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業績一覧（2010年以前）

2010

  1. Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M, Ogata T. Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype. The Journal of Clinical Endocrinology and Metabolism 95(2):756-64, 2010.
  2. Fukami M, Maruyama T, Dateki S, Sato N, Yoshimura Y, Ogata T. Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother. Hormone Research 73(6):477-81, 2010.
  3. Muroya K, Mochizuki T, Fukami M, Iso M, Fujita K, Ogata T. Diabetes Mellitus in a Japanese Girl with HDR Syndrome and GATA3 Mutation. Endocrine Journal 57(2):171-4, 2010.
  4. Fukami M, Nagai T, Mochizuki H, Muroya K, Yamada G, Takitani K, Ogata T. Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency. Molecular genetics and metabolism 100(3):2691-73, 2010.
  5. Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M, Gat-Yablonski G. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. Human Genetics 127(6):721-9, 2010.
  6. Iijima K, Nozu K, Kamei K, Nakayama M, Ito S, Matsuoka K, Ogata T, Kaito H, Nakanishi K, Matsuo M. Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation. Pediatric nephrology 25(10):2165-70, 2010.
  7. Matsubara K, Iwamoto H, Yoshida A, Ogata T. Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5alpha-reductase-2 deficiency. Fertility and sterility 94(7):2770.e7-10, 2010.
  8. Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T. Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with LHX4 Deletion. The Journal of clinical endocrinology and metabolism 95(8):4043-7, 2010.
  9. Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T. The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS genetics 6(6):e1000992, 2010.
  10. Yamazawa K, Nakabayashi K, Kagami M, Satoh T, Hata K, Saitoh S, Nagai T, Horikawa R, Hizuka N, Ogata T. Parthenogenetic chimaerism/mosaicism with a Silverr-Russell syndromer-like phenotype. Journal of Medical Genetics 47(11):782-5, 2010.
  11. Kato H, Yoshida R, Tsukamoto K, Suga H, Aoi N, Eto H, Higashino T, Araki J, Ogata T, Yoshimura K. Familial cases of atypical clinical features genetically diagnosed as multiple lentigines syndrome (LEOPARD syndrome). International Journal of Dermatology 49(10):1146-51, 2010.
  12. Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Suguhara-Ogasawara M. Prenatal diagnosis of paternal uniparental disomy 14: delineation of further patient. American Journal of Medical Genetics A 152A(12):3189-92, 2010.

2009

  1. Sugawa F, Wada Y, Okada M, Maruyama T, Uchida H, Arase T, Hamada N, Ishizuka B, Ogata T. Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns. Fertility and Sterility 91(2): 649-652, 2009.
  2. Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH. CHD7 mutations in patients initially diagnosed with Kallmann syndrome-the clinical overlap with CHARGE syndrome. Clinical Genetics 75(1): 65-71, 2009.
  3. Hayakawa K, Katsumata N, Abe K, Hirano M, Yoshikawa K, Ogata T, Horikawa R, Nagamine T. Wide Range of Biotin (Vitamin H) Content in Foodstuffs and Powdered Milks as Assessed by High-performance Affinity Chromatography. Clinical Pediatric Endocrinology 18(1): 41-49, 2009.
  4. Kobayashi H, Yamada K, Morita S, Hiura H, Fukuda A, Kagami M, Ogata T, Hata K, Sotomaru Y, Kono T. Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2. Genomics 93(5): 461-472, 2009.
  5. Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, TIshii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, RHorikawa R, Fujieda K, Ogata T. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. The Journal of Clinical Endocrinology and Metabolism 94(5): 1723-1731, 2009.
  6. Sim SC, W Miller WL, Zhong X-B, Arlt W, Ogata T, Ding X, Wolf R, Fluck CE, Pandey AV, Henderson CJ, Porter TD, Daly AK, Nebert DW, Ingelman-Sundberg M. Nomenclature for alleles of the cytochrome P450 oxidoreductase gene. Pharmacogenetics and Genomics 19(7): 565-566, 2009.
  7. Hosoki K, Kagami M, Tanaka T, Kubota M, Kurosawa K, Kato M, Uetake K, Tohyama J, Ogata T, Saitoh S. Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype. The Journal of Pediatrics 155(6): 900-903, 2009 .
  8. Wada Y, Nishimura G, Nagai T, Sawai H, Yishikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T. Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. American Journal of Medical Genetics A 149(12): 2882-2885, 2009.
  9. Dateki S, Hizukuri K, Tanaka T, Katsumata N, Yokoya S, Katavetin P, Ogata T. An immunologically anomalous but considerably bioactive GH produced by a novel GH1 mutation (p.D116E). European Journal of Endocrinology 161(2): 301-306, 2009.

2008

  1. Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. European Journal of Human Genetics 16(8): 1019-1023, 2008.
  2. Iso M, Fumami M, Horikawa R, Azuma N, Kawashiro N, Ogata T. SOX10 Mutation in Waardenburg Syndrome Type II. American Journal of Medical Genetics A 146(16): 2162-2163, 2008.
  3. Yamazawa K, Kagami M, Nagai T, Kondoh T, Onigata K, Maeyama K, Hasegawa T, Hasegawa Y, Yamazaki T, Mizuno S, Miyoshi Y, Miyagawa S, Horikawa R, Matsuoka K, Ogata T. Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas. Journal of Molecular Medicine 86(10): 1171-1181, 2008.
  4. Dateki S, Fukami M, Sato N, Muroya K, Adachi M, Ogata T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. The Journal of Clinical Endocrinology and Metabolism 93(10): 3697-702, 2008.
  5. Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T. Placentomegaly in paternal uniparental disomy for human chromosome 14. Placenta 29(8): 760-761, 2008.
  6. Yamazawa K, Kagami M, Fukami M, Matsubara K, Ogata T. Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR. Journal of Human Genetics 53(10): 950-955, 2008.
  7. Hayakawa K, Katsumata N, Hirano M, Yoshikawa K, Ogata T, Tanaka T, Nagamine T. Determination of biotin (vitamin H) by the high-performance affinity chromatography with a trypsin-treated avidin-bound column. Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences 869(1-2): 93-100, 2008.
  8. Yoshida R, Ogata T. A Novel A461S Mutation of PTPN11 in a Female with LEOPARD Syndrome. Clinical Pediatric Endocrinology 17(4): 121-122, 2008.
  9. Yamazawa K, Kagami M, Ogawa M, Horikawa R, Ogata T. Placental hypoplasia in maternal uniparental disomy for chromosome 7. American Journal of Medical Genetics A 146A: 514-516, 2008.
  10. Suzuki K, Haraguchi R, Ogata T, Barbieri O, Alegria O, Vieux-Rochas M, Nakagata N, Ito M, Mills A, Kurita T, Levi G, Yamada G. Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. European Journal of Human Genetics 16; 36-44, 2008.
  11. Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nature Genetics 40(2), 237-242, 2008.
  12. Sekita Y, Wagatsuma H, Nakamura K, Ono R, Kagami M, Wakisaka N, Hino T, Ogura A, Ogata T, Yokoyama M, Kaneko-Ishino T, Ishino F. Suzuki-Migishima R, Takashi Kohda. Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta. Nature Genetics 40(2), 243-248, 2008.
  13. Yoshida R, Ogata T, Masawa N, Nagai T. Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. Pediatr Blood & Cancer 50(6): 1274-1276, 2008.
  14. Fukami M, Dateki S, Kato F, Hasegawa Y, Mochizuki H, Horikawa R, Ogata T. Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis. Journal of Human Genetics 53(5), 454-459, 2008.
  15. Fukami M, Wada Y, Okada M, Kato F, Katsumata N, Baba T, Morohashi K, Laporte J, Kitagawa M, Ogata T. Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. Journal of Biological Chemistry 283: 5525-5532, 2008.
  16. Katsumata N, Horikawa R, Tanaka T. Novel missense mutation in the P-box of androgen receptor in a patient with androgen insensitivity syndrome. Endocrine Journal 55(1): 225-228, 2008.

2007

  1. Sato N, Kamachi Y, Kondoh H, Shima Y, Morohashi K, Horikawa R, Ogata T. Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. European Journal of Endocrinology 156(2): 167-171, 2007.
  2. Watanabe M, Yoshida R, Ueoka K, Aoki K, Sasagawa I, Hasegawa T, Sueoka K, Kamitsuji S, Kamatani N, Yoshimura Y, Ogata T. Haplotype analysis of the estrogen receptor 1 gene in male genital and reproductive abnormalities. Human Reproduction 22(5): 1279-1284, 2007.
  3. Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T. Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. Journal of Assisted Reproduction and Genetics 24(4): 131-136, 2007.
  4. Ogata T, Tanaka T, Kagami M. Target height and target range for the Japanese children: revisited. Clinical Pediatric Endocrinology 16(4): 85-87, 2007.
  5. Yamamoto K, Yoshida R, Ogata T. KRAS analysis in 34 PTPN11 mutation negative Noonan syndrome patients. Clinical Pediatric Endocrinology 16(4): 99-101, 2007.
  6. Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. The British Journal of Dermatology 157(6): 1297-9, 2007.
  7. Sekiguchi Y, Hara Y, Matsuoka H, Hayashi Y, Katsumata N, Hirata Y. Sibling cases of Addison's disease caused by DAX-1 gene mutations. Internal Medicine 46(1): 35-39, 2007.
  8. Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M, Miyashita T. U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites. Journal of Human Genetics 52(11): 891-897, 2007.
  9. Shinagawa T, Horikawa R, Isojima T, Naiki Y, Tanaka T, Katsumata N. Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan. Endocrine Journal 54(6): 1021-1025, 2007.
  10. Abe A, Hiraoka M, Shayman JA. A role for lysosomal phospholipase A2 in drug induced phospholipidosis. Drug Metabolism Letters 1(1): 49-53, 2007.
  11. Abe A, Hiraoka M, Shayman JA. The acylation of lipophilic alcohols by lysosomal phospholipase A2. Journal of Lipid Resarch 48(10): 2255-2263, 2007.
  12. Katsumata N. Cholesterol side-chain cleavage enzyme (SCC) deficiency. Clinical Pediatric Endocrinology 16(3): 63-69, 2007.

2006

  1. Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T. Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertility and Sterility 85(3): 787-790, 2006.
  2. Fukami M, Hasegawa T, Horikawa R, Ohashi T, Nishimura G, Homma K, Ogata T. 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. Pediatric Research 59(2): 276-280, 2006.
  3. Fukami M, Kato F, Tajima T, Yokoya S, Ogata T. Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. American Journal of Human Genetics 78(1): 167-170, 2006.
  4. Sato N, Ohyama K, Fukami M, Okada M, Ogata T. Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son. The Journal of Clinical Endocrinology and Metabolism 91(4): 1415-1418, 2006.
  5. Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. American Journal of Medical Genetics A 140(9): 1013-1015, 2006.
  6. Homma K, Hasegawa T, Nagai T, Adachi M, Horikawa R, Fujiwara I, Tajima T, Takeda R, Fukami M, Ogata T. Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone. The Journal of Clinical Endocrinology and Metabolism 91(7): 2643-2649, 2006.
  7. Nagai T, Obata K, Ogata T, Murakami N, Katada Y, Yoshino N, Sakazume S, Tomita Y, Niikawa N. Growth hormone therapy and scoliosis in patients with Prader-Willi syndrome. American Journal of Medical Genetics A 140(15): 1623-1627, 2006.
  8. Ogata T, Udaka T, Fujiwara I, Ogawa E, Sato N, Kosaki K. Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocrine Journal 53(6): 741-743, 2006.
  9. Yamazawa K, Wada Y, Sasagawa I, Aoki K, Ueoka K, Ogata T. Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. Hormone Research 67(2): 73-76, 2006.
  10. Sakai H, Visser R, Ikegawa S, Ito E, Numabe H, Watanabe Y, Mikami H, Kondoh T, Kitoh H, Sugiyama R, Okamoto N, Ogata T, Fodde R, Mizuno S, Takamura K, Egashira M, Sasaki N, Watanabe S, Nishimaki S, Takada F, Nagai T, Okada Y, Aoka Y, Yasuda K, Iwasa M, Kogaki S, Harada N, Mizuguchi T, Matsumoto N. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Americam Journal of Medical Geneteics A 140(16): 1719-1725, 2006.
  11. Kohda E, Yamazaki H, Hisazumi H, Tutumi Y, Ogata T, Shiraga N. Imaging of congenital lipoid adrenal hyperplasia. Radiation Medicine 24(3): 217-219, 2006.
  12. Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S. Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. Journal of Human Gneteics 51(8): 706-10, 2006.
  13. Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T. CXorf6 is a causative gene for hypospadias. Nature Genetics 38(12): 1369-1371, 2006.
  14. Kagami-Takasugi M, Katsumata N, Tanaka T, Tajima T, Fujieda K. Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus. The Journal of Pediatric Endocrinology and Metabolism 19(2): 143-148, 2006.
  15. Katsumata N, Horikawa R, Tanaka T. Replacement of alanine with asparagic acid at position 203 in human steroidogenic acute regulatory protein impairs the ability to enhance steroidogenesis in vitro. Endocrine Journal 53(3): 427-431, 2006.
  16. Saito T, Tachibana K, Shimatsu A, Katsumata N, Hizuka N, Fujieda K, Yokoya S, Tanaka T. Standardization of blood growth hormone levels measured by different kits using a linear structural relationship. Clinical Pediatric Endocrinology 15(3): 79-84, 2006.
  17. Al Kandari H, Katsumata N, Alexander S, Rasoul MA. Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. The Journal of Clinical Endocrinology and Metabolism 91(8): 2821-2826, 2006.
  18. Hayakawa K, Guo L, Terentyeva EA, Li XK, Kimura H, Hirano M, Yoshikawa K, Nagamine T, Katsumata N, Ogata T, Tanaka T. Determination of specific activities and kinetic constants of biotinidase and lipoamidase in LEW rat and Lactobacillus casei (Shirota). Journal of Chromatography B, Analytical Technologies in the Biomedical and Life Sciences 844(2): 240-250, 2006.
  19. Ogata T. Genetics of human growth. Clinical Pediatric Endocrinology 15(2): 45-53, 2006.
  20. Ogata T, Fukami M. Clinical lessons from SHOX mutation research. International Growth Monitor 16(1): 2-6, 2006.
  21. Goto M, Nishimura G, Nagai T, Yamazawa K, Ogata T. Familial Klippel-Feil anomaly and t(5;8)(q35.1;p21.1) translocation. American Journal of Medical Genetics A 140(9): 1013-1015, 2006.
  22. Wada Y, Okada M, Fukami M, Sasagawa I, Ogata T. Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Fertility and Sterility 85(3): 787-790, 2006.

2005

  1. 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. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. The Journal of Clinical Endocrinology and Metabolism 90(1): 414-426, 2005.
  2. Morii T, Ohno Y, Horese H, Kawabe H, Ogata T, Hirano K, Eguchi T, Mruyama T, Kanno Y, Hayashu M, Saito I, Saruta T. Cellular insulin resistance in Epstein-Barr virus-transformed lymphoblasts from young insulin-resistant Japanese men. Metabolism 54(3): 370-375, 2005.
  3. Soneda S, Fukami M, Matsuo N, Hssegawa T, Fujimoto M, Koitabashi Y, Ogata T. Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling. Endocrine Journal 52(1): 83-88, 2005
  4. Yoshida R, Fukami M, Sasagawa I, Hasegawa T, Kamatani N, Ogata T. Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. The Journal of Clinical Endocrinology and Metabolism 90(8): 4716-4721, 2005.
  5. Matsubara K, Yabe H, Ogata T, Yoshida R, Fukuya T. Acute myeloid leukemia in an adult Noonan syndrome patient with PTPN11 mutation. American Journal of Hematology 79(2): 171-172, 2005.
  6. Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T. Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. American Journal of Medical Genetics A 137(1): 72-76, 2005.
  7. Sato N, Hasegawa T, Hori N, Fukami M, Yoshimura Y, Ogata T. Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. Human Reproduction 20(8): 2173-2178, 2005.
  8. Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller R, Ogata T, Raas-Rothshild A, Christine de Blois M, Wilson L, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. American Journal of Medical Genetics A 137(2): 190-198, 2005.
  9. Kagami M, Nishimura G, Okuyama T, Hayashidani M, Takeuchi T, Tanaka S, Ishino F, Kurosawa K, Ogata T. Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. American Journal of Medical Genetics A 138(2): 127-132, 2005.
  10. Wada Y, Okada M, Hasegawa T, Ogata T. Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Endocrine Journal 52(4): 445-448, 2005.
  11. Liu S, Ogata T, Maruyama T, Yoshimura Y, Ishizuka B. Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman. Endocrine Journal 52(6): 781-784, 2005.
  12. Ogata T, Yoshida R. PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes. Pediatric Endocrinology Reviews 2(4): 669-674, 2005.

2004

  1. 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, Tchibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. 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. The Journal of Clinical Endocrinology and Metabolism 89(3): 1079-1088, 2004.
  2. Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T. Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. Endocrine Journal 51(2): 197-200, 2004.
  3. Kosaki K, Sato S, Hasegawa T, Matsuo N, Suzuki T, Ogata T. Premature ovarian failure in a female with proximal symphalangism and Noggin mutation. Fertility and Sterility 81(4): 1137-1139, 2004.
  4. Komada F, Sekine T, Inatomi J, Enomoto A, Endou H, Ota T, Matsuyama T, Ogata T, Ikeda M, Awazu M, Muroya K, Kmimaki I, Igarashi T. The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. Pediatric Nephrology 19(7): 728-733, 2004.
  5. Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T. Genitourinary phenotype in XX patients with distal 9p monosomy. Molecular Genetics and Metabolism 82(2): 173-179, 2004.
  6. Yoshida R, Miyata M, Nagai T, Yamazaki T, Ogata T. A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. American Journal of Medical Genetics 128A(1): 63-66, 2004.
  7. Ishii T, Sasaki G, Sasaki R, Sato S, Matsuo N, Hasegawa T, Ogata T. Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. Journal of Urology 172(1): 319-324, 2004.
  8. Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. American Journal of Medical Genetics A 128(2): 214-216, 2004.
  9. 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. Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. The Journal of Clinical Endocrinology and Metabolism 89(7): 3359-3364, 2004.
  10. Watanabe M, Sueoka K, Sasagawa I, Nakabayashi A, Yoshimura Y, Ogata T. Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins. Fertility and Sterility 82(3): 1067-1071, 2004.
  11. Yoshida R, Nagai T, Hasegawa T, Kinoshita E, Tanaka T, Ogata T. Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. American Journal of Medical Genetics A 130(4): 432-434, 2004.
  12. Hasegawa T, Fukami M, Sato N, Sasaki G, Fukutani K, Morohashi K, Ogata T. Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1. The Journal of Clinical Endocrinology and Metabolism 89(12): 5930-5935, 2004.
  13. Ogata T, Fukami M. Clinical features in SHOX haploinsufficiency: diagnostic and therapeutic implications. Growth, Genetics & Hormones 20(2): 17-23, 2004.

2003

  1. Nakabayashi A, Sueoka K, Matsuda N, Asada H, Tanigaki R, Sato K, Tajima H, Ogata T, Kuji N, Yoshimura Y. Incidental deviation of short and long CAG repeats in the androgen receptor gene for Japanese male infertility. Reproductive Medicine and Biology 2(4): 145-150, 2003.
  2. Fukami M, Matsuo N, Hasegawa T, Sato S, Ogata T. Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function. European Journal of Endocrinology 149(4): 337-341, 2003.
  3. Kurotaki N, Harada N, Shimokawa O, Miyake, N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng J-F, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Human Mutation 22(5): 378-387, 2003.
  4. Sasaki G, Ogata T, Ishii T, Kosaki K, Hasegawa T, Sato S, Homma K, Takahashi T, Matsuo N. Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. Journal of Clinical Endocrinology and Metabolism 88(7): 3431-3436, 2003.
  5. Ogata T, Sato S, Hasegawa Y, Kosaki K. Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features. Endocrine Journal 50(3): 319-324, 2003.
  6. Sasaki R, Inamo Y, Saitoh M, Hasegawa T, Kinoshita E, Ogata T. Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL. Endocrine Journal 50(3): 303-307, 2003.
  7. Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazune S, Fukushima Y, Naritomi K. Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. The Journal of Medical Genetics 40(4): 285-289, 2003.
  8. Sasaki G, Nakagawa K, Hshiguchi A, Hasegawa T, Ogata T, Murai M. Giant seminoma in a patient with 5 alpha-reductase type 2 deficiency. The Journal of Urology 169(3): 1080-1081, 2003.
  9. Ishikawa M, Satou N, Kikuchi T, Uchiyama M, Katsumata N, Tanaka T. Serum levels of 20-kilodalton human growth hormone (GH) in children with simple obesity. Clinical Pediatric Endocrinology 12(1): 49-56, 2003.
  10. Hayakawa K, Guo L, Terentyeva EA, Li KK, Kimura H, Hirano M, Yoshikawa K, Yoshinaga T, Nagamine T, Katsumata N, Tanaka T. Size-exclusion chromatography of biological samples which contain extremely alkaline proteins. Journal of Biochemical and Biophysical Methods 56(1-3): 153-163, 2003.
  11. Tanaka N, Katsumata N, Horikawa R, Tanaka T. The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocrine Journal, 50(1): 69-75, 2003.

2002

  1. Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, Okamoto N, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y. The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenetics and Genome Research 99(1-4): 276-84, 2002.
  2. Suzuki Y, Sasagawa I, Itoh K, Ashida J, Muroya K, Ogata T. Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia. Fertility and Sterility 78(6): 1341-1343, 2002.
  3. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nature Genetics 32(3): 359-369, 2002.
  4. Kosaki K, Suzuki T, Muroya K, Hesegawa T, Sato S, Mastuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. The Journal of Clinical Endocrinology and Metabolism 87(8): 3529-3533, 2002.
  5. Ogata T, Inokuchi M, Ogawa M. Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency. European Journal of Endocrinology 147(2): 249-254, 2002.
  6. Suzuki Y, Sasagawa I, Itoh K, Ashida J, Ogata T. 5Alpha-reductase type 2 genes in Japanese males do not appear to be associated with cryptorchidism. Fertility and Sterility 78(2): 330-334, 2002.
  7. Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N. Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. American Journal of Medical Genetics A 110(4): 365-369, 2002.
  8. Muroya K, Yamamoto K, Fukushima Y, Ogata T. Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother: implication for ring chromosome formation. American Journal of Medical Genetics A 110(4): 332-337, 2002.
  9. Itoh K, Sasagawa I, Suzuki Y, Ashida J, Nakada T, Ogata T. Mutation screening for the 5alpha-reductase type 2 gene in Japanese men with idiopathic azoospermia. Fertility and Sterility 77(5): 1079-1080, 2002.
  10. Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genetics 23(1): 43-47, 2002.
  11. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. The Journal of Clinical Endocrinology and Metabolism 87(3): 1402-1406, 2002.
  12. Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. The Journal of Clinical Endocrinology and Metabolism 87(3): 1390-1394, 2002.
  13. Muroya K, Nishimura G, Douya H, Hasegawa T, Ogata T. Diaphyseal medullary stenosis with malignant fibrous histiocytoma: further evidence for loss of heterozygosity involving 9p21-22 in tumor tissue. Genes Chromosomes and Cancer 33(3): 326-328, 2002.
  14. Kosho T, Uemura T, Tanimura M, Ohashi H, Muroya K, Ogata T. Refined mapping of the gene for otopalatodigital syndrome type I. Journal of Medical Genetics 39(2): Electric Letter 7, 2002.
  15. Fujita H, Kosaki R, Yoshihashi H, Ogata T, Tomita M, Takahashi T, Matsuo N, Kosaki K. Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. Teratology 65(1): 10-18, 2002.
  16. Nimura A, Katsumata N, Yamauchi S, Tanaka T. Serum levels of free insulin-like growth factor (IGF)-Ⅰ in normal children; relation to total IGF-Ⅰ, IGF binding protein (IGFBP)-1, IGFBP-3, and acid labile subunit (ALS). Clinical Pediatric Endocrinology 11(Suppl. 17): 45-46, 2002.
  17. Katsumata N, Ohtake M, Hojo T, Ogawa E, Hara T, Sato N, Tanaka T. Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. The Journal of Clinical Endocrinology and Metabolism 87(8): 3808-3813, 2002.
  18. Takahashi S, Minowada S, Tomita K, Katsumata N, Tanaka T, Kitamura T. Massive adrenocortical adenoma following long-term treatment of 21-hydroxylase deficiency. The Journal of Urology 167(3): 1391-1392, 2002.
  19. Katsumata N, Hirose H, Kagami M, Tanaka T. Analysis of the AAAS gene in a Japanese patient with triple A syndrome. Endocrine Journal 49(1): 49-53, 2002.

  1. 2001

    Yoshizawa A, Ogata T, Yokoya S. Mental retardation in a Turner girl with an active ring X chromosome missing XIST. Clinical Pediatric Endocrinology 10(2): 131-135, 2001.
    Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K. Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. The Journal of Clinical Endocrinology and Metabolism 86(11): 5498-5508, 2001.
    Ogata T, Matsuo N, Saito M, Fukushima Y, Nose O, Miharu N, Uehara S, Ishizuka B. FISH analysis for apparently simple terminal deletions of the X chromosome: identification of hidden structural abnormalities. American Journal of Medical Genetics A 104(4): 307-311, 2001.
    Ogata T, Muroya K, Ohashi H, Mochizuki H, Hasegawa T, Kaji M. Female gonadal development in XX patients with distal 9p monosomy. European Journal of Endocrinology 145(5): 613-617, 2001.
    Ishii T, Sato S, Kosaki K, Sasaki G, Muroya K, Ogata T, Matsuo N. Micropenis and the AR Gene: mutation and CAG repeat-length analysis. The Journal of Clinical Endocrinology and Metabolism 86(11): 5372-5378, 2001.
    Suzuki Y, Sasagawa I, Ashida J, Nakada T, Muroya K, Ogata T. Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism. Fertility and Sterility 76(4): 834-836, 2001.
    Tanaka Y, Sugita K, Saito T, Muroya K, Ishikawa S, Awazu M, Ogata T. Impaired urinary water excretion in a three-generation family. Pediatric Nephrology 16(10): 820-822, 2001.
    Boucher CA, Sargent CA, Ogata T, Affara NA. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. Journal of Medical Genetics 38(9): 591-598, 2001.
    Sasagawa I, Suzuki Y, Ashida J, Nakada T, Muroya K, Ogata T. CAG repeat length analysis and mutation screening of the androgen receptor gene in Japanese men with idiopathic azoospermia. Journal of Andrology 22(5): 804-808, 2001.
    Kosaki K, Shimazaki N, Fukushima H, Hara M, Ogata T, Matsuo N. Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). American Journal of Human Genetics 69(3): 664-665, 2001.
    Suzuki Y, Sasagawa I, Tateno T, Ashida J, Nakada T, Muroya K, Ogata T. Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter's syndrome patients with and without spermatogenesis. Human Reproduction 16(8): 1653-1656, 2001.
    Preiss S, Argentaro A, Clayton A, John A, Jans DA, Ogata T, Nagai T, Barroso I, Schafer AJ, Harley VR. Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation. The Journal of Biological Chemistry 276(30): 27864-27872, 2001.
    Ogata T, Muroya K, Ishii T, Suzuki Y, Nakada T, Sasagawa I. Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene. Clinical Endocrinology 54(6): 835-838, 2001.
    Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold GA. Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. Endocrine Journal 48(3): 317-322, 2001.
    Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. Journal of Medical Genetics 38(6): 374-380, 2001.
    Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T, Ogata T. Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. Molecular Human Reproduction 7(5): 409-413, 2001.
    Ogata T, Matsuo M, Muroya K, Koyama Y, Fukutani K. 47,XXX male: A clinical and molecular study. American Journal of Medical Genetics A 98(4): 353-356, 2001.
    Katsumata N, Matsuo S, Sato N, Tanaka T. A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency. Growth Hormone & IGF Research 11(6): 378-383, 2001.
    Katsumata N, Satoh M, Mikami A, Mikami S, Nagashima-Miyokawa A, Sato N, Yokoya S, Tanaka T. New compound heterozygous mutation in the CYP17 gene in a 46,XY girl with 17 alpha-hydroxylase/17,20-lyase deficiency. Hormone Research 55(3): 141-146, 2001.
    Hayakawa K, Yoshinaga T, Hirano M, Yoshikawa K, Katsumata N, Tanaka T, Nagamine T. Protein determination by high-performance gel-permeation chromatography: applications to human pancreatic juice, human bile and tissue homogenate. Journal of Chromatgraphy B 754(1): 65-76, 2001.

2000

  1. Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney International 58(6): 2281-2290, 2000.
  2. Matsuo M, Muroya K, Adachi M, Tachibana K, Asakura Y, Nakagomi Y, Hanaki K, Yokoya S, Yoshizawa A, Igarashi Y, Hanew K, Matsuo N, Ogata T. Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development. Human Genetics 107(5): 433-439, 2000.
  3. Matsuo N, Anzo M, Sato S, Ogata T, Kamimaki T. Testicular volume in Japanese boys up to the age of 15 years. European Journal of Pediatrics 159(11): 843-845, 2000.
  4. Sasagawa I, Suzuki Y, Tateno T, Nakada T, Muroya K, Ogata T. CAG repeat length of the androgen receptor gene in Japanese males with cryptorchidism. Molecular Human Reproduction 6(11): 973-975, 2000.
  5. Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. American Journal of Medical Genetics A 94(4): 300-305, 2000.
  6. Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. The Journal of Clinical Endocrinology and Metabolism 85(9): 3094-3100, 2000.
  7. Ishii T, Ogata T, Sasaki G, Sato S, Kinoshita E, Matsuo N. Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. Clinical Endocrinology 53(3): 389-392, 2000.
  8. Ogata T, Matsuo N, Hiraoka N, Hata J. X-linked lissencephaly with ambiguous genitalia: delineation of further case. American Journal of Medical Genetics A 94(2): 174-176, 2000.
  9. Tateno T, Sasagawa I, Yoshida J, Nakada T, Ogata T. Absence of Y chromosome microdeletions involving the DAZ (deleted in azoospermia) and RBM (ribonucleic acid-binding motif) genes in patients with chordee without hypospadias. Archives of Andrology 45(1): 9-12, 2000.
  10. Fukami M, Kirsch S, Schiller S, Richter A, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. American Journal of Human Genetics 67(3): 563-573, 2000.
  11. Ogata T, Kosho T, Wakui K, Fukushima Y, Yoshimoto M, Miharu N. Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature. The Journal of Clinical Endocrinology and Metabolism 85(8): 2927-2930, 2000.
  12. Ishii T, Suzuki Y, Ando N, Matsuo N, Ogata T. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. The Journal of Clinical Endocrinology and Metabolism 85(8): 2922-2926, 2000.
  13. Kirsch S, Weis B, De Ross M, Ogata T, Lombardi G, Rappold GA. FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY. Journal of Medical Genetics 37(8): 593-599, 2000.
  14. Tateno T, Sasagawa I, Yoshida J, Nakada T, Ogata T. Absence of Y-chromosome microdeletions in patients with isolated hypospadias. Fertility and Sterility 74(2): 399-400, 2000.
  15. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. American Journal of Human Genetics 67(2): 476-482, 2000.
  16. Ogata T, Wakui K, Kosho T, Muroya K, Yamanouchi Y, Takano T, Fukushima Y, Rappold G, Suzuki Y. Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation. American Journal of Medical Genetics A 92(4): 256-259, 2000.
  17. Adachi M, Tachibana K, Asakura Y, Muroya K, Ogata T. Del(X)(p21.1) in a mother and two daughters: genotype-phenotype correlation of Turner features. Human Genetics 106(3): 306-310, 2000.
  18. Matsuo M, Muroya K, Nanao K, Hasegawa Y, Terasaki H, Kosaki K, Ogata T. Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns. American Journal of Medical Genetics A 91(4): 267-272, 2000.
  19. Sato N, Ishikawa M, Nimura A, Katsumata N, Horikawa R, Tanae A, Tanaka T, Matuo N, Seino Y, Fujieda K, Yokoya S, Tachibana K, Shimizu N. Study Group of GH Treatment in IUGR: Growth hormone (GH) binding protein in children with intrauterine growth retardation treated with high dose GH. Clinical Pediatric Endocrinology 9(Suppl. 14): 55-61, 2000.
  20. Shinagawa T, Katsumata N, Sato N, Horikawa T, Tanae A, Tanaka. Japanese familial patients with male-limited precocious puberty. Endocrine Journal 47(6): 777-782, 2000.
  21. Ishikawa M, Nimura A, Horikawa R, Katsumata N, Arisaka O, Wada M, Honjo M, Tanaka T. A novel specific bioassay for serum human growth hormone. The Journal of Clinical Endocrinology and Metrabolism 85(11): 4274-4279, 2000.
  22. Tanae A, Katsumata N, Sato N, Horikawa R, Tanaka K. Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty. Endocrine Journal 47(5): 629-634, 2000.
  23. Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K. Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. Pediatric Research 48(4): 536-540, 2000.
  24. Ishikawa M, Tachibana T, Kamioka T, Horikawa R, Katsumata N, Tanaka T. Comparison of the somatogenic action of 20 kDa- and 22 kDa-human growth hormones in spontaneous dwarf rats. Growth Hormone & IGF Research 10(4): 199-206, 2000.
  25. Kuno T, Fujita I, Miyazaki S, Katsumata N. Markers for bone metabolism in a long-lived case of thanatophoric dysplasia. Endocrine Journal 47(Suppl.): S141-S144, 2000.
  26. Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T. Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. Endocrine Journal 47(Suppl.): S121-S124, 2000.
  27. Sato N, Nimura A, Horikawa R, Katsumata N, Tanae A, Tanaka T. Bone mineral density in Turner syndrome: relation to GH treatment and estrogen treatment. Endocrine Journal 47(Suppl.): S115-S119, 2000.
  28. Nimura A, Katsumata N, Horikawa R, Tanae A, Tanaka T. Acid-labile subunit (ALS) measurements in children. Endocrine Journal 47(Suppl.): S111-S114, 2000.
  29. Horikawa R, Tachibana T, Katsumata N, Ishikawa H, Tanaka T. Regulation of pituitary growth hormone-secretagogue and growth hormone-releasing hormone receptor RNA expression in young Dwarf rats. Endocrine Journal 47(Suppl.): S53-S56, 2000.
  30. Shima M, Tanae A, Miki K, Katsumata N, Matsumoto S, Nakajima S, Harada T, Shinagawa T, Tanaka T, Okada S. Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia. European Journal of Endocrinology 142(3): 274-279, 2000.

1999-1995

  1. Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. The Journal of Clinical Endocrinology and Metabolism 84(12): 4613-4621, 1999.
  2. Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T. Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature. American Journal of Medical Genetics A 86(1): 44-50, 1999.
  3. Yamada S, Tomura H, Nishigori H, Sho K, Mabe H, Iwatani N, Takumi T, Kito Y, Moriya N, Muroya K, Ogata T, Onigata K, Morikawa A, Inoue I, Takeda J. Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins. Diabetes 48(3): 645-648, 1999.
  4. Muroya K, Kosho T, Matsuo M, Ogata T. Female carriers of Xp22.3 deletion including MRX locus. American Journal of Medical Genetics A 84(4): 384-385, 1999.
  5. Muroya K, Kinoshita E, Kamimaki T, Matsuo N, Yorifugi T, Ogata T. Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11. Journal of Medical Genetics 36(3): 187-191, 1999.
  6. Ishizuka B, Kudo Y, Amemiya A, Yamada H, Matsuda T, Ogata T. Anti-nuclear antibodies in patients with premature ovarian failure. Human Reproduction 14(1): 70-75, 1999.
  7. Muroya K, Ishii T, Nakahori Y, Asakura Y, Tachibana K, Masuno M, Imaizumi K, Tanaka Y, Kawada Y, Yukizane S, Ogata T. Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients. Genes Chromosomes and Cancer 25(1): 40-45, 1999.
  8. Katsumata N, Kawada Y, Yamamoto Y, Noda M, Nimura A, Horikawa R, Tanaka T. A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. The Journal of Clinical Endocrinology and Metabolism 84(11): 3983-3987, 1999.
  9. Yokouchi K, Horikawa R, Katsumata N, Ikema S, Yamazaki H, Tanaka T, Tanae A. A case with isolated growth hormone deficiency (IGHD) type 1A. Clinical Pediatric Endocrinology 8(Suppl. 12): 115-118, 1999.
  10. Satoh-Ohnami N, Katsumata N, Honjo S, Horikawa R, Tanae A, Satoh M, Tanaka T. Comparison of bone age estimation methods with a new computer-assisted system and the TW2 method. Clinical Pediatric Endocrinology 8(Suppl. 12): 71-74, 1999.
  11. Hayakawa K, Hirano M, Yoshikawa K, Katsumata N, Tanaka T. Separation of phenylthiohydantoin-amino acids by temperature-controlled reversed-phase high-performance liquid chromatography. Journal of Chromatgraphy A 846(1-2): 73-82, 1999.
  12. Yamamoto Y, Katsumata N, Koga J, Tanaka T. Selective amplification of exons 3 and 8 of the human growth hormone receptor (hGHR) gene based on newly identified intron sequences. Endocrine Journal, 46: 415-419, 1999
  13. Tanaka T, Satoh M, Yasunaga T, Horikawa R, Tanae A, Katsumata N, Tachibana K, Nose O, Hibi I. When and how to combine growth hormone with a luteinizing hormone-releasing hormone analogue. Acta Paediatrica 88(Suppl. 428): 85-88, 1999.
  14. Sasaki G, Ogata T, Sato S, Hasegawa Y, Matsuo N. Normally sustained growth in a boy with panhypopituitarism: a case report. Clinical Pediatric Endocrinology 7(2): 93-98, 1998.
  15. Ogata T, Hasegawa T, Tamai S, Sato S, Hasegawa Y, Matsuo N. Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. Hormone Research 50(3): 190-192, 1998.
  16. Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, Ogata T, Hoo JJ, Pinsky L, Gimelli G, Pasztor L, Goodfellow P. Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. American Journal of Human Genetics 63(3): 905-908, 1998.
  17. Ogata T, Muroya K, Tsukahara M. Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family. American Journal of Medical Genetics A 79(2): 153-154, 1998.
  18. Ohro Y, Suzuki Y, Tsutsumi Y, Ogata T. Female external genitalia, absent uterus, and probable agonadism in a 46,XY infant with bilateral upper amelia. Clinical Genetics 54(1): 52-55, 1998.
  19. Ogata T, Wakui K, Muroya K, Ohashi H, Matsuo N, Brown DM, Ishii T, Fukushima Y. Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern. Human Genetics 103(1): 51-56, 1998.
  20. Nimura A, Horikawa R, Katsumata N, Tanae A, Tanaka T. Bone mineral density in patients with gonadal dysgenesis. Clinical Pediatric Endocrinology 7(Suppl. 11): 113-115, 1998.
  21. Satoh M, Yokoya S, Hashiguchi R, Katsumata N. Long term follow-up of a 46,XY phenotypic girl with 17alpha-hydroxylase deficiency treated with alternate-day dexamethasone. Endocrine Journal 45(3): 285-290, 1998.
  22. Yasunaga N, Furukawa S, Katsumata N, Horikawa R, Tanaka T, Tanae A, Hibi I. Nutrition related hormonal changes in obese children. Endocrine Journal 45(2): 221-227, 1998.
  23. Katsumata N, Kuno T, Miyazaki S, Shoko M, Nagashima-Miyokawa A, Horikawa R, Tanaka T. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia. Endocrine Journal 45(Suppl.): S171-S174, 1998.
  24. Horikawa R, Tanaka T, Katsumata N, Tanae A. The regulatory effect of growth hormone on growth hormone-binding protein in human serum. Endocrine Journal 45(Suppl.): S113-S115, 1998.
  25. Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Human Mutation Suppl. 1: S304-S307, 1998.
  26. De Rosa M, De Brasi D, Zarrilli S, Paesano L, Ptvonello R, D'Agostino A, Longobardi S, Merola B, Lupoli G, Ogata T, Lombardi G. Short stature and azoospermia in a patient with Y chromosome long arm deletion. Journal of Endocrinological Investigation 20 (10): 623-628, 1997.
  27. Sakura N, Nishimura S, Matsumoto T, Ohsaki M, Ogata T. Allergic disease as an association of steroid sulphatase deficiency. Journal of Inherited Metabolic Disease 20(6): 807-810, 1997.
  28. Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A, Yoshino M, Kato H, Ogata T, Adachi M. P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome. Human Mutation 10(4): 326-327, 1997.
  29. Ishizuka B, Kudo Y, Amemiya A, Ogata T. Ovulation induction in a woman with premature ovarian failure resulting from a partial deletion of the X chromosome long arm, 46,X,del(X)(q22). Fertility and Sterility 68(5): 931-934, 1997.
  30. Ogata T, Matsuo N. The Y specific growth gene(s): how does it promote stature? Journal of Medical Genetics 34(4): 323-325, 1997.
  31. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genetics 16(1): 54-63, 1997.
  32. Aya M, Ogata T, Sakaguchi A, Sato S, Matsuo N. Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study. Hormone Research 47(3): 121-125, 1997.
  33. Rao E, Weiss B, Fukami M, Mertz A, Meder J, Ogata T, Heinrich U, Garcia-Heras J, Schiebel K, Rappold GA. FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. Human Genetics 100(2): 236-239, 1997.
  34. Ogata T, Muroya K, Matsuo N, Fukushima Y, Suzuki Y. Impaired male sex development in an infant with molecularly defined partial 9p monosomy: implication for a testis forming gene(s) on 9p. Journal of Medical Genetics 34(4): 331-334, 1997.
  35. Ogata T, Hasegawa T, Matsuo N. Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata. Human Genetics 99(2): 290, 1997.
  36. Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T. A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. The Journal of Clinical Endcrinology and Metabolism 82: 4054-4058, 1997.
  37. Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital adrenal lipoid hyperplasia. Hum Mut, Mutation in Brief#111, On-line, 1997.
  38. Nimura A, Ikema S, Goto M, Ishikawa M, Kitanaka S, Katsumata N, Tanae A, Hibi I, Tanaka T. Bone mineral density in children with GH deficiency. Clinical Pediatric Endocrinology 6(Suppl. 9): 95-98, 1997.
  39. Hayakawa K, Masuko M, Mineta M, Yoshikawa K, Yamauchi K, Hirano M, Katsumata N, Tanaka T. Serum protein determination by high-performance gel-permeation chromatography. Journal of Chromatography B 696(1): 19-23, 1997.
  40. Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Detection of the missense mutation A218V in the steroidogenic acute regulatory protein gene of a Japanese patient with congenital lipoid adrenal hyperplasia. Clinical Pediatric Endocrinology 6(Suppl. 9): 33-37, 1997.
  41. Katsumata N, Tanae A, Shinagawa T, Nagashima-Miyokawa A, Shimizu M, Yasunaga T, Tanaka T, Hibi I. Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Endocrine Journal 44(3): 441-446, 1997.
  42. Zimering MB, Katsumata N, Friesen HG, Eng J, Riley DJ, Thakker-Varia S, Marx SJ, Ezzat S. Fibroblast growth factor-like autoantibodies in plasma from patients with multiple endocrine neoplasia type 1 and prolactinoma. Annals of the New York Academy of Science 815: 520-523, 1997.
  43. Terentyeva EA, Hayakawa K, Tanae A, Katsumata N, Tanaka T, Hibi I. Urinary biotinidase and alanine excretion in patients with insulin-dependent diabetes mellitus. European Journal of Clinical Chemistry and Clinical Biochemistry 35(1): 21-24, 1997.
  44. Matsuo S, Tokunaga Y, Kizaki Z, Inoue F, Kinugasa A, Sawada T, Ogata T, Hasegawa Y. A case of XYY syndrome with short stature. Endocrine Journal 43(Suppl.): S137-S139, 1996.
  45. Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N. A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia? European Journal of Pediatrics 155(12): 1040-1042, 1996.
  46. Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Fukushima Y. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. American Journal of Medical Genetics A 64(4): 583-587, 1996.
  47. Hasegawa T, Ogata T, Hasegawa Y, Honda M, Nagai T, Fukushima Y, Matsuo N. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. Human Genetics 97(5): 564-567, 1996.
  48. Yasunaga T, Horikawa R, Tanaka T, Katsumata N, Tanae A, Hibi I. Serum Growth-Hormone-Binding Protein and Growth during Treatment of Children with Hyperthyroidism and Hypotyroidism. Clinical Pediatric Endocrinology 5(1): 37-44, 1996.
  49. Yasunaga T, Tanaka T, Katsumata N, Tanae A, Hibi I. Diurnal variation of serum insulin-like growth factor binding protein-1 in three boys and fasting fasting insulin-like growth factor binding protein-1 levels in normal children. Clinical Pediatric Endocrinology 5(Suppl. 8): 99-102, 1996.
  50. Ishikawa M, Ishikawa N, Kitanaka S, Yasunaga T, Katsumata N, Tanaka T, Tanae A, Hibi I. Case report on a boy with hyperthyroidism due to inappropriate secretion of thyrotropin. Clinical Pediatric Endocrinology 5(Suppl. 7): 74-75, 1996.
  51. Ishikawa N, Ishikawa M, Kitanaka S, Tanae A, Hibi I, Yasunaga T, Katsumata N, Tanaka T. Analysis of height velocity in twenty girls with premature thelarche. Clin Pediatr. Clinical Pediatric Endocrinology 5(Suppl. 7): 48-51, 1996.
  52. Yoshikawa K, Hayakawa K, Katsumata N, Tanaka T, Kimura T, Yamauchi K. High-performance liquid chromatographic determination of lipoamidase (lipoyl-X hydrolase) activity with a novel substrate, lipoyl-6-aminoquinoline. Journal of Chromatography B 679(1-2): 41-47, 1996.
  53. Ogata T, Yoshizawa A, Muroya K, Matsuo N, Fukushima Y, Yokoya S. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). Journal of Medical Genetics 32(10): 831-834, 1995.
  54. Ogata T, Tomita K, Hida A, Matsuo N, Nakahori Y, Nakagome Y. Chromosomal localisation of a Y specific growth gene(s). Journal of Medical Genetics 32(7): 572-575, 1995.
  55. Fukami M, Sato S, Ogata T, Matsuo N. Lack of mutations in the P450scc gene in six Japanese patients with congenital lipoid adrenal hyperplasia. Clinical Pediatric Endocrinology 4(1): 39-46, 1995.
  56. Ogata T, Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Human Genetics 95(6): 607-629, 1995.
  57. Muroya K, Ogata T, Rappold G, Klink A, Nakahori Y, Fukushima Y, Aizu K, Matsuo N. Refinement of the locus for X-linked recessive chondrodysplasia punctata. Human Genetics 95(5): 577-580, 1995.
  58. Katsumata N, Yasunaga T, Tanaka T, Tanae A, Hibi I. G to A transition at nucleotide 1,138 of the cDNA of fibroblast growth factor receptor 3 gene in a Japanese girl with achondroplasia. Clinical Pediatric Endocrinology 4(Suppl. 6): 99-101, 1995.
  59. Chakraborty C, Sharma S, Katsumata N, Murphy LJ, Schroedter IC, Robertson MC, Shiu RPC, Friesen HG. Plasma clearance, tissue uptake and expression of pituitary peptide 23/pancreatitis-associated protein in the rat. The Journal of Endocrinology 145(3): 461-469, 1995.
  60. Irie Y, Tatsumi K, Kusuda S, Kawawaki H, Boyages SC, Nose O, Ichiba Y, Katsumata N, Amino N. Screening for PIT1 abnormality by PCR direct sequence method. Thyroid, 5: 207-211, 1995.
  61. Chakraborty C, Katsumata N, Myal Y, Schroedter IC, Brazeau P, Murphy LJ, Shiu RPC, Friesen HG. Age-related changes in peptide-23/pancreatitis-associated protein and pancreatic stone protein/reg gene expression in the rat and regulation by growth hormone-releasing hormone. Endocrinology 136(5): 1843-1849, 1995.
  62. Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I. A novel missense mutation in the typeⅡ 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency. Hum Mol Genet, 4: 745-746, 1995.
  63. Katsumata N, Chakraborty C, Myal Y, Schroedter IC, Murphy LJ, Shiu RPC, Friesen HG. Molecular cloning and expression of peptide 23, a growth hormone-releasing hormone-inducible pituitary protein. Endocrinology 136(4):1332-1339, 1995.
  64. Chakraborty C., Vrontakis M, Molnar P, Schroedtler IC, Katsumata N, Murphy LJ, Shiu RPC, Friesen HG. Expression of pituitary peptide 23 in the rat uterus: regulation by estradiol. Molecular and Cellular Endocrinology 108(1-2): 149-154, 1995.

1994-

  1. Ogata T, Matsuo N. Testis determining gene(s) on the X chromosome short arm: chromosomal localisation and possible role in testis determination. Journal of Medical Genetics 31(4): 349, 1994.
  2. De Felice C, Tanaka T, Hayakawa K, Itoh K, Watanabe T, Katsumata N, Hibi I. Urinary prolactin excretion in children with renal disease. Acta Pediatrica Japonica 36(6): 623-626, 1994.
  3. Zimering MB, Riley DJ, Thakker-Varia S, Walker AM, Lakshminaryan V, Shah R, Brandi ML, Ezzat S, Katsumata N, Friesen HG, Marx SJ, Eng J. Circulating fibroblast growth factor-like autoantibodies in two patients with multiple endocrine neoplasia type 1 and prolactinoma. The Journal of Clinical Endocrinology and Metabolism 79(6): 1546-1552, 1994.
  4. Katsumata N, Tachibana K, Maesaka H, Nakamura K, Suwa S. Adrenarche in childhood: I. Development of a new enzyme-linked immunosorbent assay (ELISA) for dehydroepiandrosterone sulfate (DHEAS) and determination of serum DHEAS levels in normal children. Clinical Pediatric Endocrinology 3(1): 97-104, 1994.
  5. Horikawa R, Tanaka T, Katsumata N, Satoh M, Kokaji M, Kitanaka S, Tanae A, Hibi I. Growth hormone (GH), insulin-like growth factor I (IGF-I), GH-binding protein (GHBP) and nutritional improvement in a girl with deprivation syndrome. Clinical Pediatric Endocrinology 3(Suppl. 5): 173-175, 1994.
  6. Horikawa R, Tanaka T, Katsumata N, Satoh M, Nagashima A, Watanabe T, Kokai Y, Tanae A, Hibi I. Clinical significance of growth hormone-binding protein measurements in children. Proceedings of the Society for Experimental Biology and Medicine 206(3): 320-323, 1994.
  7. Horikawa R, Tanaka T, Kokai Y, Katsumata N, Nagashima A, Satoh M, Tanae A, Hibi I. Growth hormone-binding protein measurements in normal children and children with short stature using ligand-mediated immunofunctional assay. Clinical Pediatric Endocrinology 3(1): 35-43, 1994.
  8. Ogata T, Tyler-Smith C, Purvis-Smith S, Turner G. Chromosomal localisation of a gene(s) for Turner stigmata on Yp. Journal of Medical Genetics 30(11): 918-922, 1993.
  9. Ogata T, Matsuo N. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height. Human Genetics 91(6): 551-562, 1993.
  10. Fechner PY, Marcantonio SM, Ogata T, Rosales TO, Smith KD, Goodfellow PN, Migeon CJ, Berkovitz GD. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. The Journal of Clinical Endocrinology and Metabolism 76(5): 1248-1253, 1993.
  11. Ogata T, Goodfellow P, Petit C, Maroteaux P, Matsuo N. Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus. American Journal of Medical Genetics A 45(1): 101-104, 1993.
  12. Zimering MB, Katsumata N, Sato Y, Brandi ML, Aurbach GD, Marx SJ, Friesen, HG. Increased basic fibroblast growth factor in plasma from multiple endocrine neoplasia type 1: relation to pituitary tumor. The Journal of Clinical Endocrinology and Metabolism 76(5): 1182-1187, 1993.
  13. Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P. Chromosomal localisation of a pseudoautosomal growth gene(s). Journal of Medical Genetics 29(9): 624-628, 1992.
  14. Ogata T, Matsuo N. Comparison of adult height between patients with XX and XY gonadal dysgenesis: support for a Y specific growth gene(s). Journal of Medical Genetics 29(8): 539-541, 1992.
  15. Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N. Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. Journal of Medical Genetics 29(7): 455-459, 1992.
  16. Ogata T, Hawkins JR, Taylor A, Matsuo N, Hata J, Goodfellow PN. Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. Journal of Medical Genetics 29(4): 226-230, 1992.
  17. Yamamoto T, Katsumata N, Tachibana K, Friesen HG, NagyGI. Distribution of a novel peptide in the anterior pituitary, gastric pyloric gland, and pancreatic islets of rat. The Journal of Histochemistry and Cytochemistry 40(2): 221-229, 1992.
  18. Ogata T, Matsuo N, Nishimura G, Hajikano H. Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification. American Journal of Medical Genetics A 36(2): 226-231, 1990.
  19. Ogata T, Matsuo N, Shimizu N. A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male. American Journal of Medical Genetics A 35(2): 241-244, 1990.
  20. Murphy PR, Katsumata N, Sato Y, Too CKL, Friesen HG. In-gel ligand blotting with 125I-heparin for detection of heparin-binding growth factors. Analytical Biochemistry 187(1): 197-201, 1990.
  21. Zimering MB, Brandi ML, DeGrange DA, Marx SJ, Streeten E, Katsumata N, Murphy PR, Sato Y, Friesen HG, Aurbach GD. Circulating fibroblast growth factor-like substance in familial multiple endocrine neoplasia type 1. The Journal of Clinical Endocrinology and Metabolism 70(1): 149-154, 1990.
  22. Ogata T, Matsuo N, Saito M, Prader A. The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia. Helvetica Paediatrica Acta 43(5-6): 531-538, 1989.
  23. Tsuzaki S, Matsuo N, Ogata T, Osano M. Lack of linkage between height and weight and age at menarche during the secular shift in growth of Japanese children. Annals of Human Biology 16(5): 429-436, 1989.
  24. Matsuo N, Ogata T. Characteristics of gonadal dysfunction in congenital lipoid adrenal hyperplasia. Acta Paediatrica Japonica 30(Suppl.): 243, 1988.
  25. Ogata T, Matsuo N, Ishikawa K, Araki K. Effect of cornstarch formula in an infant with type I glycogen storage disease. Acta Paediatrica Japonica 30(5): 547-552, 1988.
  26. Ogata T, Ishikawa K, Kohda E, Matsuo N. Computed tomography in the early detection of congenital lipoid adrenal hyperplasia. Pediatric Radiology 18(4): 360-361, 1988.
  27. Kuroki Y, Katsumata N, Eguchi T, Fukushima Y, Suwa S, Kajii T. Precocious puberty in Kabuki makeup syndrome. The Journal of Pediatrics 110(5): 750-752, 1987.
  28. Suwa S, Katsumata N, Maesaka H, Kusahana A, Yamada Y. Plasma growth hormone response to growth hormone-releasing factor in normal children and children with short stature. Endocrinol Japon, 34(Suppl. 1): 39-50, 1987.
  29. Maesaka H, Suwa S, Tachibana K, Katsumata N. Prolonged activation of hypothalamo-pituitary-ovarian axis during early infancy in female patients with salt-losing 21-hydroxylase deficiency. Pediatric Research 19(12): 1257-1262, 1985.
  30. Saheki T, Imamura Y, Inoue I, Miura M, Ohtake A, Tatibana M, Katsumata N, Ohno T. Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein. Journal of Inherited Metabolic Disease 7(1): 2-8, 1984.

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