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List of works by Kosei Hasegawa

A Case of Nager Syndrome Diagnosed Before Birth

scientific article published on 01 June 2019

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations

scientific article published on 01 March 2020

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

scientific article published on 26 August 2017

A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.

scientific article published on 11 January 2016

Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3.

scientific article published on 28 September 2017

Antitumor effects of a soluble insulin-like growth factor I receptor in human ovarian cancer cells: advantage of recombinant protein administration in vivo

scientific article published on November 2003

A‐kinase anchoring protein 3 messenger RNA expression in ovarian cancer and its implication on prognosis ⬇️

scientific article published on January 1, 2004

Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations

scientific article published on 21 October 2015

Children with short-limbed short stature in pediatric endocrinological services in Japan

scientific article published on 28 November 2014

Clinical Practice Guidelines for Achondroplasia

scientific article published on 09 January 2020

Clinical Practice Guidelines for Hypophosphatasia

scientific article published on 09 January 2020

Epidemiology of Pediatric Acute Encephalitis/Encephalopathy in Japan

scientific article published on 01 August 2018

Fibroblast growth factor 23 concentrations in healthy term infants during the early postpartum period

scientific article

Fibroblast growth factor 23 concentrations in healthy term infants during the early postpartum period

Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities

scientific article published on August 1, 2010

Growth of infants with osteogenesis imperfecta treated with bisphosphonate

scientific article published on 01 February 2009

HDR syndrome in a Japanese girl with biliary atresia: a case report

scientific article published on 22 January 2016

Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype.

scientific article published in January 2010

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

scientific article published on 04 December 2009

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

scientific article published on 27 June 2014

Identification of glioma-specific RFX4-E and -F isoforms and humoral immune response in patients

scientific article

Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta.

scientific article published on 4 July 2008

In vitro stimulation of CD8 and CD4 T cells by dendritic cells loaded with a complex of cholesterol-bearing hydrophobized pullulan and NY-ESO-1 protein: Identification of a new HLA-DR15-binding CD4 T-cell epitope.

scientific article published on March 2006

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan

scientific article published on 10 March 2018

Japanese familial case with metaphyseal dysplasia, Schmid Type caused by the p.T555P mutation in the COL10A1 gene.

scientific article published on January 2015

Laboratory changes during ACTH therapy associated with renal calcified lesions

scientific article published on 19 January 2020

Late-onset Lymphedema and Protein-losing Enteropathy with Noonan Syndrome ⬇️

scientific article published on August 1, 2009

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

scientific article published on 25 March 2014

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients

scientific article published on 01 October 2007

Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria

scientific article published on 28 March 2017

Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control

scientific article published on 19 October 2019

Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients

scientific article

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures

scientific article published on 31 July 2018

Over-expression of the testis-specific gene TSGA10 in cancers and its immunogenicity

scientific article

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate

scientific article published on 02 September 2020

Quantitative real-time RT-PCR analysis of NY-ESO-1 and LAGE-1a mRNA expression in normal tissues and tumors, and correlation of the protein expression with the mRNA copy number

scientific article published on 01 January 2005

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes

scientific article published in 2022

SSX expression in gynecological cancers and antibody response in patients

scientific article published on 17 December 2004

The effect of L-Glutamine and Shakuyaku-Kanzo-to for paclitaxel-induced myalgia/arthralgia

scientific article published in April 2002

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.

scientific article published on 9 December 2016

Urinary Cross-linked N-terminal Telopeptide of Type I Collagen Levels of Infants with Osteogenesis Imperfecta and Healthy Infants

scientific article published in December 2016

Urinary N-telopeptides of type I collagen in healthy children

scientific article published on 26 January 2010

X-linked Hypophosphatemia (XLH) Mimicking Rheumatic Disease

scientific article published on 17 January 2020

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