菅野 潤子

46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review. 

Endocrine journal 2025年6月20日  査読有り

Functional non-coding variants in a TTTG microsatellite on chromosome 15q26.1 are a common genetic etiology of congenital hypothyroidism with thyroid gland in situ. 

Hormone research in paediatrics 1-11 2025年6月10日  査読有り最終著者

Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 34(2) 137-143 2025年4月  査読有り筆頭著者責任著者

Marked hypercalcemia due to maxacalcitol ointment use in a patient with severe motor and intellectual disabilities. 

Pediatrics international : official journal of the Japan Pediatric Society 67(1) e15850 2025年  査読有り最終著者責任著者

Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 34(1) 54-59 2025年1月  査読有り最終著者責任著者

Idiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: A case report. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 34(1) 60-65 2025年1月  査読有り最終著者責任著者

Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33(4) 219-223 2024年10月  査読有り最終著者

CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33(4) 214-218 2024年10月  査読有り最終著者

Trends in endogenous insulin secretion capacity and anti-islet autoantibody titers in two childhood-onset slowly progressive insulin-dependent diabetes mellitus cases. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33(4) 238-243 2024年10月  査読有り最終著者責任著者

A case of 49,XXXYY followed-up from infancy to adulthood with review of literature. 

Endocrine journal 71(7) 721-727 2024年4月26日  査読有り筆頭著者責任著者

Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data. 

American journal of medical genetics. Part A 194(8) e63612 2024年3月30日  査読有り

A case of long-term survival of SADDAN treated with growth hormone for marked short stature. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33(3) 144-150 2024年  査読有り筆頭著者責任著者

Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: A case report. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 33(3) 181-186 2024年  査読有り最終著者

Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27). 

Journal of bone and mineral metabolism 41(2) 193-202 2022年12月15日  査読有り

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals. 

Human genome variation 9(1) 34-34 2022年9月28日  査読有り

Identification of clinical factors related to antibody-mediated immune response to the subfornical organ. 

Clinical endocrinology 97(1) 72-80 2022年7月  査読有り

Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants. 

Frontiers in immunology 12 677572-677572 2021年  査読有り

Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 30(2) 79-84 2021年  査読有り

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited. 

The Journal of clinical endocrinology and metabolism 105(11) 2020年11月1日  査読有り

A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1. 

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 13(2) 60-66 2019年  査読有り

Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta. 

Journal of bone and mineral metabolism 36(3) 344-351 2018年5月  査読有り筆頭著者責任著者

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 

Endocrine Journal 65(8) 795-803 2018年  査読有り

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 27(1) 53-57 2018年  査読有り

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 

Human mutation 38(1) 39-42 2017年1月  査読有り

Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome. 

Cytogenetic and genome research 151(1) 1-4 2017年  査読有り

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. 

Journal of human genetics 61(7) 585-91 2016年7月  査読有り

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. 

Biology of sex differences 7 56-56 2016年  査読有り

Mutations in PIGL in a patient with Mabry syndrome. 

American journal of medical genetics. Part A 167A(4) 777-85 2015年4月  査読有り

Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation. 

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 21(3) 45-52 2012年7月  査読有り

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. 

Journal of human genetics 56(1) 34-40 2011年1月  査読有り

Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. 

Molecular genetics and metabolism 91(4) 384-9 2007年8月  査読有り筆頭著者

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. 

Journal of medical genetics 44(3) e69 2007年3月  査読有り筆頭著者

Inherited risk factors for deep venous thrombosis following total hip arthroplasty in Japanese patients: matched control study. 

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 12(2) 118-22 2007年3月  査読有り

Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test. 

Annals of neurology 59(5) 862-7 2006年5月  査読有り

De novo and salvage pathways of DNA synthesis in primary cultured neurall stem cells. 

Brain research 1071(1) 24-33 2006年2月3日  査読有り

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. 

Annals of neurology 59(2) 411-5 2006年2月  査読有り

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. 

Journal of human genetics 51(5) 455-460 2006年  査読有り

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. 

Journal of human genetics 50(5) 230-234 2005年  査読有り