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Examination of the Antimicrobial Peptide Myticalin A6 Active Site

Biological and Pharmaceutical Bulletin, 2021/04/01, Vol.44(4), pp.515-521

2021

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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

The journal of clinical endocrinology and metabolism, 2018-06, Vol.103 (6), p.2083-2088

2018

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A nationwide survey of Schaaf-Yang syndrome in Japan

Journal of human genetics, 2022-12, Vol.67 (12), p.735-738

2022

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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

Journal of human genetics, 2021-11, Vol.66 (11), p.1121-1126

2021

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Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Genetics in medicine, 2017-12, Vol.19 (12), p.1356-1366

2017

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Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature

Endocrine Journal, 2017, Vol.64(10), pp.947-954

2017

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De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

Frontiers in genetics, 2020-02, Vol.11, p.132-132

2020

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Collection of 2429 constrained headshots of 277 volunteers for deep learning

Scientific reports, 2022-03, Vol.12 (1), p.3730-3730, Article 3730

2022

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Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors

Journal of human genetics, 2011-08, Vol.56 (8), p.566-571

2011

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Uniparental disomy as a cause of pediatric endocrine disorders

Clinical Pediatric Endocrinology, 2018, Vol.27(3), pp.113-121

2018

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Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Genetics in medicine, 2017-04, Vol.19 (4), p.476-482

2017

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Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

The journal of clinical endocrinology and metabolism, 2021-03, Vol.106 (3), p.802-813

2021

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The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

PLoS genetics, 2010-06, Vol.6 (6), p.e1000992

2010

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Regulation of Matrix Metalloproteinases-2 and -9 Gene Expression in Cultured Human Fetal Membrane Cells by Influenza Virus Infection

Biological and Pharmaceutical Bulletin, 2016/12/01, Vol.39(12), pp.1912-1921

2016

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Identification of epigenetic memory candidates associated with gestational age at birth through analysis of methylome and transcriptional data

Scientific reports, 2021-02, Vol.11 (1), p.3381-3381, Article 3381

2021

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Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea

Journal of human genetics, 2013-03, Vol.58 (3), p.118-119

2013

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Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

Pediatrics international, 2023-01, Vol.65 (1), p.e15540-n/a

2023

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Tricin inhibits the CCL5 induction required for efficient growth of human cytomegalovirus

Microbiology and immunology, 2018-05, Vol.62 (5), p.341-347

2018

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Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system

Journal of human genetics, 2022-10, Vol.67 (10), p.607-611

2022

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Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib

Endocrine Journal, 2015, Vol.62(6), pp.523-529

2015

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Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient

Brain & development (Tokyo. 1979), 2018-11, Vol.40 (10), p.891-896

2018

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Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

PloS one, 2013-03, Vol.8 (3), p.e60105-e60105

2013

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Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome

Journal of human genetics, 2017-10, Vol.62 (10), p.919-922

2017

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Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

Clinical epigenetics, 2020-07, Vol.12 (1), p.1-111, Article 111

2020

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Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Clinical epigenetics, 2020-06, Vol.12 (1), p.86-86, Article 86

2020

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Examination of the Antimicrobial Peptide Myticalin A6 Active Site

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients

A nationwide survey of Schaaf-Yang syndrome in Japan

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

Collection of 2429 constrained headshots of 277 volunteers for deep learning

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors

Uniparental disomy as a cause of pediatric endocrine disorders

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum

The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

Regulation of Matrix Metalloproteinases-2 and -9 Gene Expression in Cultured Human Fetal Membrane Cells by Influenza Virus Infection

Identification of epigenetic memory candidates associated with gestational age at birth through analysis of methylome and transcriptional data

Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea

Perinatal and neonatal characteristics of Prader–Willi syndrome in Japan

Tricin inhibits the CCL5 induction required for efficient growth of human cytomegalovirus

Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system

Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib

Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome

Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

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