling individuals with schizophrenia: study protocol for a systematic review and meta-analysis.
BMJ Open
; 12(4): e057286, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35487709
12.
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.
J Physiol Sci
; 70(1): 33, 2020 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646367
13.
Newborn screening for Fabry disease in the western region of Japan.
Mol Genet Metab Rep
; 22: 100562, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31956509
14.
TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal Hyperparathyroidism.
J Endocr Soc
; 3(3): 602-606, 2019 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820485
15.
Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan.
Horm Res Paediatr
; 92(1): 45-51, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31553976
16.
Incidence and Characteristics of Adrenal Crisis in Children Younger than 7 Years with 21-Hydroxylase Deficiency: A Nationwide Survey in Japan.
Horm Res Paediatr
; 89(3): 166-171, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29455197
17.
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.
Clin Pediatr Endocrinol
; 26(4): 207-213, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29026269
18.
Central effects of calcitonin receptor-stimulating peptide-1 on energy homeostasis in rats.
Endocrinology
; 147(4): 2043-50, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16410305
19.
Development of a novel ultrasensitive enzyme immunoassay for human glutamic acid decarboxylase 65 antibody.
Ann Clin Biochem
; 53(Pt 4): 495-503, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26384362
20.
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
JIMD Rep
; 21: 115-22, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25665839