長谷川 奉延

研究成果

年別の研究成果 1986 2004 2006 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022

• 6865 被引用数
• 44 h-index
• 323 Article
• 25 Letter
• 13 Review article
• 8 Comment/debate
• 2 その他
  • 2 Chapter

年別の研究成果

年別の研究成果

検索結果

• Article

  A 2.0Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum

  Takagi, M., Sasaki, G., Mitsui, T., Honda, M., Tanaka, Y. & Hasegawa, T., 2013 9月, In: European Journal of Medical Genetics. 56, 9, p. 526-528 3 p.

  研究成果: Article › 査読

  • Microcephaly 100%
  • Corpus Callosum 91%
  • Chromosomes 64%
  • Rett Syndrome 37%
  • Chromosome Deletion 35%
  12 被引用数 (Scopus)

• A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol

  Hayashi, M., Kataoka, Y., Sugimura, Y., Kato, F., Fukami, M., Ogata, T., Homma, K., Hasegawa, T., Oiso, Y., Sasano, H. & Tanaka, H., 2013, In: Tohoku Journal of Experimental Medicine. 231, 2, p. 75-84 10 p.

  研究成果: Article › 査読

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 100%
  • Cortisol 90%
  • Testosterone 82%
  • Steroid 21-Hydroxylase 78%
  • Hydrocortisone 62%
  7 被引用数 (Scopus)

• Absence of proteolysis of insulin-like growth factor binding protein-3 in serum from patients with growth hormone deficiency

  Yamada, M., Hasegawa, T. & Hasegawa, Y., 1999 10月, In: Endocrine journal. 46, 5, p. 717-722 6 p.

  研究成果: Article › 査読

  Open Access

  • Insulin-Like Growth Factor Binding Protein 3 100%
  • Insulin-Like Growth Factor I 80%
  • Growth Hormone 75%
  • Proteolysis 74%
  • Serum 36%
  3 被引用数 (Scopus)

• A case of a preterm infant with 21-hydroxylase deficiency: Implications of the biochemical diagnosis with urinary pregnanetriolone by gas chromatography/mass spectrometry in selected ion monitoring (GCMS-SIM)

  Hamajima, T., Ohki, S., Imamine, H., Mizuno, H., Homma, K. & Hasegawa, T., 2004, In: clinical pediatric endocrinology. 13, 1, p. 65-70 6 p.

  研究成果: Article › 査読

  • pregnanetriolone 100%
  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 68%
  • Gas Chromatography-Mass Spectrometry 56%
  • Premature Infants 46%
  • Ions 40%
  4 被引用数 (Scopus)

• A case of impairment of mitochondrial fatty acid beta-oxidation.

  Hasegawa, T., Hori, N. & Du, W., 2002 6月, In: The Keio Journal of Medicine. 51, 2, p. 100-106 7 p.

  研究成果: Article › 査読

  • Fatty Acids 100%
  • Long-Chain Acyl-CoA Dehydrogenase 99%
  • Asphyxia 66%
  • Serum 53%
  • VLCAD deficiency 50%
  3 被引用数 (Scopus)

• A Case of Luscan-Lumish Syndrome: Possible Involvement of Enhanced GH Signaling

  Suda, K., Fukuoka, H., Iguchi, G., Kanie, K., Fujita, Y., Odake, Y., Matsumoto, R., Bando, H., Ito, H., Takahashi, M., Chihara, K., Nagai, H., Narumi, S., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2021 3月 1, In: Journal of Clinical Endocrinology and Metabolism. 106, 3, p. 718-723 6 p.

  研究成果: Article › 査読

  Open Access

  • Growth Hormone 100%
  • PR-SET Domains 59%
  • Mutation 49%
  • Pituitary Neoplasms 28%
  • Somatomedins 27%

• A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay

  Hosokawa, M., Shibata, H., Ishii, T., Fujino, A., Kuroda, T., Kosaki, K., Kameyama, K. & Hasegawa, T., 2016, In: Journal of Pediatric Endocrinology and Metabolism. 29, 6, p. 737-739 3 p.

  研究成果: Article › 査読

  • Teratoma 100%
  • Immunoassay 87%
  • Estradiol 76%
  • Serum 39%
  • Liquid Chromatography 22%
  2 被引用数 (Scopus)

• A Case of pediatric virilizing adrenocortical tumor resulting in hypothalamic-pituitary activation and central precocious puberty following surgical removal

  Miyoshi, Y., Oue, T., Oowari, M., Soh, H., Tachibana, M., Kimura, S., Kiyohara, Y., Yamada, H., Bessyo, K., Mushiake, S., Homma, K., Hasegawa, T., Sasano, H. & Ozono, K., 2009, In: Endocrine journal. 56, 8, p. 975-982 8 p.

  研究成果: Article › 査読

  • Precocious Puberty 100%
  • Pediatrics 48%
  • Androgens 45%
  • Adrenocortical Carcinoma 33%
  • Acne Vulgaris 28%
  4 被引用数 (Scopus)

• A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

  Abe, Y., Sato, T., Takagi, M., Watanabe, T., Nagayama, Y., Hasegawa, T. & Abe, T., 2012 6月 1, In: Journal of Pediatric Endocrinology and Metabolism. 25, 5-6, p. 587-590 4 p.

  研究成果: Article › 査読

  • Donohue Syndrome 100%
  • Medullary Sponge Kidney 99%
  • insulin receptor tyrosine kinase 89%
  • Somatomedins 61%
  • Mutation 32%
  12 被引用数 (Scopus)

• A case of skeletal dysplasia with advanced carpal ossification and 'monkey wrench' appearance of the femora: Mild Desbuquois dysplasia?

  Nishimura, G., Sato, S., Ogata, T., Tamai, S., Hasegawa, T. & Matsuo, N., 1996 1月 1, In: European Journal of Pediatrics. 155, 12, p. 1040-1042 3 p.

  研究成果: Article › 査読

  • Desbuquois syndrome 100%
  • Wrist 48%
  • Haplorhini 46%
  • Femur 46%
  • Osteogenesis 44%
  2 被引用数 (Scopus)

• A case of transient neonatal diabetes due to a novel mutation in ABCC8

  Takagi, M., Takeda, R., Yagi, H., Ariyasu, D., Fukuzawa, R. & Hasegawa, T., 2016, In: clinical pediatric endocrinology. 25, 4, p. 139-141 3 p.

  研究成果: Article › 査読
  4 被引用数 (Scopus)

• Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: A report of two cases and a review of the literature

  Hosokawa, M., Shibata, H., Hosokawa, T., Irie, J., Ito, H. & Hasegawa, T., 2019 5月 1, In: Journal of Pediatric Endocrinology and Metabolism. 32, 5, p. 537-541 5 p.

  研究成果: Article › 査読

  • Lipodystrophy, Partial, Acquired 100%
  • Lipodystrophy 56%
  • Hematopoietic Stem Cell Transplantation 55%
  • Metabolic Diseases 54%
  • Graft vs Host Disease 33%
  4 被引用数 (Scopus)

• 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, In: Endocrine journal. 66, 10, p. 853-857 5 p.

  研究成果: Article › 査読

  Open Access

  • Growth Hormone-Secreting Pituitary Adenoma 100%
  • Acromegaly 79%
  • Neurofibromatosis 1 78%
  • Neurofibromatosis 1 Genes 28%
  • Follicular Adenocarcinoma 26%
  13 被引用数 (Scopus)

• Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2

  Mitsui, T., Kim, O. H., Hall, C. M., Offiah, A., Johnson, D., Jin, D. K., Toh, T. H., Soneda, S., Keino, D., Matsubayashi, S., Ishii, T., Nishimura, G. & Hasegawa, T., 2014 10月, In: American Journal of Medical Genetics, Part A. 164, 10, p. 2529-2534 6 p.

  研究成果: Article › 査読

  • Pseudohypoparathyroidism Type 2 100%
  • Acrodysostosis 89%
  • Population Biological Variation 57%
  • Pseudohypoparathyroidism 54%
  • Brachydactyly 36%
  18 被引用数 (Scopus)

• A cross-sectional growth reference and chart of stretched penile length for Japanese boys aged 0-7 years

  Ishii, T., Matsuo, N., Inokuchi, M. & Hasegawa, T., 2014 1月 21, In: Hormone Research in Paediatrics. 82, 6, p. 388-393 6 p.

  研究成果: Article › 査読

  • Growth Charts 100%
  • Observer Variation 27%
  • Body Mass Index 16%
  • Weights and Measures 14%
  • Reference Values 9%
  15 被引用数 (Scopus)

• 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, In: clinical pediatric endocrinology. 27, 1, p. 9-18 10 p.

  研究成果: Article › 査読

  • Gynecomastia 100%
  • Adrenocortical Carcinoma 98%
  • Virilism 59%
  • Testosterone 38%
  • Estradiol 37%
  4 被引用数 (Scopus)

• 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 12月 1, In: Hormone Research in Paediatrics. 92, 1, p. 56-63 8 p.

  研究成果: Article › 査読

  • Primary Hyperparathyroidism 100%
  • Hypophosphatemia 38%
  • Parathyroid Neoplasms 35%
  • Parathyroidectomy 34%
  • Parathyroid Glands 34%
  1 被引用数 (Scopus)

• Age-dependent percentile for waist circumference for Japanese children based on the 1992-1994 cross-sectional national survey data

  Inokuchi, M., Matsuo, N., Anzo, M., Takayama, J. I. & Hasegawa, T., 2007 7月, In: European Journal of Pediatrics. 166, 7, p. 655-661 7 p.

  研究成果: Article › 査読

  • Waist Circumference 100%
  • Cross-Sectional Studies 64%
  • Benchmarking 53%
  • Child 43%
  40 被引用数 (Scopus)

• A genome-wide expression profile of adrenocortical cells in knockout mice lacking steroidogenic acute regulatory protein

  Ishii, T., Mitsui, T., Suzuki, S., Matsuzaki, Y. & Hasegawa, T., 2012 6月, In: Endocrinology. 153, 6, p. 2714-2723 10 p.

  研究成果: Article › 査読

  • steroidogenic acute regulatory protein 100%
  • Knockout Mice 62%
  • Genome 46%
  • Adrenal Glands 41%
  • Cholesterol 21%
  13 被引用数 (Scopus)

• Analysis of the NSD1 promoter region in patients with a Sotos syndrome phenotype

  Visser, R., Hasegawa, T., Niikawa, N. & Matsumoto, N., 2006 1月, In: Journal of Human Genetics. 51, 1, p. 15-20 6 p.

  研究成果: Article › 査読

  • Sotos Syndrome 100%
  • Genetic Promoter Regions 57%
  • Phenotype 35%
  • PR-SET Domains 15%
  • Genetic Databases 13%
  3 被引用数 (Scopus)

• An association with hypopituitarism and 9q subtelomere deletion syndrome

  Higuchi, S., Takagi, M., Takeda, R., Yoshihashi, H., Narumi, S. & Hasegawa, T., 2018 12月, In: Clinical Case Reports. 6, 12, p. 2371-2375 5 p.

  研究成果: Article › 査読

  Open Access

  • Hypopituitarism 100%

• Androngen biosynthesis in fetus and children

  Sasaki, G., Ishii, T., Hasegawa, T. & Homma, K., 2009 2月 27, In: Japanese Journal of Clinical Urology. 63, 2, p. 117-121 5 p.

  研究成果: Article › 査読

• A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

  Kusakawa, M., Sato, T., Hosoda, A., Araki, E., Matsuzaki, Y., Yamashita, Y., Ishihara, J., Inagaki, Y., Uchida, N., Ishii, T. & Hasegawa, T., 2019 12月 1, In: Human Genome Variation. 6, 1, 55.

  研究成果: Article › 査読

  Open Access

  • Barakat syndrome 100%
  • Vascular Ring 73%
  • Mutation 42%
  • Genetic Databases 22%
  • Haploinsufficiency 21%

• A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220-I222dup mutations in the OXCT1 gene

  Fukao, T., Ishii, T., Amano, N., Kursula, P., Takayanagi, M., Murase, K., Sakaguchi, N., Kondo, N. & Hasegawa, T., 2010 12月, In: Journal of Inherited Metabolic Disease. 33, SUPPL. 3, p. S307-S313

  研究成果: Article › 査読

  • 3-ketoacid CoA-transferase 100%
  • succinyl-coenzyme A 86%
  • Mutation 29%
  • Ketone Bodies 22%
  • Ketosis 22%
  9 被引用数 (Scopus)

• A new diagnostic test for VLCAD deficiency using immunohistochemistry

  Ohashi, Y., Hasegawa, Y., Murayama, K., Ogawa, M., Hasegawa, T., Kawai, M., Sakata, N., Yoshida, K., Yarita, H., Imai, K., Kumagai, I., Murakami, K., Hasegawa, H., Noguchi, S., Nonaka, I., Yamaguchi, S. & Nishino, I., 2004 6月 22, In: Neurology. 62, 12, p. 2209-2213 5 p.

  研究成果: Article › 査読

  • VLCAD deficiency 100%
  • Routine Diagnostic Tests 54%
  • Immunohistochemistry 40%
  • Long-Chain Acyl-CoA Dehydrogenase 39%
  • Muscles 20%
  35 被引用数 (Scopus)

• A new type of achondrogenesis

  Kozlowski, K., Tsuruta, T., Taki, N., Tsunoda, I., Ozawa, H., Hasegawa, T. & Sillence, D., 1986 7月, In: Pediatric Radiology. 16, 5, p. 430-432 3 p.

  研究成果: Article › 査読

  • Achondrogenesis 100%
  • Dwarfism 37%
  • Perinatal Death 31%
  3 被引用数 (Scopus)

• An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14

  Lichtner, P., König, R., Hasegawa, T., Van Esch, H., Meitinger, T. & Schuffenhauer, S., 2000, In: Journal of medical genetics. 37, 1, p. 33-37 5 p.

  研究成果: Article › 査読

  Open Access

  • 10p Deletion Syndrome (Partial) 100%
  • DiGeorge Syndrome 97%
  • Hypoparathyroidism 91%
  • Deafness 77%
  • Chromosome Deletion 60%
  86 被引用数 (Scopus)

• An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia

  Tao, K., Awazu, M., Honda, M., Shibata, H., Mori, T., Uchida, S., Hasegawa, T. & Ishii, T., 2021 4月, In: Endocrinology, Diabetes and Metabolism Case Reports. 2021, 1, 20-0189.

  研究成果: Article › 査読

  Open Access

  • Nephrogenic Diabetes Insipidus 100%
  • Hyperphosphatemia 89%
  • Hypercalcemia 73%
  • Hypernatremia 46%
  • Calcium-Sensing Receptors 43%

• An observational study of the effectiveness and safety of growth hormone (humatrope®) treatment in Japanese children with growth hormone deficiency or turner syndrome

  Tai, S., Tanaka, T., Hasegawa, T., Ozono, K., Tanaka, H., Kanzaki, S., Yokoya, S., Fujieda, K., Chihara, K. & Seino, Y., 2013, In: Endocrine journal. 60, 1, p. 57-64 8 p.

  研究成果: Article › 査読

  • Turner Syndrome 100%
  • Human Growth Hormone 96%
  • Growth Hormone 75%
  • Observational Studies 61%
  • Safety 46%
  7 被引用数 (Scopus)

• Another family with tricho-rhino-phalangeal syndrome Type III (Sugio- Kajii syndrome)

  Nagai, T., Nishimura, G., Kasai, H., Hasegawa, T., Kato, R., Ohashi, H. & Fukushima, Y., 1994, In: American journal of medical genetics. 49, 3, p. 278-280 3 p.

  研究成果: Article › 査読

  • Type III Trichorhinophalangeal Syndrome 100%
  • Pyrus 21%
  • Exostoses 21%
  • Epiphyses 17%
  • Metacarpal Bones 17%
  16 被引用数 (Scopus)

• A novel case of somatic KCNJ5 mutation in pediatric-onset aldosterone-producing adenoma

  Uchida, N., Amano, N., Yamaoka, Y., Uematsu, A., Sekine, Y., Suzuki, M., Watanabe, J., Nishimoto, K., Mukai, K., Fukuzawa, R., Hasegawa, T. & Ishii, T., 2017 8月, In: Journal of the Endocrine Society. 1, 8, p. 1056-1061 6 p.

  研究成果: Article › 査読

  Open Access

  • Aldosterone 100%
  • Adenoma 90%
  • Pediatrics 62%
  • Mutation 54%
  • Adrenocorticotropic Hormone 17%
  2 被引用数 (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 4月 1, In: American Journal of Medical Genetics, Part A. 173, 4, p. 1071-1076 6 p.

  研究成果: Article › 査読

  • Megalencephaly 100%
  • Germ-Line Mutation 79%
  • Growth Hormone 67%
  • Gain of Function Mutation 31%
  • Thymoma 28%
  5 被引用数 (Scopus)

• A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency

  Yamaguchi, R., Kato, F., Hasegawa, T., Katsumata, N., Fukami, M., Matsui, T., Nagasaki, K. & Ogata, T., 2013, In: Endocrine journal. 60, 7, p. 855-859 5 p.

  研究成果: Article › 査読

  • NADP Transhydrogenases 100%
  • Glucocorticoids 51%
  • Mutation 31%
  • Genes 22%
  • Mineralocorticoids 12%
  12 被引用数 (Scopus)

• A novel KAL1 mutation is associated with combined pituitary hormone deficiency

  Takagi, M., Narumi, S., Hamada, R., Hasegawa, Y. & Hasegawa, T., 2014, In: Human Genome Variation. 1, 14011.

  研究成果: Article › 査読

  Open Access

  • Combined Pituitary Hormone Deficiency 100%
  • Renal Adysplasia 61%
  • Mutation 57%
  • Developmental 54%
  • Microphthalmos 47%
  5 被引用数 (Scopus)

• A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

  Takagi, M., Ishii, T., Barnes, A. M., Weis, M., Amano, N., Tanaka, M., Fukuzawa, R., Nishimura, G., Eyre, D. R., Marini, J. C. & Hasegawa, T., 2012, In: PloS one. 7, 5, p. e36809

  研究成果: Article › 査読

  • Osteogenesis Imperfecta 100%
  • bone formation 88%
  • Endoplasmic Reticulum 72%
  • 2-oxoglutarate 3-dioxygenase proline 68%
  • endoplasmic reticulum 67%
  26 被引用数 (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 8月, In: Thyroid. 28, 8, p. 1071-1073 3 p.

  研究成果: Article › 査読

  • Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 100%
  • Mutation 81%
  • Haploinsufficiency 31%
  • Homeobox Genes 28%
  • In Vitro Techniques 10%
  6 被引用数 (Scopus)

• A novel mutation in SOX2 causes hypogonadotropic hypogonadism with mild ocular malformation

  Takagi, M., Narumi, S., Asakura, Y., Muroya, K., Hasegawa, Y., Adachi, M. & Hasegawa, T., 2014 3月, In: Hormone Research in Paediatrics. 81, 2, p. 133-138 6 p.

  研究成果: Article › 査読

  • Hypogonadism 100%
  • Eye 52%
  • Mutation 47%
  • Penis agenesis 22%
  • Eye Abnormalities 18%
  13 被引用数 (Scopus)

• A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3

  Takagi, M., Ishii, T., Torii, C., Kosaki, K. & Hasegawa, T., 2014 11月 7, In: Pituitary. 17, 6, p. 569-574 6 p.

  研究成果: Article › 査読

  • Kabuki syndrome 100%
  • polyalanine 98%
  • Combined Pituitary Hormone Deficiency 88%
  • Mutation 33%
  • Pituitary Dwarfism 17%
  13 被引用数 (Scopus)

• A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

  Uchida, N., Shibata, H., Nishimura, G. & Hasegawa, T., 2020 12月, In: Human Genome Variation. 7, 1, 44.

  研究成果: Article › 査読

  Open Access

  • Intervertebral disc disease 100%
  • Mutation 57%
  • Osteochondritis Dissecans 33%
  • Grandparents 29%
  • Mothers 28%
  3 被引用数 (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 3月 2, In: Human Genome Variation. 4, 17003.

  研究成果: Article › 査読

  Open Access

  • Congenita Spondyloepiphyseal dysplasia 100%
  • Mutation 45%
  • Pubic Bone 36%
  • Genetic Databases 35%
  • Missense Mutation 27%
  3 被引用数 (Scopus)

• A novel mutation of androgen receptor gene in complete androgen insensitivity syndrome

  Narumi, S., Amano, N., Hachiya, R., Ishii, T. & Hasegawa, T., 2007, In: clinical pediatric endocrinology. 16, 2, p. 59-61 3 p.

  研究成果: Article › 査読

• A novel mutation of the THRB gene in a japanese family with resistance to thyroid hormone

  Ito, J., Narumi, S., Nishizawa, K., Kamimaki, T., Hori, N. & Hasegawa, T., 2016 1月 30, In: clinical pediatric endocrinology. 25, 1, p. 19-22 4 p.

  研究成果: Article › 査読
  1 被引用数 (Scopus)

• A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type maroteaux

  Amano, N., Kitoh, H., Narumi, S., Nishimura, G. & Hasegawa, T., 2020, In: clinical pediatric endocrinology. 29, 3, p. 99-103 5 p.

  研究成果: Article › 査読

  Open Access

  • Maroteaux type Acromesomelic dysplasia 100%
  • C-Type Natriuretic Peptide 47%
  • atrial natriuretic factor receptor B 26%
  • Mutation 26%
  • Brachydactyly 24%
  1 被引用数 (Scopus)

• A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

  Hamada, J., Ochi, F., Sei, Y., Takemoto, K., Hirai, H., Honda, M., Shibata, H., Hasegawa, T. & Eguchi, M., 2020 12月 1, In: Human Genome Variation. 7, 1, 30.

  研究成果: Article › 査読

  Open Access

  • Kallmann Syndrome 100%
  • Bilateral Hearing Loss 43%
  • Hirschsprung Disease 41%
  • Sensorineural Hearing Loss 36%
  • Iris 35%
  1 被引用数 (Scopus)

• 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 12月 1, In: Journal of Human Genetics. 63, 12, p. 1277-1281 5 p.

  研究成果: Article › 査読

  • Spondylocarpotarsal synostosis 100%
  • Tarsal Coalition 27%
  • Mutation 27%
  • Lordosis 20%
  • Scoliosis 17%
  1 被引用数 (Scopus)

• An Unusual Variant of Chromosome 16 in Three Generations

  Hasegawa, T., Asamura, S., Nagai, T. & Tsuchiya, Y., 1992 4月, In: Pediatrics International. 34, 2, p. 166-168 3 p.

  研究成果: Article › 査読

  • Chromosomes, Human, Pair 16 100%
  • Japan 60%
  5 被引用数 (Scopus)

• A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation

  Mitani, M., Furuichi, M., Narumi, S., Hasegawa, T., Chiga, M., Uchida, S. & Sato, S., 2016, In: clinical pediatric endocrinology. 25, 4, p. 127-134 8 p.

  研究成果: Article › 査読

  • Hypopituitarism 78%
  • Mutation 34%
  • Acidosis 31%
  • Hyperkalemia 25%
  • Growth 20%
  4 被引用数 (Scopus)

• A Patient with Short Stature with Normal Growth Hormone Provocative Tests and Low Physiological 24 hr Growth Hormone Concentration

  Hasegawa, Y., Hasegawa, T., Kotoh, S. & Tsuchiya, Y., 1993, In: clinical pediatric endocrinology. 2, 1, p. 33-38 6 p.

  研究成果: Article › 査読

  • Growth Hormone 100%
  • Growth 17%
  • Therapeutics 5%

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

  Igaki, J., Nishi, A., Sato, T. & Hasegawa, T., 2018, In: clinical pediatric endocrinology. 27, 2, p. 87-93 7 p.

  研究成果: Article › 査読

  • von Hippel-Lindau Disease 100%
  • Pheochromocytoma 80%
  • Hypertension 47%
  • Pediatrics 46%
  • Tachycardia 42%
  2 被引用数 (Scopus)

• A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4

  Fujioka, M., Akiyama, T., Hosoya, M., Kikuchi, K., Fujiki, Y., Saito, Y., Yoshihama, K., Ozawa, H., Tsukada, K., Nishio, S. Y., Usami, S. I., Matsunaga, T., Hasegawa, T., Sato, Y. & Ogawa, K., 2020 5月 1, In: Medicine. 99, 19, p. e19763

  研究成果: Article › 査読

  Open Access

  • Pendred syndrome 100%
  • Sirolimus 63%
  • Placebos 27%
  • Hearing Loss 18%
  • Goiter 11%
  4 被引用数 (Scopus)