Search details
1.
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
J Hum Genet
; 69(2): 91-99, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38102195
2.
Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
Endocr J
; 71(1): 75-81, 2024 Jan 29.
Article
in English
| MEDLINE | ID: mdl-37989294
3.
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
J Hum Genet
; 68(7): 499-505, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-36894704
4.
A questionnaire-based survey of medical conditions in adults with Prader-Willi syndrome in Japan: implications for transitional care.
Endocr J
; 70(5): 519-528, 2023 May 29.
Article
in English
| MEDLINE | ID: mdl-36792176
5.
ACAN biallelic variants in a girl with severe idiopathic short stature.
J Hum Genet
; 67(8): 481-486, 2022 Aug.
Article
in English
| MEDLINE | ID: mdl-35314765
6.
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
J Hum Genet
; 67(7): 387-392, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-35067677
7.
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
J Hum Genet
; 67(5): 303-306, 2022 May.
Article
in English
| MEDLINE | ID: mdl-34999728
8.
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
9.
SHOX far-downstream deletion in a patient with nonsyndromic short stature.
Am J Med Genet A
; 188(7): 2173-2177, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35319168
10.
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome.
J Med Genet
; 58(6): 427-432, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32576657
11.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet
; 28(14): 2319-2329, 2019 07 15.
Article
in English
| MEDLINE | ID: mdl-30985895
12.
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
J Hum Genet
; 66(12): 1185-1187, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34112922
13.
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.
J Hum Genet
; 66(4): 439-443, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33067531
14.
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
J Hum Genet
; 66(11): 1121-1126, 2021 Nov.
Article
in English
| MEDLINE | ID: mdl-34031513
15.
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome.
J Hum Genet
; 66(10): 1021-1027, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-33640901
16.
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clin Genet
; 100(1): 40-50, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33644862
17.
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Endocr J
; 68(1): 111-117, 2021 Jan 28.
Article
in English
| MEDLINE | ID: mdl-32879144
18.
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Endocr J
; 68(5): 605-611, 2021 May 28.
Article
in English
| MEDLINE | ID: mdl-33583911
19.
Treatment approaches for congenital transverse limb deficiency: Data analysis from an epidemiological national survey in Japan.
J Orthop Sci
; 26(4): 650-654, 2021 Jul.
Article
in English
| MEDLINE | ID: mdl-32600906
20.
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.
J Hum Genet
; 65(2): 181-186, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-31645653