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Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23

Journal of bone and mineral metabolism, 2021-11, Vol.39 (6), p.1066-1075

2021

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Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency

Pediatrics international, 2021-04, Vol.63 (4), p.482-484

2021

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

Clinical endocrinology (Oxford), 2022-07, Vol.97 (1), p.72-80

2022

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

Journal of bone and mineral metabolism, 2023-03, Vol.41 (2), p.193-202

2023

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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, 2018-05, Vol.36 (3), p.344-351

2018

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Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone

The journal of clinical endocrinology and metabolism, 2006-07, Vol.91 (7), p.2643-2649

2006

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Heterozygous defects in PAX6 gene and congenital hypopituitarism

European journal of endocrinology, 2015-01, Vol.172 (1), p.37-45

2015

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Incidence of Domestic Violence Against Pregnant Females After the Great East Japan Earthquake in Miyagi Prefecture: The Japan Environment and Children's Study

Disaster medicine and public health preparedness, 2017-04, Vol.11 (2), p.216-226

2017

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Selective serotonin reuptake inhibitors and risk of major congenital anomalies for pregnancies in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study

Congenital anomalies, 2017-05, Vol.57 (3), p.72-78

2017

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Pregnant Women’s Awareness of Social Capital in the Great East Japan Earthquake-Affected Areas of Miyagi Prefecture: The Japan Environment and Children’s Study

Disaster medicine and public health preparedness, 2017-06, Vol.11 (3), p.355-364

2017

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Ultrasound Appearance of Thyroid Tissue in Hypothyroid Infants

The Journal of pediatrics, 2008-07, Vol.153 (1), p.101-104

2008

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Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

Clinical endocrinology (Oxford), 2017-07, Vol.87 (1), p.10-19

2017

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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, 2024-08, Vol.194 (8), p.e63612-n/a

2024

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Mutations in PIGL in a patient with Mabry syndrome

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.777-785

2015

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Blood pressure changes during twin pregnancies: the Japan Environment and Children's Study

Journal of hypertension, 2019-01, Vol.37 (1), p.206-215

2019

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A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2851-2854

2015

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Hypophosphatemia in juvenile patients with systemic lupus erythematosus

Pediatrics international, 2003-02, Vol.45 (1), p.23-30

2003

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Hypercalcemia due to all‐trans retinoic acid therapy for acute promyelocytic leukemia: A case report of effective treatment with bisphosphonate

Pediatrics international, 2001-12, Vol.43 (6), p.688-690

2001

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Human mutation, 2010-10, Vol.31 (10), p.1142-1154

2010

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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

Journal of diabetes investigation, 2020-05, Vol.11 (3), p.594-602

2020

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PTHrP-independent hypercalcemia with increased proinflammatory cytokines and bone resorption in two children with CD19-negative precursor B acute lymphoblastic leukemia

Pediatric Blood & Cancer, 2007-12, Vol.49 (7), p.990-993

2007

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Phenotype variability in nephrogenic diabetes insipidus due to p.D85N mutation in the arginine vasopressin receptor 2 gene

Nephrology (Carlton, Vic.), 2013-05, Vol.18 (5), p.390-391

2013

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Association of achondroplasia with D own syndrome: Difficulty in prenatal diagnosis by sonographic and 3‐ D helical computed tomographic analyses

Congenital anomalies, 2015-05, Vol.55 (2), p.116-120

2015

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Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23

Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency

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

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

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

Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone

Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study

Heterozygous defects in PAX6 gene and congenital hypopituitarism

Incidence of Domestic Violence Against Pregnant Females After the Great East Japan Earthquake in Miyagi Prefecture: The Japan Environment and Children's Study

Selective serotonin reuptake inhibitors and risk of major congenital anomalies for pregnancies in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study

Pregnant Women’s Awareness of Social Capital in the Great East Japan Earthquake-Affected Areas of Miyagi Prefecture: The Japan Environment and Children’s Study

Ultrasound Appearance of Thyroid Tissue in Hypothyroid Infants

Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial

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

Mutations in PIGL in a patient with Mabry syndrome

Blood pressure changes during twin pregnancies: the Japan Environment and Children's Study

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Hypophosphatemia in juvenile patients with systemic lupus erythematosus

Hypercalcemia due to all‐trans retinoic acid therapy for acute promyelocytic leukemia: A case report of effective treatment with bisphosphonate

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

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

PTHrP-independent hypercalcemia with increased proinflammatory cytokines and bone resorption in two children with CD19-negative precursor B acute lymphoblastic leukemia

Phenotype variability in nephrogenic diabetes insipidus due to p.D85N mutation in the arginine vasopressin receptor 2 gene

Association of achondroplasia with D own syndrome: Difficulty in prenatal diagnosis by sonographic and 3‐ D helical computed tomographic analyses

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