原著論文1
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原著論文2
Court F, Tayama C, Romanelli V, Trujillo AM, et al.
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of the human imprintome and suggests a germline methylation independent establishment of imprinting.
Genome Res
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原著論文3
Hannibal MC, Buckingham KJ, Ng SB, et al.
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
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原著論文4
Ohtsuka Y, Higashimoto K, Sasaki K, Jozaki K, et al.
Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome.
Clin Genet
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原著論文5
Ohtsuka Y, Higashimoto K, Oka T, Yatsuki H, et al.
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Hum Mol Genet
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原著論文6
Miura K, Miura S, Yoshiura K, et al.
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.
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原著論文7
Ng SB, Bigham AW, Buckingham KJ, et al.
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
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原著論文8
Matsuzawa N, Kondo S, Shimozato K, et al.
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
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原著論文9
Miura K, Miura S, Yamasaki K, et al.
The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.
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原著論文10
Ono S, Imamura A, Tasaki S, et al.
Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia.
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原著論文11
Oikawa M, Kuniba H, Kondoh T, et al.
Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.
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原著論文12
Yamazawa K, Nakabayashi K, Matsuoka K, et al.
Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.
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原著論文13
Yamazawa K, Nakabayashi K, Kagami M, et al.
Parthenogenetic chimaerism/mosaicism with a Silver-Russell Syndrome-like phenotype
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原著論文14
Hiura H, Okae H, Miyauchi N,et al.
Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies.
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原著論文15
Yatsuki H, Higashimoto K, Jozaki K, et al.
Novel Mutations of CDKN1C in Japanese Patients with Beckwith-Wiedemann Syndrome.
Genes & Genomics
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原著論文16
Higashimoto K, Maeda T, Okada J, et al.
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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原著論文17
Soejima H, Higashimoto K.
Epigenetic and genetic alterations of the imprinting disorder Beckwith–Wiedemann syndrome and related disorders.
J Hum Genet
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原著論文18
Rumbajan JM, Maeda T, Souzaki R, et al.
Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.
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原著論文19
Higashimoto K, Jozaki K, Kosho T, et al.
A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.
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原著論文20
Maeda T, Higashimoto K, Jozaki K, et al.
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
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