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1986 …2019
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Research Output 1986 2019

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Article
2019

A case report and literature review of monoallelic mutation of GHR

Mitani, M., Shima, H., Sato, T., Inoguchi, T., Kamimaki, T., Fukami, M. & Hasegawa, T., 2019 Jan 1, In : Journal of Pediatric Endocrinology and Metabolism.

Research output: Contribution to journalArticle

Mutation
Missense Mutation
Insulin-Like Growth Factor I
Computer Simulation
Growth Hormone
Hematopoietic Stem Cell Transplantation
Metabolic Diseases
Lipodystrophy
Graft vs Host Disease
Fats

Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019 Jan 1, In : Endocrine journal. 66, 10, p. 853-857 5 p.

Research output: Contribution to journalArticle

Open Access
Growth Hormone-Secreting Pituitary Adenoma
Neurofibromatosis 1
Acromegaly
Neurofibromatosis 1 Genes
Follicular Adenocarcinoma

A Familial Case of a Whole Germline CDC73 Deletion Discordant for Primary Hyperparathyroidism

Hatabu, N., Katori, N., Sato, T., Maeda, N., Suzuki, E., Komiyama, O., Tsutsui, H., Nagao, T., Nakauchi-Takahashi, H., Matsunaga, T., Ishii, T., Hasegawa, T. & Yamazawa, K., 2019 Jan 1, In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Primary Hyperparathyroidism
Genes
Hypophosphatemia
Parathyroid Neoplasms
Parathyroidectomy

Decreased Activity of the Ghrhr and Gh Promoters Causes Dominantly Inherited GH Deficiency in Humanized GH1 Mouse Models

Ariyasu, D., Kubo, E., Higa, D., Shibata, S., Takaoka, Y., Sugimoto, M., Imaizumi, K., Hasegawa, T. & Araki, K., 2019 Nov 1, In : Endocrinology. 160, 11, p. 2673-2691 19 p.

Research output: Contribution to journalArticle

Hormones
Genes
Endoplasmic Reticulum Stress
Pituitary Gland
Introns

Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency

Sasaki, G., Ishii, T., Hori, N., Amano, N., Homma, K., Sato, S. & Hasegawa, T., 2019 Jan 1, In : Endocrine journal. 66, 9, p. 837-842 6 p.

Research output: Contribution to journalArticle

Open Access
Dihydrotestosterone
Oxidoreductases
Prostate
Therapeutics
Steroids

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review

Sugisawa, C., Takamizawa, T., Abe, K., Hasegawa, T., Shiga, K., Sugawara, H., Ohsugi, K., Muroya, K., Asakura, Y., Adachi, M., Daitsu, T., Numakura, C., Koike, A., Tsubaki, J., Kitsuda, K., Matsuura, N., Taniyama, M., Ishii, S., Satoh, T., Yamada, M. & 1 others, Narumi, S., 2019 Dec 1, In : The Journal of clinical endocrinology and metabolism. 104, 12, p. 6229-6237 9 p.

Research output: Contribution to journalArticle

Hypothyroidism
Screening
Genes
Mutation
Prolactin

Historical changes and between-facility differences in adrenal venous sampling for primary aldosteronism in Japan

JPAS Study Group, 2019 Jan 1, (Accepted/In press) In : Journal of Human Hypertension.

Research output: Contribution to journalArticle

Hyperaldosteronism
Japan
Endocrinology
Licensure
Adrenocorticotropic Hormone

In vivo verification of the pathophysiology of lipoid congenital adrenal hyperplasia in the adrenal cortex

Mizuno, Y., Ishii, T. & Hasegawa, T., 2019 Jan 1, In : Endocrinology. 160, 2, p. 331-338 8 p.

Research output: Contribution to journalArticle

Adrenal Cortex
Tamoxifen
Knockout Mice
Lipids
Adrenal Glands
1 Citation (Scopus)

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: Bioinformatics consideration

Hamanaka, K., Takata, A., Uchiyama, Y., Miyatake, S., Miyake, N., Mitsuhashi, S., Iwama, K., Fujita, A., Imagawa, E., Alkanaq, A. N., Koshimizu, E., Azuma, Y., Nakashima, M., Mizuguchi, T., Saitsu, H., Wada, Y., Minami, S., Katoh-Fukui, Y., Masunaga, Y., Fukami, M. & 3 others, Hasegawa, T., Ogata, T. & Matsumoto, N., 2019 Jul 15, In : Human molecular genetics. 28, 14, p. 2319-2329 11 p., ddz066.

Research output: Contribution to journalArticle

XX Disorders of Sex Development 46
Haploinsufficiency
Computational Biology
XY Disorders of Sex Development 46
Disorders of Sex Development
Growth Charts
Reference Values
History
Growth
Young Adult

Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia

Hatabu, N., Amano, N., Mori, J., Hasegawa, Y., Matsuura, H., Sumitomo, N., Nishizawa, K., Suzuki, M., Katakura, S., Kanamoto, N., Kamimaki, T., Ishii, T. & Hasegawa, T., 2019 May 1, In : The Journal of clinical endocrinology and metabolism. 104, 5, p. 1866-1870 5 p.

Research output: Contribution to journalArticle

Pregnancy Outcome
Progesterone
Clomiphene
Menarche
Menstruation
2 Citations (Scopus)

Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program

Child, C. J., Zimmermann, A. G., Chrousos, G. P., Cummings, E., Deal, C. L., Hasegawa, T., Jia, N., Lawrence, S., Linglart, A., Loche, S., Maghnie, M., Pérez Sánchez, J., Polak, M., Predieri, B., Richter-Unruh, A., Rosenfeld, R. G., Yeste, D., Yorifuji, T. & Blum, W. F., 2019 Feb 1, In : The Journal of clinical endocrinology and metabolism. 104, 2, p. 379-389 11 p.

Research output: Contribution to journalArticle

Neuroendocrinology
Pediatrics
Observational Studies
Medical problems
Safety
2018

Adrenocortical carcinoma characterized by gynecomastia: A case report

Takeuchi, T., Yoto, Y., Ishii, A., Tsugawa, T., Yamamoto, M., Hori, T., Kamasaki, H., Nogami, K., Oda, T., Nui, A., Kimura, S., Yamagishi, T., Homma, K., Hasegawa, T., Fukami, M., Watanabe, Y., Sasamoto, H. & Tsutsumi, H., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 1, p. 9-18 10 p.

Research output: Contribution to journalArticle

Adrenocortical Carcinoma
Gynecomastia
Virilism
Testosterone
Estradiol

An association with hypopituitarism and 9q subtelomere deletion syndrome

Higuchi, S., Takagi, M., Takeda, R., Yoshihashi, H., Narumi, S. & Hasegawa, T., 2018 Jan 1, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journalArticle

Hypopituitarism
2 Citations (Scopus)

A Novel Mutation in NKX2-1 Shows Dominant-Negative Effects only in the Presence of PAX8

Shinohara, H., Takagi, M., Ito, K., Shimizu, E., Fukuzawa, R. & Hasegawa, T., 2018 Aug 1, In : Thyroid. 28, 8, p. 1071-1073 3 p.

Research output: Contribution to journalArticle

Mutation
Haploinsufficiency
Homeobox Genes
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination

Takagi, M., Shimomura, S., Fukuzawa, R., Narumi, S., Nishimura, G. & Hasegawa, T., 2018 Jan 1, (Accepted/In press) In : Journal of Human Genetics.

Research output: Contribution to journalArticle

Mutation
Lordosis
Scoliosis
Wrist
Spine

A pediatric case of pheochromocytoma without apparent hypertension associated with von hippel-lindau disease

Igaki, J., Nishi, A., Sato, T. & Hasegawa, T., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 2, p. 87-93 7 p.

Research output: Contribution to journalArticle

von Hippel-Lindau Disease
Pheochromocytoma
Pediatrics
Hypertension
Tachycardia
2 Citations (Scopus)

Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach

Abe, K., Narumi, S., Suwanai, A. S., Adachi, M., Muroya, K., Asakura, Y., Nagasaki, K., Abe, T. & Hasegawa, T., 2018 Feb 1, In : European Journal of Endocrinology. 178, 2, p. 137-144 8 p.

Research output: Contribution to journalArticle

Congenital Hypothyroidism
Mutation
Newborn Infant
Heterozygote
Odds Ratio
1 Citation (Scopus)
Tandem Mass Spectrometry
Liquid Chromatography
Postpartum Period
Radioimmunoassay
Serum

Cover Image, Volume 176A, Number 1, January 2018

Ikenoue, S., Miyakoshi, K., Ishii, T., Sato, Y., Otani, T., Akiba, Y., Kasuga, Y., Ochiai, D., Matsumoto, T., Ichihashi, Y., Matsuzaki, Y., Tachikawa, K., Michigami, T., Nishimura, G., Ikeda, K., Hasegawa, T. & Tanaka, M., 2018 Jan 1, In : American journal of medical genetics. Part A. 176, 1, p. i

Research output: Contribution to journalArticle

Hypophosphatasia
Phenotype
2 Citations (Scopus)

Discordant fetal phenotype of hypophosphatasia in two siblings

Ikenoue, S., Miyakoshi, K., Ishii, T., Sato, Y., Otani, T., Akiba, Y., Kasuga, Y., Ochiai, D., Matsumoto, T., Ichihashi, Y., Matsuzaki, Y., Tachikawa, K., Michigami, T., Nishimura, G., Ikeda, K., Hasegawa, T. & Tanaka, M., 2018 Jan 1, In : American Journal of Medical Genetics, Part A. 176, 1, p. 171-174 4 p.

Research output: Contribution to journalArticle

Hypophosphatasia
Siblings
Phenotype
Pregnancy
Newborn Infant
2 Citations (Scopus)

Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations

Tanase-Nakao, K., Miyata, I., Terauchi, A., Saito, M., Wada, S., Hasegawa, T. & Narumi, S., 2018 Jan 1, (Accepted/In press) In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Polyhydramnios
Hypothyroidism
Oxidoreductases
Mutation
Goiter
1 Citation (Scopus)

Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors

Sugisawa, C., Abe, K., Sunaga, Y., Taniyama, M., Hasegawa, T. & Narumi, S., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 3, p. 123-130 8 p.

Research output: Contribution to journalArticle

Thyrotropin Receptors
Mutation
Congenital Hypothyroidism
Phenotype
Missense Mutation
1 Citation (Scopus)

Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency

Ono, H., Numakura, C., Homma, K., Hasegawa, T., Tsutsumi, S., Kato, F., Fujisawa, Y., Fukami, M. & Ogata, T., 2018 Jan 1, (Accepted/In press) In : Journal of Steroid Biochemistry and Molecular Biology.

Research output: Contribution to journalArticle

Antley-Bixler Syndrome Phenotype
Dihydrotestosterone
Metabolites
Steroids
Urine
1 Citation (Scopus)

Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature

Narumi, S., Matsubara, K., Ishii, T. & Hasegawa, T., 2018 Jan 1, In : Clinical Pediatric Endocrinology. 27, 4, p. 235-238 4 p.

Research output: Contribution to journalArticle

Thyroid Dysgenesis
Congenital Hypothyroidism
DNA Methylation
Epigenomics
Thyroid Gland
4 Citations (Scopus)

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Shima, H., Hayashi, M., Tachibana, T., Oshiro, M., Amano, N., Ishii, T., Haruna, H., Igarashi, M., Kon, M., Fukuzawa, R., Tanaka, Y., Fukami, M., Hasegawa, T. & Narumi, S., 2018 Nov 1, In : PLoS One. 13, 11, e0206184.

Research output: Contribution to journalArticle

XY Disorders of Sex Development 46
small for gestational age
Adrenal Insufficiency
Gestational Age
Tissue
1 Citation (Scopus)

Prevalence of central fatness in 1992–1994: 40% of Japanese boys 6–17 years

Inokuchi, M., Matsuo, N., Takayama, J. I. & Hasegawa, T., 2018 Jan 1, In : Endocrine Journal. 65, 2, p. 213-220 8 p.

Research output: Contribution to journalArticle

Body Mass Index
Waist Circumference
Pediatric Obesity
Body Size
Japan
3 Citations (Scopus)

Prevalence of diverse complications and its association with karyotypes in Japanese adult women with turner syndrome—a questionnaire survey by the foundation for growth science—

Hanew, K., Tanaka, T., Horikawa, R., Hasegawa, T. & Yokoya, S., 2018 Jan 1, In : Endocrine Journal. 65, 5, p. 509-519 11 p.

Research output: Contribution to journalArticle

Karyotype
Turner Syndrome
Growth
Epilepsy
Bone Density

Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease

Shimura, K., Shibata, H., Mizuno, Y., Amano, N., Hoshino, K., Kuroda, T., Kameyama, K., Matsuse, M., Mitsutake, N., Sugino, K., Yoshimura Noh, J., Hasegawa, T. & Ishii, T., 2018 Jan 1, (Accepted/In press) In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Graves Disease
Neoplasm Metastasis
Growth
Thyroid Gland
Iodine
1 Citation (Scopus)

Serum 25-hydroxyvitamin D3 levels of one-month-old term infants in Tokyo using liquid chromatography tandem mass spectrometry

Hara, K., Ikeda, K., Koyama, Y., Wada, Y. & Hasegawa, T., 2018 Mar 1, In : Acta Paediatrica, International Journal of Paediatrics. 107, 3, p. 532-533 2 p.

Research output: Contribution to journalArticle

Calcifediol
Tokyo
Tandem Mass Spectrometry
Liquid Chromatography
Serum
1 Citation (Scopus)

Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review

Adachi, M., Hasegawa, T., Tanaka, Y., Asakura, Y., Hanakawa, J. & Muroya, K., 2018 Dec 28, In : Endocrine Journal. 65, 12, p. 1187-1192 6 p.

Research output: Contribution to journalArticle

Virilism
Puberty
Leydig Cells
XY Disorders of Sex Development 46
Hyperplasia

Trismus-pseudocamptodactyly syndrome with bilateral hypoplastic mandibular condyles and shallow mandibular fossa: A case report

Kusano, C., Hori, N., Izawa, K., Kosaki, R., Nishimura, G. & Hasegawa, T., 2018 Jan 1, (Accepted/In press) In : Oral Science International.

Research output: Contribution to journalArticle

Mandibular Condyle
Arthrogryposis
Trismus
Genetic Databases
Hyperplasia

Two novel mutations of COMP in Japanese boys with pseudoachondroplasia

Ichihashi, Y., Takagi, M., Ishii, T., Watanabe, K., Nishimura, G. & Hasegawa, T., 2018 Dec 1, In : Human Genome Variation. 5, 1, 12.

Research output: Contribution to journalArticle

Open Access
Cartilage Oligomeric Matrix Protein
Osteochondrodysplasias
Mutation
Genes
Pseudoachondroplasia
2017
2 Citations (Scopus)

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency

Takagi, M., Dobashi, K., Nagahara, K., Kato, M., Nishimura, G., Fukuzawa, R., Narumi, S. & Hasegawa, T., 2017, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Megalencephaly
Germ-Line Mutation
Growth Hormone
Mutation
Muscle Hypotonia
1 Citation (Scopus)

A novel mutation in the C-propeptide of COL2A1 causes atypical spondyloepiphyseal dysplasia congenita

Kusano, C., Takagi, M., Hori, N., Murotsuki, J., Nishimura, G. & Hasegawa, T., 2017 Mar 2, In : Human Genome Variation. 4, 17003.

Research output: Contribution to journalArticle

Open Access
Bone
Genes
Pubic Bone
Genetic Databases
Mutation
9 Citations (Scopus)

Clinical practice guidelines for congenital hyperinsulinism

Yorifuji, T., Horikawa, R., Hasegawa, T., Adachi, M., Soneda, S., Minagawa, M., Ida, S., Yonekura, T., Kinoshita, Y., Kanamori, Y., Kitagawa, H., Shinkai, M., Sasaki, H. & Nio, M., 2017, In : Clinical Pediatric Endocrinology. 26, 3, p. 127-152 26 p.

Research output: Contribution to journalArticle

Congenital Hyperinsulinism
Practice Guidelines
Guidelines
Pediatrics
Endocrinology
1 Citation (Scopus)

FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region

Ohtaka, K., Fujisawa, Y., Takada, F., Hasegawa, Y., Miyoshi, T., Hasegawa, T., Miyoshi, H., Kameda, H., Kurokawa-Seo, M., Fukami, M. & Ogata, T., 2017, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Receptor, Fibroblast Growth Factor, Type 1
Hypogonadism
Genetic Promoter Regions
Foot
Hand
9 Citations (Scopus)

Genetic defects in pediatric-onset adrenal insufficiency in Japan

Amano, N., Narumi, S., Hayashi, M., Takagi, M., Imai, K., Nakamura, T., Hachiya, R., Sasaki, G., Homma, K., Ishii, T. & Hasegawa, T., 2017 Aug 1, In : European Journal of Endocrinology. 177, 2, p. 187-194 8 p.

Research output: Contribution to journalArticle

Adrenal Insufficiency
Addison Disease
Japan
Pediatrics
Mineralocorticoids
1 Citation (Scopus)

Histological changes in autoimmune hepatitis with graves’ disease: A child case report

Yamada, M., Shibata, H., Masugi, Y., Ishi, T., Kameyama, K., Ebinuma, H. & Hasegawa, T., 2017, In : Internal Medicine. 56, 16, p. 2139-2143 5 p.

Research output: Contribution to journalArticle

Autoimmune Hepatitis
Graves Disease
Biopsy
Transaminases
Hepatitis

Hormonal treatment of disorders of sex development

Toki, M. & Hasegawa, T., 2017, In : Japanese Journal of Clinical Urology. 71, 10, p. 784-789 6 p.

Research output: Contribution to journalArticle

Disorders of Sex Development
3 Citations (Scopus)

Incidence of diabetes mellitus and neoplasia in japanese short-statured children treated with growth hormone in the Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS)

Yokoya, S., Hasegawa, T., Ozono, K., Tanaka, H., Kanzaki, S., Tanaka, T., Chihara, K., Jia, N., Child, C. J., Ihara, K., Funai, J., Iwamoto, N. & Seino, Y., 2017, In : Clinical Pediatric Endocrinology. 26, 4, p. 229-241 13 p.

Research output: Contribution to journalArticle

Neuroendocrinology
Growth Hormone
Diabetes Mellitus
Incidence
Neoplasms

Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity

Narumi, S., Fox, L. A., Fukudome, K., Sakaguchi, Z., Sugisawa, C., Abe, K., Kameyama, K. & Hasegawa, T., 2017 Jan 1, In : Endocrine Journal. 64, 11, p. 1087-1097 11 p.

Research output: Contribution to journalArticle

Iodide Peroxidase
Phenotype
Mutation
Serum
Thyroglobulin
1 Citation (Scopus)

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

Takeda, R., Takagi, M., Shinohara, H., Futagawa, H., Narumi, S., Hasegawa, T., Nishimura, G. & Yoshihashi, H., 2017, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

Exome
Mutation
Diphosphonates
Cutis Laxa
Joint Instability
2 Citations (Scopus)

Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia

Kizu, R., Nishimura, K., Sato, R., Kosaki, K., Tanaka, T., Tanigawara, Y. & Hasegawa, T., 2017 Jul 14, (Accepted/In press) In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Diazoxide
Hypoglycemia
Pharmacokinetics
Population
Hyperglycemia
Hyperlipoproteinemia Type III
Hypertriglyceridemia
Precursor Cell Lymphoblastic Leukemia-Lymphoma
1 Citation (Scopus)

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX

Takagi, M., Yagi, H., Fukuzawa, R., Narumi, S. & Hasegawa, T., 2017 Apr 13, In : Human Genome Variation. 4, 17012.

Research output: Contribution to journalArticle

Open Access
Disorders of Sex Development
Genes
Genetic Databases
alpha-Thalassemia
Mutation
Growth Hormone
Japan
Growth
Therapeutics
Puberty
3 Citations (Scopus)

Three-Quarters Adrenalectomy for Infantile-Onset Cushing Syndrome due to Bilateral Adrenal Hyperplasia in McCune-Albright Syndrome

Itonaga, T., Goto, H., Toujigamori, M., Ohno, Y., Korematsu, S., Izumi, T., Narumi, S., Hasegawa, T. & Ihara, K., 2017 May 19, (Accepted/In press) In : Hormone Research in Paediatrics.

Research output: Contribution to journalArticle

Polyostotic Fibrous Dysplasia
Cushing Syndrome
Adrenalectomy
Hyperplasia
Abdominal Obesity
1 Citation (Scopus)

Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with turner syndrome

Isojima, T., Sakazume, S., Hasegawa, T., Ogata, T., Nakanishi, T., Nagai, T. & Yokoya, S., 2017, In : Clinical Pediatric Endocrinology. 26, 3, p. 153-164 12 p.

Research output: Contribution to journalArticle

Noonan Syndrome
Turner Syndrome
Reference Values
Growth
Weights and Measures