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1.
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations.
J Hum Genet
; 69(3-4): 119-123, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38200111
2.
The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) variant in breast and ovarian cancer predisposition.
Cancer Sci
; 114(7): 2993-3002, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37067535
3.
CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR.
J Med Genet
; 59(12): 1241-1246, 2022 12.
Article
in English
| MEDLINE | ID: mdl-35906012
4.
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
5.
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
6.
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
7.
Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.
Am J Med Genet A
; 185(3): 952-954, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33369046
8.
Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome.
Am J Med Genet A
; 176(2): 496-498, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29226542
9.
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
10.
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.
Hum Genome Var
; 9(1): 28, 2022 Aug 08.
Article
in English
| MEDLINE | ID: mdl-35941102
11.
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
12.
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
Hum Genome Var
; 9(1): 3, 2022 Jan 17.
Article
in English
| MEDLINE | ID: mdl-35034951
13.
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
J Hum Genet
; 56(1): 91-3, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21068742
14.
Neonatal intestinal volvulus and preduodenal portal vein associated with situs ambiguus: report of a case.
Surg Today
; 41(5): 726-9, 2011 May.
Article
in English
| MEDLINE | ID: mdl-21533951
15.
A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.
Hum Genome Var
; 8(1): 46, 2021 Dec 17.
Article
in English
| MEDLINE | ID: mdl-34921139
16.
Dynamics of transcription-mediated conversion from euchromatin to facultative heterochromatin at the Xist promoter by Tsix.
Cell Rep
; 34(13): 108912, 2021 03 30.
Article
in English
| MEDLINE | ID: mdl-33789104
17.
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
18.
Uniparental disomy and human disease: an overview.
Am J Med Genet C Semin Med Genet
; 154C(3): 329-34, 2010 Aug 15.
Article
in English
| MEDLINE | ID: mdl-20803655
19.
Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia.
Hum Genome Var
; 7: 25, 2020.
Article
in English
| MEDLINE | ID: mdl-33014402
20.
Genome-wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome.
Clin Epigenetics
; 12(1): 159, 2020 10 22.
Article
in English
| MEDLINE | ID: mdl-33092629