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1.
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system.
J Hum Genet
; 67(10): 607-611, 2022 Oct.
Article
in English
| MEDLINE | ID: mdl-35606504
2.
Efficacy and safety of propranolol cream in infantile hemangioma: A prospective pilot study.
J Pharmacol Sci
; 149(2): 60-65, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35512856
3.
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.
Cytogenet Genome Res
; 153(3): 125-130, 2017.
Article
in English
| MEDLINE | ID: mdl-29320763
4.
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.
Genet Med
; 19(4): 476-482, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27632690
5.
Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?
J Hum Genet
; 61(8): 765-9, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-27121328
6.
Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
Pediatr Int
; 58(11): 1229-1231, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27882740
7.
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib.
Endocr J
; 62(6): 523-9, 2015.
Article
in English
| MEDLINE | ID: mdl-25843330
8.
Development of waist circumference percentiles for Japanese children and an examination of their screening utility for childhood metabolic syndrome: a population-based cross-sectional study.
BMC Public Health
; 15: 1121, 2015 Nov 13.
Article
in English
| MEDLINE | ID: mdl-26566772
9.
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
J Hum Genet
; 59(6): 353-6, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24804704
10.
Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder.
Endocr J
; 61(6): 629-33, 2014.
Article
in English
| MEDLINE | ID: mdl-24621779
11.
A novel GNAS-Gsα splice donor site variant in a girl with pseudohypoparathyroidism type 1A and her mother with pseudopseudohypoparathyroidism.
Clin Pediatr Endocrinol
; 33(2): 66-70, 2024.
Article
in English
| MEDLINE | ID: mdl-38572379
12.
Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.
Clin Epigenetics
; 15(1): 78, 2023 05 06.
Article
in English
| MEDLINE | ID: mdl-37147716
13.
Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis.
J Steroid Biochem Mol Biol
; 234: 106403, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37741351
14.
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
Eur J Endocrinol
; 189(6): 590-600, 2023 Dec 06.
Article
in English
| MEDLINE | ID: mdl-38039118
15.
Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.
Clin Pediatr Endocrinol
; 31(3): 172-177, 2022.
Article
in English
| MEDLINE | ID: mdl-35928375
16.
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.
J Clin Endocrinol Metab
; 107(8): e3121-e3133, 2022 07 14.
Article
in English
| MEDLINE | ID: mdl-35583390
17.
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
J Bone Miner Res
; 37(10): 1850-1859, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35859320
18.
Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis.
Am J Med Genet A
; 170(7): 1938-41, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27150791
19.
Targeted Use of Prednisolone with Intravenous Immunoglobulin for Kawasaki Disease.
Clin Drug Investig
; 41(1): 77-88, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-33341911
20.
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.
J Clin Endocrinol Metab
; 106(3): 802-813, 2021 03 08.
Article
in English
| MEDLINE | ID: mdl-33236057