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Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

Internal Medicine, 2021/04/15, Vol.60(8), pp.1257-1263

2021

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Changes in the number of babies born with Down syndrome in Japan

The journal of obstetrics and gynaecology research, 2022-09, Vol.48 (9), p.2385-2391

2022

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Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

Journal of human genetics, 2019-09, Vol.64 (9), p.945-954

2019

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Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13

European journal of obstetrics & gynecology and reproductive biology, 2021-01, Vol.256, p.75-81

2021

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Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Journal of human genetics, 2020-12, Vol.65 (12), p.1045-1053

2020

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Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Npj genomic medicine, 2022-10, Vol.7 (1), p.62-62, Article 62

2022

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Preconceptional folic acid supplementation in Japan

Congenital anomalies, 2017-09, Vol.57 (5), p.171-172

2017

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Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan

Japanese journal of clinical oncology, 2019-02, Vol.49 (2), p.174-182

2019

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Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos

Frontiers in cell and developmental biology, 2023-08, Vol.11, p.1215626-1215626

2023

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Clinical features of Birt–Hogg–Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma

Journal of dermatology, 2017-12, Vol.44 (12), p.1409-1411

2017

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Distribution of PAPP-A and total hCG between 11 and 13 weeks of gestation in Japanese pregnant women

The journal of maternal-fetal & neonatal medicine, 2020-06, Vol.33 (12), p.2017-2022

2020

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Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

BMC pregnancy and childbirth, 2020-02, Vol.20 (1), p.112-112, Article 112

2020

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Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study

Prenatal diagnosis, 2016-12, Vol.36 (12), p.1121-1126

2016

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Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease

Annals of neurology, 2010-08, Vol.68 (2), p.250-254

2010

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Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Journal of human genetics, 2011-02, Vol.56 (2), p.156-160

2011

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Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

Journal of human genetics, 2006-05, Vol.51 (5), p.477-479

2006

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Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations

Muscle & nerve, 2022-12, Vol.66 (6), p.757-761

2022

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A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

Journal of human genetics, 2006-05, Vol.51 (5), p.461-466

2006

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A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant

International journal of hematology, 2024-05, Vol.119 (5), p.603-607

2024

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A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.336-342

2009

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Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

Internal Medicine, 2021, pp.5143-20

2021

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SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

American journal of human genetics, 2011-01, Vol.88 (1), p.30-41

2011

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Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy

Journal of human genetics, 2016-07, Vol.61 (7), p.647-652

2016

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Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience

Prenatal diagnosis, 2015-04, Vol.35 (4), p.331-336

2015

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Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

Changes in the number of babies born with Down syndrome in Japan

Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

Retrospective details of false-positive and false-negative results in non-invasive prenatal testing for fetal trisomies 21, 18 and 13

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

Preconceptional folic acid supplementation in Japan

Multicenter experience with large panel next-generation sequencing in patients with advanced solid cancers in Japan

Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos

Clinical features of Birt–Hogg–Dubé syndrome: A Japanese case with pulmonary cysts, fibrofolliculomas and renal cell carcinoma

Distribution of PAPP-A and total hCG between 11 and 13 weeks of gestation in Japanese pregnant women

Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing

Factors affecting parental decisions to terminate pregnancy in the presence of chromosome abnormalities: a Japanese multicenter study

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease

Single-cell transcriptomes underscore genetically distinct tumor characteristics and microenvironment for hereditary kidney cancers

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure

Complete hydatidiform mole and normal live birth following intracytoplasmic sperm injection

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant

A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomy

Nationwide demonstration project of next-generation sequencing of cell-free DNA in maternal plasma in Japan: 1-year experience

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