Lista de obras - Kosei Hasegawa - Dominio Público Uruguay

A Case of Nager Syndrome Diagnosed Before Birth

artículo científico publicado en 2019

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations

artículo científico publicado en 2020

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

artículo científico publicado en 2017

A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado el 1 de enero de 2004

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Clinical Practice Guidelines for Achondroplasia

scientific article published on 09 January 2020

Clinical Practice Guidelines for Hypophosphatasia

artículo científico publicado en 2020

Epidemiology of Pediatric Acute Encephalitis/Encephalopathy in Japan

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities

artículo científico publicado el 1 de agosto de 2010

Growth of infants with osteogenesis imperfecta treated with bisphosphonate

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2006

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2013

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures

artículo científico publicado en 2018

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

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

Lista de obras de Kosei Hasegawa

A Case of Nager Syndrome Diagnosed Before Birth

A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations

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

A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.

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

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

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

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

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

Clinical Practice Guidelines for Achondroplasia

Clinical Practice Guidelines for Hypophosphatasia

Epidemiology of Pediatric Acute Encephalitis/Encephalopathy in Japan

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

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

Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities

Growth of infants with osteogenesis imperfecta treated with bisphosphonate

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

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

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

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.

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

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

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.

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

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

Laboratory changes during ACTH therapy associated with renal calcified lesions

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

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

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients

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

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

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

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures

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

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

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

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

SSX expression in gynecological cancers and antibody response in patients

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

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

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

Urinary N-telopeptides of type I collagen in healthy children

X-linked Hypophosphatemia (XLH) Mimicking Rheumatic Disease