Search details
1.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Article
in English
| MEDLINE | ID: mdl-38015437
2.
Rare sequence variants associated with the risk of non-syndromic biliary atresia.
Hepatol Res
; 53(11): 1134-1141, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37491771
3.
Perinatal and neonatal characteristics of Prader-Willi syndrome in Japan.
Pediatr Int
; 65(1): e15540, 2023.
Article
in English
| MEDLINE | ID: mdl-36975754
4.
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome.
Reprod Med Biol
; 22(1): e12504, 2023.
Article
in English
| MEDLINE | ID: mdl-36845002
5.
Achievement of Developmental Milestones Recorded in Real Time: A Mobile App-Based Study.
J Pediatr
; 245: 201-207.e9, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35182581
6.
A nationwide survey of Schaaf-Yang syndrome in Japan.
J Hum Genet
; 67(12): 735-738, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36220858
7.
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
8.
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
9.
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
10.
Examination of the Antimicrobial Peptide Myticalin A6 Active Site.
Biol Pharm Bull
; 44(4): 515-521, 2021.
Article
in English
| MEDLINE | ID: mdl-33790103
11.
Effects of growth hormone treatment on thyroid function in pediatric patients with Prader-Willi syndrome.
Am J Med Genet A
; 182(4): 659-663, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32011826
12.
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology.
J Med Genet
; 56(6): 413-418, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30242100
13.
Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy Men.
Cytogenet Genome Res
; 159(2): 66-73, 2019.
Article
in English
| MEDLINE | ID: mdl-31639787
14.
DNA Methylation Status of SHOX-Flanking CpG Islands in Healthy Individuals and Short Stature Patients with Pseudoautosomal Copy Number Variations.
Cytogenet Genome Res
; 158(2): 56-62, 2019.
Article
in English
| MEDLINE | ID: mdl-31158835
15.
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.
J Med Genet
; 55(8): 567-570, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29455159
16.
Delayed peak response of cortisol to insulin tolerance test in patients with Prader-Willi syndrome.
Am J Med Genet A
; 176(6): 1369-1374, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29696788
17.
Tricin inhibits the CCL5 induction required for efficient growth of human cytomegalovirus.
Microbiol Immunol
; 62(5): 341-347, 2018 May.
Article
in English
| MEDLINE | ID: mdl-29603339
18.
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
19.
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Genet Med
; 19(12): 1356-1366, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28640239
20.
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