Search details
1.
Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum.
J Hum Genet
; 62(9): 803-808, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28446797
2.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Am J Hum Genet
; 92(5): 807-19, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23623389
3.
Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.
J Hum Genet
; 58(5): 250-3, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23466823
4.
[Molecular cloning and characterisation of UVSSA, the responsible gene for UV-sensitive syndrome].
Seikagaku
; 85(3): 133-44, 2013 Mar.
Article
in Japanese
| MEDLINE | ID: mdl-23631307
5.
Japanese and North American/European patients with Beckwith-Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.
Eur J Hum Genet
; 15(12): 1205-10, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-17700627
6.
Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D.
Am J Med Genet A
; 149A(4): 785-7, 2009 Feb 15.
Article
in English
| MEDLINE | ID: mdl-18642361
7.
Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.
Gene
; 512(2): 267-74, 2013 Jan 10.
Article
in English
| MEDLINE | ID: mdl-23111162
8.
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
Eur J Hum Genet
; 21(11): 1316-9, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23486540
9.
Copy number alteration and uniparental disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groups.
PLoS One
; 7(4): e36063, 2012.
Article
in English
| MEDLINE | ID: mdl-22558328
10.
Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nat Genet
; 44(5): 586-92, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22466610
11.
Agile parallel bioinformatics workflow management using Pwrake.
BMC Res Notes
; 4: 331, 2011 Sep 08.
Article
in English
| MEDLINE | ID: mdl-21899774
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