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A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

Human genome variation, 2021-10, Vol.8 (1), p.40-40, Article 40

2021

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A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia

Human genome variation, 2022-05, Vol.9 (1), p.17-17, Article 17

2022

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Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1502-n/a

2020

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Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

BMC research notes, 2021-09, Vol.14 (1), p.1-380, Article 380

2021

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Molecular Basis for Hypochondroplasia in Japan

Endocrines, 2022-07, Vol.3 (3), p.428-432

2022

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Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

Journal of human genetics, 2016-10, Vol.61 (10), p.879-884

2016

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Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Journal of human genetics, 2005-04, Vol.50 (4), p.192-202

2005

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Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Endocrine Connections, 2022-10, Vol.11 (10), p.1-9

2022

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Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements

Journal of human genetics, 2014-10, Vol.59 (10), p.549-553

2014

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Myozenin: An α-actinin- and γ-Filamin-Binding Protein of Skeletal Muscle Z Lines

Proceedings of the National Academy of Sciences - PNAS, 2001-02, Vol.98 (4), p.1595-1600

2001

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Physicians' opinion for 'new' genetic testing in Japan

Journal of human genetics, 2009-04, Vol.54 (4), p.203-208

2009

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Clinical Genetics in Japan: Efforts of Human Genetics Societies and Related Organizations

JMA journal, 2020-01, Vol.3 (1), p.1-8

2020

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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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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

American journal of human genetics, 2018-06, Vol.102 (6), p.1104-1114

2018

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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Journal of human genetics, 2022-09, Vol.67 (9), p.505-513

2022

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Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome

European journal of medical genetics, 2019-09, Vol.62 (9), p.103547-103547, Article 103547

2019

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Technical evaluation of medical practice--conversion from things to skill and art. Topics: V. Toward establishment of technical evaluation on medical practice: 4. Informed consent under unusual conditions, 2) Genetic counseling and evaluation of medical treatment fee

Nihon Naika Gakkai zasshi, 2014-12, Vol.103 (12), p.2962-2967

2014

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4. Informed Consent Under Unusual Conditions, 2) Genetic Counseling and Evaluation of Medical Treatment Fee

Nihon Naika Gakkai Zasshi, 2014/12/10, Vol.103(12), pp.2962-2967

2014

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Issues and foresight on business of genetic testing

Nihon rinshō, 2010-08, Vol.68 Suppl 8, p.310

Takada, Fumio

2010

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FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region

Human mutation, 2017-05, Vol.38 (5), p.503-506

2017

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

Annals of neurology, 2006-11, Vol.60 (5), p.597-602

2006

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Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome

Genetics in Medicine Open, 2024, Vol.2, p.101838, Article 101838

2024

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Issues on business of genetic testing in near future

Nihon rinshō, 2009-06, Vol.67 (6), p.1197

Takada, Fumio

2009

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A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia

Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening

Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles

Molecular Basis for Hypochondroplasia in Japan

Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants

Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements

Myozenin: An α-actinin- and γ-Filamin-Binding Protein of Skeletal Muscle Z Lines

Physicians' opinion for 'new' genetic testing in Japan

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Clinical Genetics in Japan: Efforts of Human Genetics Societies and Related Organizations

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

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome

Technical evaluation of medical practice--conversion from things to skill and art. Topics: V. Toward establishment of technical evaluation on medical practice: 4. Informed consent under unusual conditions, 2) Genetic counseling and evaluation of medical treatment fee

4. Informed Consent Under Unusual Conditions, 2) Genetic Counseling and Evaluation of Medical Treatment Fee

Issues and foresight on business of genetic testing

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split‐Hand/Foot Malformation: Implications for the Promoter Region

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome

Issues on business of genetic testing in near future

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