All Stories

  1. Radiological characteristics of skeletal growth in neonates and infants with achondroplasia

    Article • American Journal of Medical Genetics Part A, December 2023, Wiley

    YOUSUKE HIGUCHI, Dr Kosei Hasegawa

  2. Novel and recurrent <i>COMP</i> gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods

    Article • Clinical Pediatric Endocrinology, January 2023, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa

  3. Ossification of the Posterior Longitudinal Ligament Caused by X-linked Hypophosphatemia

    Article • JMA Journal, January 2023, Japan Medical Association

    Dr Kosei Hasegawa

  4. 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

    Article • Case Reports in Genetics, August 2022, Hindawi Publishing Corporation

    Dr Kosei Hasegawa

  5. Thioredoxin interacting protein protects mice from fasting induced liver steatosis by activating ER stress and its downstream signaling pathways

    Article • Scientific Reports, March 2022, Springer Science + Business Media

    Dr Kosei Hasegawa

  6. The clinical course of Rathke’s cleft cysts in pediatric patients: impact on growth and pubertal development

    Article • Clinical Pediatric Endocrinology, January 2022, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  7. Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia

    Article • Clinical Pediatric Endocrinology, January 2022, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa

  8. A novel pathogenic variant p. Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome an...

    Article • American Journal of Medical Genetics Part A, August 2021, Wiley

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  9. Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands

    Article • Molecular Genetics & Genomic Medicine, May 2021, Wiley

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  10. Preclinical diagnosis and identification of the chimeric CYP11B1/CYP11B2 gene in two pediatric cases of a Japanese family with glucocorticoid-remediable aldosteronism

    Article • Hypertension Research, March 2021, Springer Science + Business Media

    Dr Kosei Hasegawa

  11. Residual endogenous insulin secretion in Japanese children with type 1A diabetes

    Article • Clinical Pediatric Endocrinology, January 2021, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa

  12. Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

    Article • Pediatric Neurology, December 2020, Elsevier

    Dr Kosei Hasegawa

  13. Laboratory changes during adrenocorticotropic hormone therapy associated with renal calcified lesions

    Article • Pediatrics International, May 2020, Wiley

    Dr Kosei Hasegawa

  14. X-linked Hypophosphatemia (XLH) Mimicking Rheumatic Disease

    Article • Internal Medicine, May 2020, Japanese Society of Internal Medicine

    Dr Kosei Hasegawa

  15. A case of pyridoxine-dependent epilepsy with novel ALDH7A1 mutations

    Article • Oxford Medical Case Reports, March 2020, Oxford University Press (OUP)

    Dr Kosei Hasegawa

  16. Clinical Practice Guidelines for Achondroplasia*

    Article • Clinical Pediatric Endocrinology, January 2020, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa

  17. Clinical Practice Guidelines for Hypophosphatasia*

    Article • Clinical Pediatric Endocrinology, January 2020, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa

  18. Increased diagnosis of autoimmune childhood‐onset Japanese type 1 diabetes using a new glutamic acid decarboxylase antibody enzyme‐linked immunosorbent assay kit, compared with a previously used glutamic acid decarboxylase antibody radioimmunoassay kit

    Article • Journal of Diabetes Investigation, December 2019, Wiley

    Dr Kosei Hasegawa

  19. Achondroplasia

    Article • January 2019, Springer Science + Business Media

    Dr Kosei Hasegawa

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

    Article • Clinical Pediatric Endocrinology, January 2019, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

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

    Article • Endocrine Journal, January 2018, Japan Endocrine Society

    Dr Kosei Hasegawa, Seiji Fukumoto

  22. Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures

    Article • Clinical Pediatric Endocrinology, January 2018, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  23. Fulminant type 1 diabetes mellitus in Japanese children and adolescents: multi-institutional joint research of the Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes

    Article • Endocrine Journal, January 2018, Japan Endocrine Society

    Dr Kosei Hasegawa

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

    Article • Journal of Medical Case Reports, August 2017, Springer Science + Business Media

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

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

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2017, De Gruyter

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

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

    Article • January 2017, Springer Science + Business Media

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

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

    Article • Clinical Pediatric Endocrinology, January 2017, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa

  28. Improvement in glycemic control through changes in insulin regimens: findings from a Japanese cohort of children and adolescents with type 1 diabetes

    Article • Pediatric Diabetes, July 2016, Wiley

    Dr Kosei Hasegawa, Mie Mochizuki

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

    Article • BMC Pediatrics, January 2016, Springer Science + Business Media

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

  30. A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia

    Article • American Journal of Medical Genetics Part A, January 2016, Wiley

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

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

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2016, De Gruyter

    Dr Kosei Hasegawa, YOUSUKE HIGUCHI

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

    Article • Clinical Pediatric Endocrinology, January 2015, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, Dr Kosei Hasegawa

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

    Article • Pediatrics International, November 2014, Wiley

    Dr Kosei Hasegawa, Dr Kosei Hasegawa

  34. 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

    Article • Bone, October 2014, Elsevier

    Dr Kosei Hasegawa, Seiji Fukumoto

  35. Mutation spectrum ofCOL1A1andCOL1A2genes in Indian patients with osteogenesis imperfecta

    Article • American Journal of Medical Genetics Part A, March 2014, Wiley

    Dr Kosei Hasegawa

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

    Article • European Journal of Dermatology, January 2013, John Libbey Eurotext

    Dr Kosei Hasegawa

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

    Article • Bone, August 2010, Elsevier

    Dr Kosei Hasegawa, Dr Kosei Hasegawa

  38. Urinary N‐telopeptides of type I collagen in healthy children

    Article • Pediatrics International, June 2010, Wiley

    Dr Kosei Hasegawa, Dr Kosei Hasegawa

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

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2010, Endocrine Society

    Dr Kosei Hasegawa

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

    Article • Endocrine Reviews, February 2010, Endocrine Society

    Dr Kosei Hasegawa

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

    Article • Endocrinology, January 2010, Endocrine Society

    Dr Kosei Hasegawa

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

    Article • Molecular Endocrinology, January 2010, Endocrine Society

    Dr Kosei Hasegawa

  43. Growth of infants with osteogenesis imperfecta treated with bisphosphonate

    Article • Pediatrics International, February 2009, Wiley

    Dr Kosei Hasegawa, Dr Kosei Hasegawa

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

    Article • Clinical Pediatric Endocrinology, January 2009, Japanese Society for Pediatric Endocrinology

    Dr Kosei Hasegawa, Dr Kosei Hasegawa

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

    Article • Journal of Bone and Mineral Metabolism, July 2008, Springer Science + Business Media

    Dr Kosei Hasegawa, Dr Kosei Hasegawa

  46. Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients

    Article • Pediatrics International, July 2007, Wiley

    Dr Kosei Hasegawa, Dr Kosei Hasegawa