Chiba Children's Hospital

Homepage: pref.chiba.lg.jp

Alternate names: Chibaken Kodomo Byoin, チバケンコドモビョウイン, 千葉県こども病院

ROR: 00khjyb83

OpenAlex ID: I4405253373

A Subtype of Diabetes Mellitus Associated with a Mutation of Mitochondrial DNA

1994 · Takashi Kadowaki, Hiroko Kadowaki, et al. · New England Journal of Medicine · 543

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Germline gain-of-function mutations in RAF1 cause Noonan syndrome

2007 · M Abdur Razzaque, Tsutomu Nishizawa, et al. · Nature Genetics · 500

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

2018 · Giovanna Mantovani, Murat Bastepe, et al. · Nature Reviews Endocrinology · 345

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l -Arginine improves the symptoms of strokelike episodes in MELAS

2005 · Y. Koga, Y. Akita, et al. · Neurology · 311

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

2016 · Masakazu Kohda, Yoshimi Tokuzawa, et al. · PLoS Genetics · 299

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The maturation and coordination of sucking, swallowing, and respiration in preterm infants

2003 · Katsumi Mizuno, Aki Ueda · The Journal of Pediatrics · 286

Requirement for Etoposide in the Treatment of Epstein-Barr Virus–Associated Hemophagocytic Lymphohistiocytosis

2001 · Shinsaku Imashuku, Kikuko Kuriyama, et al. · Journal of Clinical Oncology · 283

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

2000 · Akira Kinoshita, Takashi Saito, et al. · Nature Genetics · 248

Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy

2006 · J. Takanashi, H. Oba, et al. · Neurology · 243

2016 · Shinsuke Hirabayashi, Kentaro Ohki, et al. · Haematologica · 234

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics

2022 · Vicente A. Yépez, Mirjana Gusic, et al. · Genome Medicine · 210

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Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect

2005 · Kayoko Hirayama‐Yamada, Mitsuhiro Kamisago, et al. · American Journal of Medical Genetics Part A · 210

Absence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome.

1998 · K Agematsu, H Nagumo, et al. · Journal of Clinical Investigation · 192

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JCS 2017 Guideline on Prevention and Treatment of Infective Endocarditis

2019 · Satoshi Nakatani, Takahiro Ohara, et al. · Circulation Journal · 180

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care

2015 · Brian T. Wilson, Zornitza Stark, et al. · Genetics in Medicine · 180

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Myelin deficiencies in both the central and the peripheral nervous systems associated with aSOX10 mutation

1999 · Ken Inoue, Yuzo Tanabe, et al. · Annals of Neurology · 176

Guidelines for the diagnosis and treatment of acute encephalopathy in childhood

2020 · Masashi Mizuguchi, Takashi Ichiyama, et al. · Brain and Development · 171

Nationwide survey of fibroblast growth factor 23 (FGF23)-related hypophosphatemic diseases in Japan: prevalence, biochemical data and treatment

2015 · Itsuro Endo, Seiji Fukumoto, et al. · Endocrine Journal · 170

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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

2014 · Robert Kopajtich, Thomas J. Nicholls, et al. · The American Journal of Human Genetics · 155

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Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease

2018 · Kana Asano, Takeo Suzuki, et al. · Nucleic Acids Research · 154

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

2006 · Terumi Murakami, Yukiko K. Hayashi, et al. · Annals of Neurology · 153

Plasmapheresis as the sole therapy for rapidly progressive Henoch-Schönlein purpura nephritis in children

1999 · Motoshi Hattori, Katsumi Ito, et al. · American Journal of Kidney Diseases · 149

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

2017 · Radha Desai, Ann E. Frazier, et al. · Brain · 147

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Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)

1989 · Satoshi Ishikiriyama, Hidefumi Tonoki, et al. · American Journal of Medical Genetics · 145

Outcome of hepatoblastomas treated using the Japanese Study Group for Pediatric Liver Tumor (JPLT) protocol-2: report from the JPLT

2010 · Tomoro Hishiki, Tadashi Matsunaga, et al. · Pediatric Surgery International · 140

Works count: 1,445

Citation count: 57,140