Search details
1.
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.
Article
in English
| MEDLINE | ID: mdl-38554024
2.
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
J Inherit Metab Dis
; 2023 Sep 08.
Article
in English
| MEDLINE | ID: mdl-37681292
3.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35227688
4.
A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.
Endocr J
; 67(11): 1099-1105, 2020 Nov 28.
Article
in English
| MEDLINE | ID: mdl-32641618
5.
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.
J Hum Genet
; 64(5): 467-471, 2019 May.
Article
in English
| MEDLINE | ID: mdl-30796325
6.
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.
J Hum Genet
; 64(4): 341-346, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30692597
7.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31530938
8.
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.
Endocr J
; 66(3): 215-221, 2019 Mar 28.
Article
in English
| MEDLINE | ID: mdl-30674755
9.
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.
Article
in English
| MEDLINE | ID: mdl-29335451
10.
Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.
J Hum Genet
; 62(10): 919-922, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28592837
11.
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
J Hum Genet
; 62(7): 717-721, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28331218
12.
Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.
Am J Med Genet A
; 173(1): 217-220, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27662520
13.
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Pediatr Diabetes
; 18(7): 532-539, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-27681997
14.
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Endocr J
; 64(10): 947-954, 2017 Oct 28.
Article
in English
| MEDLINE | ID: mdl-28768959
15.
[Ictal arterial spin labeling MRI findings in two cases of acute confusional migraine].
No To Hattatsu
; 49(2): 136-40, 2017 03.
Article
in Japanese
| MEDLINE | ID: mdl-30113155
16.
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.
Article
in English
| MEDLINE | ID: mdl-26984564
17.
Genetic background of hyperphenylalaninemia in Nagasaki, Japan.
Pediatr Int
; 58(5): 431-3, 2016 May.
Article
in English
| MEDLINE | ID: mdl-27173423
18.
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
19.
An Iron-chelating Agent Improved the Cardiac Function in a Patient with Severe Heart Failure Due to Hereditary Hemochromatosis.
Intern Med
; 63(2): 253-258, 2024 Jan 15.
Article
in English
| MEDLINE | ID: mdl-37197964
20.
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.
Endocr J
; 60(8): 1013-20, 2013.
Article
in English
| MEDLINE | ID: mdl-23657145