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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

Circulation Journal, 2020/06/25, Vol.84(7), pp.1183-1188

2020

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MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Human genome variation, 2022-01, Vol.9 (1), p.2-2, Article 2

2022

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Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

Journal of human genetics, 2015-04, Vol.60 (4), p.175-182

2015

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Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Journal of human genetics, 2012-03, Vol.57 (3), p.207-211

2012

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GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

Human genome variation, 2023-02, Vol.10 (1), p.4-4, Article 4

2023

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Wisconsin syndrome with brain volume laterality: a case report and review of the literature

Journal of medical case reports, 2022-04, Vol.16 (1), p.153-153, Article 153

2022

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Novel NARS2 variant causing leigh syndrome with normal lactate levels

Human genome variation, 2022-05, Vol.9 (1), p.12-12, Article 12

2022

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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report

Clinical Pediatric Endocrinology, 2020, Vol.29(4), pp.179-182

2020

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Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Human genome variation, 2024-03, Vol.11 (1), p.13-13, Article 13

2024

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A novel HECW2 variant in an infant with congenital long QT syndrome

Human genome variation, 2023-06, Vol.10 (1), p.17-17, Article 17

2023

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Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

Journal of human genetics, 2011-08, Vol.56 (8), p.609-612

2011

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Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance : A case report

Clinical Pediatric Endocrinology, 2020-10, Vol.29 (4), p.179-182

2020

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Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Journal of human genetics, 2012-03, Vol.57 (3), p.191-196

2012

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Genitopatellar syndrome: the first reported case in Japan

Human genome variation, 2018-05, Vol.5 (1), p.8-4, Article 8

2018

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SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Journal of human genetics, 2016-04, Vol.61 (4), p.335-343

2016

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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Human genome variation, 2019-01, Vol.6 (1), p.8, Article 8

2019

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A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

Brain & development (Tokyo. 1979), 2009-01, Vol.31 (1), p.27-33

2009

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Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti

Brain & development (Tokyo. 1979), 2009-09, Vol.31 (8), p.625-628

2009

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Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

Journal of human genetics, 2007-05, Vol.52 (5), p.397-405

2007

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Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1

The Journal of biological chemistry, 2001-04, Vol.276 (15), p.11469-11472

2001

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Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study

Brain & development (Tokyo. 1979), 2023-08, Vol.45 (7), p.390-394

2023

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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Genetics in medicine, 2005-09, Vol.7 (7), p.479-483

2005

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

American journal of human genetics, 2019-05, Vol.104 (5), p.815-834

2019

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NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy

Wisconsin syndrome with brain volume laterality: a case report and review of the literature

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

A novel HECW2 variant in an infant with congenital long QT syndrome

Case Report: A Rare Case of Esophagogastric Junctional Squamous Cell Carcinoma After the Successful Treatment of Neuroendocrine Carcinoma: Clonal Tumor Evolution Revealed by Genetic Analysis

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance : A case report

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Genitopatellar syndrome: the first reported case in Japan

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

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

Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti

Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis

Domain-specific Mutations of a Transforming Growth Factor (TGF)-β1 Latency-associated Peptide Cause Camurati-Engelmann Disease Because of the Formation of a Constitutively Active Form of TGF-β1

Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

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