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

• 2008

  Mutation of a gene for thyroid transcription factor-1 (TITF1) in a patient with clinical features of resistance to thyrotropin

  Nagasaki, K., Narumi, S., Asami, T., Kikuchi, T., Hasegawa, T. & Uchiyama, M., 2008, In: Endocrine journal. 55, 5, p. 875-878 4 p.

  研究成果: Article › 査読

  • Thyroid Nuclear Factor 1 100%
  • Thyrotropin 72%
  • Mutation 38%
  • INDEL Mutation 34%
  • Congenital Hypothyroidism 30%
  20 被引用数 (Scopus)

• Radiological evolution in IMAGe association: A case report

  Amano, N., Naoaki, H., Ishii, T., Narumi, S., Hachiya, R., Nishiniura, G. & Hasegawa, T., 2008 8月 15, In: American Journal of Medical Genetics, Part A. 146, 16, p. 2130-2133 4 p.

  研究成果: Article › 査読

  • Pyle disease 100%
  • Osteogenesis 37%
  • Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 32%
  • Genetic Databases 18%
  • Ribs 15%
  11 被引用数 (Scopus)
• 2007

  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 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

• Body mass index reference values (mean and SD) for Japanese children

  Inokuchi, M., Matsuo, N., Anzo, M. & Hasegawa, T., 2007 11月 1, In: Acta Paediatrica, International Journal of Paediatrics. 96, 11, p. 1674-1676 3 p.

  研究成果: Article › 査読

  • Reference Values 100%
  • Body Mass Index 90%
  • Child 54%
  • Growth 15%
  37 被引用数 (Scopus)

• Growth failure in an infant with congenital nephrogenic diabetes insipidus during sodium restriction

  Sasaki, G., Ishii, T., Amano, N., Hachiya, R., Narumi, S. & Hasegawa, T., 2007, In: clinical pediatric endocrinology. 16, 4, p. 95-98 4 p.

  研究成果: Article › 査読

  • Nephrogenic Diabetes Insipidus 100%
  • Sodium 55%
  • Growth 33%
  • Vasopressins 29%
  • Urine 20%

• Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities

  Watanabe, M., Yoshida, R., Ueoka, K., Aoki, K., Sasagawa, I., Hasegawa, T., Sueoka, K., Kamatani, N., Yoshimura, Y. & Ogata, T., 2007 5月, In: Human Reproduction. 22, 5, p. 1279-1284 6 p.

  研究成果: Article › 査読

  • Male Genitalia 100%
  • Estrogen Receptor alpha 90%
  • Haplotypes 73%
  • Penis agenesis 53%
  • Hypospadias 42%
  49 被引用数 (Scopus)

• Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development

  Hachiya, R., Ohashi, Y., Kamei, Y., Suganami, T., Mochizuki, H., Mitsui, N., Saitoh, M., Sakuragi, M., Nishimura, G., Ohashi, H., Hasegawa, T. & Ogawa, Y., 2007 10月, In: Journal of Clinical Endocrinology and Metabolism. 92, 10, p. 4009-4014 6 p.

  研究成果: Article › 査読

  • atrial natriuretic factor receptor B 100%
  • C-Type Natriuretic Peptide 54%
  • Mutation 50%
  • Phosphotransferases 45%
  • Maroteaux type Acromesomelic dysplasia 24%
  50 被引用数 (Scopus)

• Prevalence and trends of underweight and BMI distribution changes in Japanese teenagers based on the 2001 National Survey data

  Inokuchi, M., Matsuo, N., Takayama, J. I. & Hasegawa, T., 2007 5月, In: Annals of Human Biology. 34, 3, p. 354-361 8 p.

  研究成果: Article › 査読

  • Thinness 100%
  • trend 43%
  • Students 35%
  • student 21%
  • adolescent 13%
  11 被引用数 (Scopus)

• The circadian variation of cortisol secretion in patients with anorexia nervosa in childhood and adolescence after recovery of body weight by treatment using gas chromatography/mass spectrometry in selected ion monitoring

  Homma, K., Sato, A., Watanabe, H. & Hasegawa, T., 2007, In: clinical pediatric endocrinology. 16, 1, p. 17-22 6 p.

  研究成果: Article › 査読

  • Gas Chromatography-Mass Spectrometry 100%
  • Anorexia Nervosa 97%
  • Hydrocortisone 75%
  • Ions 70%
  • Body Weight 60%
• 2006

  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)

• Congenital hypothyroidism in Peters plus syndrome

  Kosaki, R., Kamiishi, A., Sugiyama, R., Kawai, M., Hasegawa, T. & Kosaki, K., 2006 6月, In: Ophthalmic Genetics. 27, 2, p. 67-69 3 p.

  研究成果: Article › 査読

  • Krause-Kivlin syndrome 100%
  • Congenital Hypothyroidism 66%
  • Hypothyroidism 38%
  • Peters anomaly 21%
  • Recessive Genes 17%
  6 被引用数 (Scopus)

• CXorf6 is a causative gene for hypospadias

  Fukami, M., Wada, Y., Miyabayashi, K., Nishino, I., Hasegawa, T., Camerino, G., Kretz, C., Buj-Bello, A., Laporte, J., Yamada, G., Morohashi, K. I. & Ogata, T., 2006 12月 5, In: Nature genetics. 38, 12, p. 1369-1371 3 p.

  研究成果: Article › 査読

  • Hypospadias 100%
  • 46,XY Disorders of Sex Development 40%
  • Sexual Development 33%
  • Genes 31%
  • Leydig Cells 31%
  111 被引用数 (Scopus)

• Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: Diagnostic value of urine steroid hormone analysis

  Fukami, M., Hasegawa, T., Horikawa, R., Ohashi, T., Nishimura, G., Homma, K. & Ogata, T., 2006 2月, In: Pediatric Research. 59, 2, p. 276-280 5 p.

  研究成果: Article › 査読

  • Antley-Bixler Syndrome Phenotype 100%
  • Aromatase deficiency 98%
  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 76%
  • Mass Screening 51%
  • Neonatal Screening 47%
  59 被引用数 (Scopus)

• Growth-chart-based qualitative evaluation of height growth after hematopoietic stem cell transplantation

  Narumi, S., Shimada, H., Shimasaki, N., Takahashi, T., Hasegawa, T. & Mori, T., 2006 2月 1, In: Pediatric Transplantation. 10, 1, p. 26-31 6 p.

  研究成果: Article › 査読

  • Growth Charts 100%
  • Hematopoietic Stem Cell Transplantation 74%
  • Evaluation Studies 62%
  • Growth 34%
  • Stem Cell Transplantation 24%
  2 被引用数 (Scopus)

• Mutational analysis of androgen receptor (AR) gene in 46,XY patients with ambiguous genitalia and normal testosterone secretion: Endocrinological characteristics of three patients with AR gene mutations

  Miyamoto, J., Asanuma, H., Nakai, H., Hasegawa, T., Nawata, H. & Hasegawa, Y., 2006, In: clinical pediatric endocrinology. 15, 4, p. 151-162 12 p.

  研究成果: Article › 査読

  • Disorders of Sex Development 100%
  • Androgen Receptors 80%
  • Testosterone 66%
  • Mutation 41%
  • Genes 30%
  1 被引用数 (Scopus)

• Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

  Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., Okamoto, N., Yoshihashi, H., Oki, H., Nanao, K., Moriyama, N., Oku, S., Hasegawa, T., Takahashi, T., Fukushima, Y., Kawame, H. & Kosaki, K., 2006 3月, In: Journal of Pediatrics. 148, 3, p. 410-414 5 p.

  研究成果: Article › 査読

  • CHARGE Syndrome 100%
  • Coloboma 89%
  • Laryngomalacia 49%
  • Nasopharynx 37%
  • Mutation 35%
  123 被引用数 (Scopus)

• Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: Implication for the backdoor pathway to dihydrotestosterone

  Homma, K., Hasegawa, T., Nagai, T., Adachi, M., Horikawa, R., Fujiwara, I., Tajima, T., Takeda, R., Fukami, M. & Ogata, T., 2006, In: Journal of Clinical Endocrinology and Metabolism. 91, 7, p. 2643-2649 7 p.

  研究成果: Article › 査読

  • Antley-Bixler Syndrome Phenotype 100%
  • Androsterone 82%
  • Steroid Hormone 69%
  • Etiocholanolone 68%
  • Dihydrotestosterone 64%
  121 被引用数 (Scopus)
• 2005

  Association of cryptorchidism with a specific haplotype of the estrogen receptor α gene: Implication for the susceptibility to estrogenic environmental endocrine disruptors

  Yoshida, R., Fukami, M., Sasagawa, I., Hasegawa, T., Kamatani, N. & Ogata, T., 2005 8月, In: Journal of Clinical Endocrinology and Metabolism. 90, 8, p. 4716-4721 6 p.

  研究成果: Article › 査読

  • Endocrine Disruptors 100%
  • Cryptorchidism 97%
  • Endocrine Disruptor 96%
  • Estrogen 83%
  • Haplotypes 73%
  65 被引用数 (Scopus)

• Association of micropenis with pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling

  Soneda, S., Fukami, M., Fujimoto, M., Hasegawa, T., Koitabashi, Y. & Ogata, T., 2005 2月, In: Endocrine journal. 52, 1, p. 83-88 6 p.

  研究成果: Article › 査読

  • Penis agenesis 100%
  • Dioxins 82%
  • Aryl Hydrocarbon Receptors 79%
  • Genes 24%
  • Gene Frequency 22%
  23 被引用数 (Scopus)

• Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1

  Wada, Y., Okada, M., Hasegawa, T. & Ogata, T., 2005, In: Endocrine journal. 52, 4, p. 445-448 4 p.

  研究成果: Article › 査読

  • Penis agenesis 100%
  • Steroidogenic Factor 1 94%
  • Genes 24%
  • Genotype 12%
  • Gene Frequency 5%
  20 被引用数 (Scopus)

• Correlation between insulin-like growth factor-I and obesity index during inpatient treatment in anorexia nervosa in childhood and adolescence

  Choe, M. S., Sato, A., Watanabe, H. & Hasegawa, T., 2005, In: clinical pediatric endocrinology. 14, SUPPL. 24, p. 21-23 3 p.

  研究成果: Article › 査読

  • Anorexia Nervosa 100%
  • Insulin-Like Growth Factor I 88%
  • Inpatients 70%
  • Obesity 61%
  • Bed Rest 54%
  1 被引用数 (Scopus)

• Cytochrome P450 oxidoreductase gene mutations and antley-bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: Molecular and clinical studies in 10 patients

  Fukami, M., Horikawa, R., Nagai, T., Tanaka, T., Naiki, Y., Sato, N., Okuyama, T., Nakai, H., Soneda, S., Tachibana, K., Matsuo, N., Sato, S., Homma, K., Nishimura, G., Hasegawa, T. & Ogata, T., 2005 1月, In: Journal of Clinical Endocrinology and Metabolism. 90, 1, p. 414-426 13 p.

  研究成果: Article › 査読

  • Antley-Bixler Syndrome Phenotype 100%
  • Cytochrome P450 57%
  • Cytochrome P-450 Enzyme System 52%
  • Genitalia 49%
  • Oxidoreductases 49%
  126 被引用数 (Scopus)

• Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: Report of three families: Case report

  Sato, N., Hasegawa, T., Hori, N., Fukami, M., Yoshimura, Y. & Ogata, T., 2005 8月, In: Human Reproduction. 20, 8, p. 2173-2178 6 p.

  研究成果: Article › 査読

  • Kallmann Syndrome 100%
  • Receptor, Fibroblast Growth Factor, Type 1 93%
  • Gonadotropins 66%
  • Nuclear Family 42%
  • Mutation 35%
  22 被引用数 (Scopus)
• 2004

  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 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)

• Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients

  Sato, N., Katsumata, N., Kagami, M., Hasegawa, T., Hori, N., Kawakita, S., Minowada, S., Shimotsuka, A., Shishiba, Y., Yokozawa, M., Yasuda, T., Nagasaki, K., Hasegawa, D., Hasegawa, Y., Tachibana, K., Naiki, Y., Horikawa, R., Tanaka, T. & Ogata, T., 2004 3月, In: Journal of Clinical Endocrinology and Metabolism. 89, 3, p. 1079-1088 10 p.

  研究成果: Article › 査読

  • Kallmann Syndrome 100%
  • Receptor, Fibroblast Growth Factor, Type 1 93%
  • Mutation 54%
  • Renal Adysplasia 15%
  • Hypogonadism 15%
  168 被引用数 (Scopus)

• Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates

  Homma, K., Hasegawa, T., Takeshita, E., Watanabe, K., Anzo, M., Toyoura, T., Jinno, K., Ohashi, T., Hamajima, T., Takahashi, Y., Takahashi, T. & Matsuo, N., 2004 12月, In: Journal of Clinical Endocrinology and Metabolism. 89, 12, p. 6087-6091 5 p.

  研究成果: Article › 査読

  • pregnanetriolone 100%
  • Tetrahydrocortisone 85%
  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 68%
  • Creatinine 57%
  • Pregnanetriol 42%
  27 被引用数 (Scopus)

• Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R

  Kojima, K., Kure, S., Kamada, F., Hao, K., Ichinohe, A., Sato, K., Aoki, Y., Yoichi, S., Kubota, M., Horikawa, R., Utsumi, A., Miura, M., Ogawa, S., Kanazawa, M., Kohno, Y., Inokuchi, M., Hasegawa, T., Narisawa, K. & Matsubara, Y., 2004 4月, In: Molecular Genetics and Metabolism. 81, 4, p. 343-346 4 p.

  研究成果: Article › 査読

  • Glycogen Storage Disease 100%
  • Glycogen 83%
  • Genetic Testing 72%
  • Mutation 59%
  • Japan 57%
  10 被引用数 (Scopus)

• Genomic organization and sequence variation of the human integrin subunit α8 gene (ITGA8)

  Ekwa-Ekoka, C., Diaz, G. A., Carlson, C., Hasegawa, T., Samudrala, R., Lim, K. C., Yabu, J. M., Levy, B. & Schnapp, L. M., 2004 11月, In: Matrix Biology. 23, 7, p. 487-496 10 p.

  研究成果: Article › 査読

  • Integrins 100%
  • Linkage Disequilibrium 60%
  • Genetic Association Studies 56%
  • Single Nucleotide Polymorphism 44%
  • Genes 42%
  8 被引用数 (Scopus)

• Multiple polypoid masses in the gastrointestinal tract in patient with Menkes disease on copper-histidinate therapy

  Sasaki, G., Ishii, T., Sato, S., Hoshino, K., Morikawa, Y., Kodama, H., Matsuo, N., Takahashi, T. & Hasegawa, T., 2004 12月, In: European Journal of Pediatrics. 163, 12, p. 745-746 2 p.

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

• Newly recognized syndrome of metaphyseal undermodeling, spondylar dysplasia, and overgrowth: Report of two adolescents and a child

  Nishimura, G., Hasegawa, T., Kinoshita, E., Tanaka, Y., Kurosawa, K. & Yoshimoto, M., 2004 7月 15, In: American Journal of Medical Genetics. 128 A, 2, p. 204-208 5 p.

  研究成果: Article › 査読

  • Metaphyseal undermodeling, spondylar dysplasia, and overgrowth 100%
  • Child 16%
  • Delayed Puberty 11%
  • Hypospadias 9%
  • Cryptorchidism 9%
  3 被引用数 (Scopus)

• Premature ovarian failure in a female with proximal symphalangism and Noggin mutation

  Kosaki, K., Sato, S., Hasegawa, T., Matsuo, N., Suzuki, T. & Ogata, T., 2004 4月 1, In: Fertility and Sterility. 81, 4, p. 1137-1139 3 p.

  研究成果: Article › 査読

  • Cushing's symphalangism 100%
  • Primary Ovarian Insufficiency 74%
  • Mutation 30%
  • losigame 20%
  • Bone Morphogenetic Proteins 16%
  30 被引用数 (Scopus)

• Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome

  Yoshida, R., Hasegawa, T., Hasegawa, Y., Nagai, T., Kinoshita, E., Tanaka, Y., Kanegane, H., Ohyama, K., Onishi, T., Hanew, K., Okuyama, T., Horikawa, R., Tanaka, T. & Ogata, T., 2004 7月, In: Journal of Clinical Endocrinology and Metabolism. 89, 7, p. 3359-3364 6 p.

  研究成果: Article › 査読

  • Noonan Syndrome 100%
  • Protein Tyrosine Phosphatases 84%
  • Mutation 57%
  • Haematological 48%
  • Valve 18%
  88 被引用数 (Scopus)

• Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1

  Hasegawa, T., Fukami, M., Sato, N., Katsumata, N., Sasaki, G., Fukutani, K., Morohashi, K. I. & Ogata, T., 2004 12月, In: Journal of Clinical Endocrinology and Metabolism. 89, 12, p. 5930-5935 6 p.

  研究成果: Article › 査読

  • Steroidogenic Factor 1 100%
  • Gonadotropin 97%
  • Adrenal Insufficiency 83%
  • Hormone 65%
  • Mutation 55%
  85 被引用数 (Scopus)

• Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis.

  Ishii, T., Sasaki, G., Hasegawa, T., Sato, S., Matsuo, N. & Ogata, T., 2004 7月, In: The Journal of urology. 172, 1, p. 319-324 6 p.

  研究成果: Article › 査読

  • Penis agenesis 100%
  • testosterone enanthate 99%
  • Injections 35%
  • Genes 24%
  • Body Surface Area 19%
  17 被引用数 (Scopus)

• Transient hyper-17-OHPnemia unrelated to cross-reactions with residual fetal adrenal cortex products

  Mizuno, H., Ohro, Y., Sugiyama, Y., Ito, T., Hasegawa, T., Homma, K., Ueshiba, H., Ono, M. & Togari, H., 2004, In: Hormone Research. 61, 5, p. 242-245 4 p.

  研究成果: Article › 査読

  • Adrenal Cortex 100%
  • Cross Reactions 99%
  • Steroid 21-Hydroxylase 80%
  • pregnanetriolone 56%
  • 17-alpha-Hydroxyprogesterone 38%
  3 被引用数 (Scopus)
• 2003

  Giant seminoma in a patient with 5α-reductase type 2 deficiency

  Sasaki, G., Nakagawa, K., Hashiguchi, A., Hasegawa, T., Ogata, T. & Murai, M., 2003 3月 1, In: Journal of Urology. 169, 3, p. 1080-1081 2 p.

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

• Ischiospinal dysostosis with cystic kidney disease: Report of two cases

  Nishimura, G., Kim, O. H., Sato, S. & Hasegawa, T., 2003 4月, In: Clinical Dysmorphology. 12, 2, p. 101-104 4 p.

  研究成果: Article › 査読

  • Dysostoses 100%
  • Cystic Kidney Diseases 87%
  • Kidney 33%
  • Bone Cysts 28%
  • Autosomal Dominant Polycystic Kidney 13%
  6 被引用数 (Scopus)

• Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function

  Fukami, M., Matsuo, N., Hasegawa, T., Sato, S. & Ogata, T., 2003 10月, In: European journal of endocrinology. 149, 4, p. 337-341 5 p.

  研究成果: Article › 査読

  • Haploinsufficiency 100%
  • Homeobox Genes 90%
  • Puberty 66%
  • Longitudinal Studies 64%
  • Reference Values 62%
  11 被引用数 (Scopus)

• Mental retardation in a boy with congenital adrenal hypoplasia: A clue to contiguous gene syndrome involving DAX1 and IL1RAPL

  Sasaki, R., Inamo, Y., Saitoh, K., Hasegawa, T., Kinoshita, E. & Ogata, T., 2003 6月, In: Endocrine journal. 50, 3, p. 303-307 5 p.

  研究成果: Article › 査読

  • Interleukin-1 Receptor Accessory Protein 100%
  • Familial Hypoadrenocorticism 94%
  • Intellectual Disability 51%
  • Genes 22%
  • X-Linked Genes 17%
  16 被引用数 (Scopus)

• Micropenis and the 5α-reductase-2 (SRD5A2) gene: Mutation and V89L polymorphism analysis in 81 Japanese patients

  Sasaki, G., Ogata, T., Ishii, T., Kosaki, K., Sato, S., Homma, K., Takahashi, T., Hasegawa, T. & Matsuo, N., 2003 7月 1, In: Journal of Clinical Endocrinology and Metabolism. 88, 7, p. 3431-3436 6 p.

  研究成果: Article › 査読

  • Penis agenesis 100%
  • Oxidoreductases 56%
  • Mutation 52%
  • Length 36%
  • Enzyme Activity 25%
  51 被引用数 (Scopus)

• Reference Values for Urinary Steroids in Japanese Newborn Infants: Gas Chromatography/Mass Spectrometry in Selected Ion Monitoring

  Homma, K., Hasegawa, T., Masumoto, M., Takeshita, E., Watanabe, K., Chiba, H., Kurosawa, T., Takahashi, T. & Matsuo, N., 2003 12月, In: Endocrine journal. 50, 6, p. 783-792 10 p.

  研究成果: Article › 査読

  • Gas Chromatography-Mass Spectrometry 100%
  • Ions 70%
  • Reference Values 67%
  • Newborn Infant 65%
  • Steroids 63%
  55 被引用数 (Scopus)

• Spondyloepiphyseal dysplasia Maroteaux type: Report of three patients from two families and exclusion of type II collagen defects

  Nishimura, G., Kizu, R., Kijima, Y., Sakai, K., Kawaguchi, Y., Kimura, T., Matsushita, I., Shirahama, S., Ikeda, T., Ikegawa, S. & Hasegawa, T., 2003 8月 1, In: American Journal of Medical Genetics. 120 A, 4, p. 498-502 5 p.

  研究成果: Article › 査読

  • Brachyolmia Type 2 100%
  • Spondyloperipheral dysplasia short ulna 61%
  • Collagen Type II 49%
  • Brachydactyly 43%
  • Type E Brachydactyly 27%
  2 被引用数 (Scopus)
• 2002

  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)

• Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II

  Fukuzawa, R., Sato, S., Sullivan, M. J., Nishimura, G., Hasegawa, T. & Matsuo, N., 2002 11月 15, In: American journal of medical genetics. 113, 1, p. 93-96 4 p.

  研究成果: Article › 査読

  • Type II Microcephalic Osteodysplastic Primordial Dwarfism 100%
  • Autopsy 42%
  • Coxa Vara 27%
  • Dwarfism 23%
  • Microcephaly 20%
  11 被引用数 (Scopus)

• Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis

  Fujita, H., Kosaki, R., Yoshihashi, H., Ogata, T., Tomita, M., Hasegawa, T., Takahashi, T., Matsuo, N. & Kosaki, K., 2002 1月 1, In: Teratology. 65, 1, p. 10-18 9 p.

  研究成果: Article › 査読

  • Penis agenesis 100%
  • Aryl Hydrocarbon Receptors 79%
  • Hydrocarbon 43%
  • Dioxins 35%
  • human AHR protein 31%
  44 被引用数 (Scopus)

• Duplication of 8p23.2: A benign cytogenetic variant?

  Harada, N., Takano, J., Kondoh, T., Ohashi, H., Hasegawa, T., Sugawara, H., Ida, T., Yoshiura, K. I., Ohta, T., Kishino, T., Kajii, T., Niikawa, N. & Matsumoto, N., 2002 8月 15, In: American journal of medical genetics. 111, 3, p. 285-288 4 p.

  研究成果: Article › 査読

  • Interphase 100%
  • Fluorescence In Situ Hybridization 87%
  • Cytogenetics 84%
  • Chromosomes 34%
  • Lymphocytes 29%
  29 被引用数 (Scopus)

• Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: Implication for impaired sex development

  Sasaki, G., Ogata, T., Ishii, T., Hasegawa, T., Sato, S. & Matsuo, N., 2002 7月 15, In: American journal of medical genetics. 110, 4, p. 365-369 5 p.

  研究成果: Article › 査読

  • Ulnar-mammary syndrome 100%
  • Sexual Development 66%
  • Siblings 46%
  • Mutation 28%
  • Follicle Stimulating Hormone 18%
  27 被引用数 (Scopus)

• PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome

  Kosaki, K., Suzuki, T., Muroya, K., Hasegawa, T., Sato, S., Matsuo, N., Kosaki, R., Nagai, T., Hasegawa, Y. & Ogata, T., 2002, In: Journal of Clinical Endocrinology and Metabolism. 87, 8, p. 3529-3533 5 p.

  研究成果: Article › 査読

  Open Access

  • Noonan Syndrome 100%
  • Protein Tyrosine Phosphatases 84%
  • Mutation 57%
  • Delayed Puberty 14%
  • Gain of Function Mutation 12%
  93 被引用数 (Scopus)