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Gastro-colic Fistula-associated Hypersplenism Causes Pancytopenia in a Patient with Crohn's Disease

Internal Medicine, 2023/01/01, Vol.62(1), pp.69-74

2023

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De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Scientific reports, 2015-10, Vol.5 (1), p.15199-15199, Article 15199

2015

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High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Brain & development (Tokyo. 1979), 2016-03, Vol.38 (3), p.285-292

2016

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The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children

Brain & development (Tokyo. 1979), 2019-02, Vol.41 (2), p.163-172

2019

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A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Journal of human genetics, 2014-10, Vol.59 (10), p.581-583

2014

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Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

Brain & development (Tokyo. 1979), 2017-03, Vol.39 (3), p.266-270

2017

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Pyoderma Gangrenosum with Ulcerative Colitis Successfully Treated by the Combination of Granulocyte and Monocyte Adsorption Apheresis and Corticosteroids

Internal Medicine, 2016, Vol.55(1), pp.25-30

2016

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Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation

Brain & development (Tokyo. 1979), 2016-11, Vol.38 (10), p.950-953

2016

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Gómez–López-Hernández syndrome in a Japanese patient: A case report

Brain & development (Tokyo. 1979), 2015-03, Vol.37 (3), p.356-358

2015

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Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

Brain & development (Tokyo. 1979), 2012-08, Vol.34 (7), p.601-604

2012

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Rub epilepsy in an infant with Turner syndrome

Brain & development (Tokyo. 1979), 2015-08, Vol.37 (7), p.725-728

2015

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Clinicopathological characteristics of Epstein–Barr virus and microsatellite instability subtypes of early gastric neoplasms classified by the Japanese and the World Health Organization criteria

The journal of pathology. Clinical research, 2021-07, Vol.7 (4), p.397-409

2021

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Genetic alteration of colorectal adenoma‐carcinoma sequence among gastric adenocarcinoma and dysplastic lesions in a patient with attenuated familial adenomatous polyposis

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1348-n/a

2020

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Cardiac sarcoidosis in a patient with ulcerative colitis: A case report and literature review

Medicine (Baltimore), 2024-01, Vol.103 (1), p.e36207-e36207

2024

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The clinical efficacy and safety of granulocyte and monocyte adsorptive apheresis in patients with Crohn's disease: A multicenter retrospective pilot study

Therapeutic apheresis and dialysis, 2024-06, Vol.28 (3), p.442-452

2024

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The Incidence and Risk Factors of Venous Thromboembolism in Patients with Inflammatory Bowel Disease: A Prospective Multicenter Cohort Study

Digestion, 2019-11, Vol.100 (4), p.229-237

2019

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Tremor and seizures associated with chronic manganese intoxication

Brain & development (Tokyo. 1979), 1999-03, Vol.21 (2), p.122-124

1999

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Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening

Molecular genetics and metabolism, 2018-05, Vol.124 (1), p.64-70

2018

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West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2584-2588

2011

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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

Epileptic disorders, 2014-06, Vol.16 (2), p.208-212

2014

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Acquired Opercular Epilepsy With Oromotor Dysfunction: Magnetoencephalographic Analysis and Efficacy of Corticosteroid Therapy

Journal of child neurology, 2011-07, Vol.26 (7), p.885-890

2011

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Dandy–Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient

American journal of medical genetics. Part A, 2011-01, Vol.155 (1), p.130-133

2011

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Early-onset absence epilepsy at eight months of age

Epileptic disorders, 2011-12, Vol.13 (4), p.417-421

2011

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Gastro-colic Fistula-associated Hypersplenism Causes Pancytopenia in a Patient with Crohn's Disease

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency

Pyoderma Gangrenosum with Ulcerative Colitis Successfully Treated by the Combination of Granulocyte and Monocyte Adsorption Apheresis and Corticosteroids

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation

Gómez–López-Hernández syndrome in a Japanese patient: A case report

Prognostic factors to predict the survival in patients with advanced gastric cancer who receive later‐line nivolumab monotherapy—The Asahikawa Gastric Cancer Cohort Study (AGCC)

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2

Rub epilepsy in an infant with Turner syndrome

Clinicopathological characteristics of Epstein–Barr virus and microsatellite instability subtypes of early gastric neoplasms classified by the Japanese and the World Health Organization criteria

Genetic alteration of colorectal adenoma‐carcinoma sequence among gastric adenocarcinoma and dysplastic lesions in a patient with attenuated familial adenomatous polyposis

Cardiac sarcoidosis in a patient with ulcerative colitis: A case report and literature review

The clinical efficacy and safety of granulocyte and monocyte adsorptive apheresis in patients with Crohn's disease: A multicenter retrospective pilot study

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

The Incidence and Risk Factors of Venous Thromboembolism in Patients with Inflammatory Bowel Disease: A Prospective Multicenter Cohort Study

Tremor and seizures associated with chronic manganese intoxication

Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation

Acquired Opercular Epilepsy With Oromotor Dysfunction: Magnetoencephalographic Analysis and Efficacy of Corticosteroid Therapy

Dandy–Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient

Early-onset absence epilepsy at eight months of age

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