• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Analysis of gene mutations in retinal dystrophies

Research Project

Project/Area Number 08457468
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionJuntendo University School of Medicine

Principal Investigator

HAYAKAWA Mutsuko  Juntendo University Ophthalmology Assitant Professor, 医学部, 講師 (60095825)

Co-Investigator(Kenkyū-buntansha) SAITO Akio  Juntendo University Ophthalmology Assitant, 医学部, 助手 (10260902)
FUJIKI Keiko  Juntendo University Ophthalmology Assitant Professor, 医学部, 講師
HOTTA Yoshihiro  Juntendo University Ophthalmology Assitant Professor, 医学部, 講師 (90173608)
Project Period (FY) 1996 – 1998
Project Status Completed (Fiscal Year 1998)
Budget Amount *help
¥4,000,000 (Direct Cost: ¥4,000,000)
Fiscal Year 1998: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 1997: ¥700,000 (Direct Cost: ¥700,000)
Fiscal Year 1996: ¥2,400,000 (Direct Cost: ¥2,400,000)
Keywordsretinitis pigmentosa / choroideremia / X-linked retinoschisis / REP-1 gene / XLRSI gene / Leber's optic neuropathy / mutation / phenotype / X連鎖網膜分離症 / XLRS1遺伝子 / 遺伝子型 / レーベル視神経萎縮症 / ミトコンドリアDNA / 候補遺伝子アプローチ / ペリフェリン / RDS / X連鎖コーンジストロフィ / XRS遺伝子 / ロドプシン / 網膜変性
Research Abstract

We analyzed the candidate genes of retinitis pigmentosa, retinal dystrophies, choroideremia, and X - linked retinoschisis of over 200 families. It was difficult to detect the mutations of retinitis pigmentosa and retinal dystrophies. because there were too many candidate genes. however, 15 kinds of mutations of REP - 1 (Rab escort protein - 1) gene were detected in 22 patients with choroideremia and 5 female carriers from 19 families. All of them were nonsense mutation, small deletion or insertion. There was neither hot spot in the gene nor the correlation of phenotype with genotype of the mutations. We also found 8 kinds of mutations in XLRS1 gene in 15 patients with retinoschisis and 3 female carriers from 12 families. In contrast to choroideremia, all of them were missense mutations except one nonsense mutation. The relationship between genotype and phenotype was not observed in the cases of retinoschisis. DNA analysis is expected to be useful in the diagnosis of these diseases because the mutation of the causative gene is detected with high reliability. Mitochondrial DNA analysis has already been shown to be useful in the diagnosis of Leber's optic neuropathy in our clinic. We could get many results over the three years.

Report

(4 results)
  • 1998 Annual Research Report   Final Research Report Summary
  • 1997 Annual Research Report
  • 1996 Annual Research Report
  • Research Products

    (123 results)

All Other

All Publications (123 results)

  • [Publications] 堀田喜裕、他: "網膜芽細胞腫の遺伝子診断の試み" 眼臨. 90(3). 366-369 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Nicolas MG, et al.: "Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus (Nacaca fasciculars) Monkeys. I.Abnormal Concentrations of Two Proteins in the Retina." Exp Eye Res. 62. 211-219 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Nicolas MG, et al.: "Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus Monkeys. II. Suppression of Metallothionein Synthesis in the Retina in Oxidative Stress Metallothiohei〓" Exp Eye Res. 62. 399-408 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "網膜色素変性のQOL" 眼科. 38. 373-380 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕: "ロドプシン遺伝子異常を伴った常染色体優性網膜色素変性の表現型" 眼紀. 47. 491-496 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Ara-Iwata F et al: "Analysis of phosducin as a candidate gene for retinopathies" Ophthalmic Genetics. 17(1). 3-14 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 藤巻拓郎、他: "レーベル病のDNA診断とその臨床像" 臨眼. 50(6). 1179-1182 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子、他: "網膜色素変性患者のQOL評価の解析" 臨眼. 50(6). 1225-1229 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕: "網膜変性の原因" あたらしい眼科. 13(7). 993-1001 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "網膜変性とQuality of Life (QOL) ー心理社会的サポートのための情報ー" あたらしい眼科. 13(7). 1023-1031 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 片岡晶子、他: "異なる眼底所見を呈した眼底白点症の3症例" 臨眼. 50(5). 963-967 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 貞松良成、他: "非定型的眼底白点症の1例" 眼臨. 90(11). 1452-1454 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 大木順子、早川むつ子、他: "Stargardt病・黄色班眼底群III型に属する2症例" 臨眼. 50(6). 1083-1086 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕: "染色体検査や遺伝子診断でわかる疾患にどのような疾患がありますか" あたらしい眼科. 13. 41-44 (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "網膜色素変性の疫学" 第1回国際眼科シンポジウム1997.5, 京都. 3-4 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "網膜色素変性の最新医療情報" 難病と在宅ケア. 3(1). 6-9 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "難病の記述疫学 網膜色素変性" 厚生省特定疾患調査研究事業特定疾患に関する疫学研究班(班長 大野良之). 53-55 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hayakawa M, et al.: "Multicenter Genetic Study of Retinitis Pigmentosa in Japan : I. Genetic Heterogeneity in Typical Retinitis Pigmentosa" Jpn J Ophthalmol. 41. 1-6 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hayakawa M, et al.: "Multicenter Genetic Study of Retinitis Pigmentosa in Japan : II. Prevalence of Autosomal Recessive Retinitis Pigmentosa" Jpn J Ophthalmol. 41. 7-11 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "網膜色素変性の理解の仕方と対応" 東京都眼科医会報. 159. 23-27 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hotta Y, et al.: "A Hemizygous A to CC Base Change of the CHM Gene Causing Choroideremia Associated with Pinealoma" Graefe's Arch Clin Exp Ophthalmol. 235. 653-655 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕: "他の網膜変性疾患(The Other Retinal Dystrophies)" あたらしい眼科. 14(10). 1483-1489 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 鈴木通弘、早川むつ子、他: "カニクイザルに観察された進行性黄班部変性例" 比較眼科. 16. 111-114 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 遠藤紳一郎、石田誠夫、他: "ミトコンドリアDNA解析で診断されたレーベル病の兄弟例" 臨眼. 51. 27-30 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕: "レーベル病の遺伝子診断" SRL宝函. 21. 112-116 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hotta Y, et al.: "Japanese juvenile retinoschisis is caused by mutations of the XLRSI" Hum Genet. 103. 142-144 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yoshii K, et al.: "Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation." Ophthalmic Res. 30. 1-10 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Matsumoto M, et al.: "Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778" J Hum Genet. 43. 242-245 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "網膜色素変性症の遺伝の理解の仕方" JRPSニュースレター. 9. 4-15 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "遺伝学を理解するのに必要な知識" 眼科. 40. 1213-1222 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕: "網膜ジストロフィと遺伝" 日本の眼科. 69(12). 1411-1415 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Fujiki K, Hotta Y, et al: "Analysis of Peripherin/RDS gene for Japanese retinal dystrophies." Jpn J Ophthalmol. 42. 186-192 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 北田 浩美, 他: "標的黄班病巣を伴う白点状網膜炎と考えられる若年の一例" 眼科臨床医報. 92. 526-529 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "染色体異常(Down症など)による眼合併症について教えてください。" あたらしい眼科. 15(臨増). 83-85 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田 喜裕: "色覚異常の分子生物学" 医学のあゆみ. 186. 201-205 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田 喜裕: "脈絡膜ジストロフィ" 眼科. 40. 1335-1341 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田 喜裕: "レーベル遺伝性視神経萎縮症(Leber病)" 小児内科. 30. 1147-1151 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Fujiki K, Hotta Y, et al: "REP-1 gene mutations in Japanese patients with choroideremia" Graefe's Arch Clin Exp Ophthalmol. (in press). (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hayakawa M, Fujiki K, et al.: "Visual impairment and REP-1 gene mutations in Japanese choroideremia patients" Ophthalmic Genet. (in press). (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "眼科診療Q&A 18" 六法出版, 2(308-1309) (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕: "眼科診療プラクティス 22 : やさしい眼の細胞・分子生物学" 文京堂, 6(127-132) (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "眼科診療プラクティス 25 : 眼と全身病ガイド" 文光堂, 2(47-48) (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "眼科診療プラクティス 27 : 小児視力障害の診療" 文光堂, 3(129-131) (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田喜裕、藤木慶子: "蛋白質・核酸酵素 41(15) : 染色体マッピングと遺伝子クローニング" 共立出版, 8(2433-2440) (1996)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hayakawa M, et al.: "Degenerative Retinal Dieseases, ed.LaVail et al." Plenum Press, New York, 8(43-49) (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hotta Y, et al.: "Degenerative Retinal Diseases, ed.LaVail et al." Plenum Press, New York, 7(255-261) (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川むつ子: "中途失明-それでも朝はくる-" 株式会社まほろば, 3(261-263) (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "症候群辞典-治療と診療 86増刊号" 診断と治療社, 1(792) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "実践眼底疾患" メディカル葵出版, 12(306-317) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田 喜裕: "眼科診療便利手帖" 診療と治療社, 1(176) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "新図説臨床眼科講座6, 加齢と眼(石橋 達朗篇)" メディカルビュー社, 3(198-200) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "新図説臨床眼科講座6, 加齢と眼(石橋 達朗篇)" メディカルビュー社, 3(201-202) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 早川 むつ子: "新図説臨床眼科講座6, 加齢と眼(石橋 達朗篇)" メディカルビュー社, 3(203-205) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 堀田 喜裕: "眼科臨床医のためのやさしい分子生物学" 診断と治療社, 3(120-122) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 藤木慶子: "眼科診療Q&A" 六法出版社(眼22), 2(176-177) (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 藤木慶子: "眼科診療Q&A" 六法出版社(眼24), 4(156-159) (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Nicolas MG,et al: "Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus (Nacaca fascicularis) Monkeys. I.Abnormal Concentrations of Two Proteins in the Retina." Exp Eye Res. 62. 211-219 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Nicolas MG,et al: "Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus Monkeys. II.Suppression of Metallothionein Synthesis in the Retina in Oxidative Stress" Exp Eye Res. 62. 399-408 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Ara-Iwata F,et al: "Analysis of phosducin as a candidate gene for retinopathies" Ophthalmic Genetics. 17(1). 3-14 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hayakawa M,et al: "Multicenter Genetic Study of Retinitis Pigmentosa in Japan : I.Genetic Heterogeneity in Typical Retinitis Pigmentosa" Jpn J Oohthalmol. 41. 1-6 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hayakawa M,et al: "Multicenter Genetic Study of Retinitis Pigmentosa in Japan : II.Prevalence of Autosomal Recessive Retinitis Pigmentosa" Jpn J Oohthalmol. 41. 7-11 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hotta Y,et al: "A Hemizygous A to CC Base Change of the CHM Gene Causing Choroideremia Associated with Pinealoma" Graefe's Arch Clin Exp Ophthalmol. 235. 653-655 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hotta Y,et al: "Japanese juvenile retinoschisis is caused by mutations of the XLRSI" Hun Genet. 103. 142-144 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yoshii K,et al: "Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation." Ophthalmic Res. 30. 1-10 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Matsumoto M,et al.: "Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778" J Hum Genet. 43. 242-245 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Fujiki K,Hotta Y,et al: "Analysis of Peripherin/RDS gene for Japanese retinal dystrophies." Jpn Ophthalmol. 42. 186-192 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Fujiki K,Hotta Y,et al: "REP-1 gene mutations in Japanese patients with choroideremia" Graefe's Arch Clin Exp Ophthalmol. (in press). (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hayakawa M,Fujiki K,et al: "Visual impairment and REP-1 gene mutations in Japanese choroideremia patients" Ophthalmic Genet. (in press). (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hotta Y,et al.: "Japanese juvenile retinoschisis is caused by mutations of the XLRSl" Hum Genet. 103. 142-144 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Yoshii K,et al.: "Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation" Ophthalmic Res. 30. 1-10 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Matsumoto M,et al.: "Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778" J Hum Genet. 43. 242-245 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "網膜色素変性症の遺伝の理解の仕方" JRPSニュースレター. 9. 4-15 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "遺伝学を理解するのに必要な知識" 眼科. 40. 1213-1222 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "網膜ジストロフィと遺伝" 日本の眼科. 69(12). 1411-1415 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Fujiki K,Hotta Y,et al: "Analysis of Peripherin / RDS gene for Japanese retinal dystrophies." Jpn J Ophthalmol. 42. 186-192 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 北田 浩美,他: "標的黄斑病巣を伴う白点状網膜炎と考えられる若年の一例" 眼科臨床医報. 92. 526-529 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "染色体異常(Down症など)による眼合併症について教えて下さい。" あたらしい眼科. 15(臨増). 83-85 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "色覚異常の分子生物学" 医学のあゆみ. 186. 201-205 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Fujiki K,Hotta Y,et al.: "REP-1 gene mutations in Japanese patients with choroideremia" Graefe's Arch Clin Exp Ophthalmol. (in press). (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] Hayakawa M,Fujiki K,et al.: "Visual impairment and REP-1 gene mutations in Japanese choroideremia patients" Ophthalmic Genet. (in press). (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "眼科 40巻 特集/目でみる眼の遺伝学" 金原出版, 1335〜1341 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "小児内科 30巻 特集 小児のミトコンドリア異常症" 東京医学社, 1147〜1151 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "症候群辞典-治療と診療 86増刊号" 診断と治療社, 792 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "実践眼底疾患" メディカル葵出版, 306〜317 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "眼科診療便利手帖" 診断と治療社, 176 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "新図説臨床眼科講座6,加齢と眼(石橋 達朗篇)" メディカルビュー社, 198〜200 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "新図説臨床眼科講座6,加齢と眼(石橋 達朗篇)" メディカルビュー社, 201〜202 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川 むつ子: "新図説臨床眼科講座6,加齢と眼(石橋 達朗篇)" メディカルビュー社, 203〜205 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "眼科臨床医のためのやさしい分子生物学" 診断と治療社, 120〜122 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 早川むつ子: "網膜色素変性の疫学" 第一回国際眼科シンポジウム. 3-4 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 早川むつ子: "網膜色素変性の最新医療情報" 難病と在宅ケア. 3(1). 6-9 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 早川むつ子: "難病の記述疫学 網膜色素変性" 厚生省特定疾患調査研究事業特定疾患に関する疫学研究班(班長 大野良之). 1997. 53-55

    • Related Report
      1997 Annual Research Report
  • [Publications] M.Hayakawa,et al: "Multicenter Genetic Study of Retintis Pigmentosa in Japan : I.Genetic Heterogeneity in Typical Retinitis Pigmentosa" Jpn J Ophthalmol. 41. 1-6 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] M.Hayakawa,et al: "Multicenter Genetic Study of Retintis Pigmentosa in Japan : II.Prevalnce of Autosomal Recessive Retinitis Pigmentosa" Jpn J Ophthalmol. 41. 7-11 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 早川むつ子: "網膜色素変性の理解の仕方と対応" 東京都眼科医会報. 159. 23-27 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 早川むつ子: "「中途失明」の刊行に寄せて" 中途失明. 261-263 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Y.Hotta,et al: "A Hemizygous A to CC Base Change of the CHM Gene Causing Choroideremia Associated with Pinealoma" Graefe's Arch Clin Exp Ophthalmol. 235. 653-655 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 堀田喜裕: "他の網膜変性疾患(The Other Retinal Dystrophies)" あたらしい眼科. 14(10). 1483-1489 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Fujiki K,et al: "Analysis of peripherin/RDS gene for Japanese retinal dystrophies" Jpn J Ophthalmol. 42 (in press). (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] Naoko Ohtani-Fujita,et al: "Hypermethylation in the Retinoblastoma Gene Is Associated with Unilateral, Sporadic Retinoblastoma" Cancer Genet Cytogenet. 98. 43-49 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Nishimura C,et al: "The Level of Erythrocyte Aldose Reductase is Associated with the Severity of Diabetic Retinopathy" Diabetes Research and Clinical Practice. 37. 173-177 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Yoshii M et al: "Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation" Ophthalmic Res. 30. 1-10 (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] M.Hayakawa,et al: "Degenerative Retinal Dieseases,ed.LaVail et al Plenum Press,New York" A Family with X-linked cone dysro phy sho wing a tapetal-like reflex, 8 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] Y.Hotta,et al: "Degenerative Retinal Diseases,ed.LaVail et al Plenum Press,New York" Screening of Candidate Genes on Japanese Retinal Dystrophies, 7 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 堀田喜裕、他: "網膜芽細胞腫の遺伝子診断の試み" 眼臨. 90(3). 366-367 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] M.G.Nicolas,et al: "Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus (Nacaca fascicularis) Monkeys. 1 Abnormal Concentrations of Two Proteins in the Retina." Exp Eye Res. 62. 211-219 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] M.G.Nicolas,et al: "Studies on the Mechanism of Early Onset Macular Degeneration in Cynomolgus Monkeu." Exp Eye Res. 399-408 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 早川むつ子: "網膜色素変性のQOL" 眼科. 38. 373-380 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 堀田喜裕: "ロドプシン遺伝子異常を伴った常染色体優性網膜色素変性の表現型" 眼紀. 47. 491-496 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] F.Iwata,et al: "Analysis of phosducin as a candidate gene for retinopathies" Ophthalmic Genetics. 17(1). 3-14 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 藤巻拓郎、他: "レ-ベル病のDNA診断とその臨床像" 臨眼. 50(6). 1179-1182 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 早川むつ子、他: "網膜色素変性患者のQOL評価の解析" 臨眼. 50(6). 1225-1229 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 堀田喜裕: "網膜変性の原因" あたらしい眼科. 17(7). 993-1001 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 早川むつ子: "網膜変性とQuality of Life (QOL)-心理社会的サポートのための情報-" あたらしい眼科. 13(7). 1023-1031 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 片岡晶子、他: "異なる眼底所見を呈した眼底白点症の3症例" 臨眼. 50(5). 963-967 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 貞松良成、他: "非定型的眼底白点症の1例" 眼臨. 90(11). 1452-1454 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 大木順子、他: "Stargardt病・黄色斑眼底群III型に属する2症例" 臨床眼科. 50(6). 1083-1086 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 堀田喜裕: "染色体検査や遺伝子診断でわかる疾患にどのような疾患がありますか" あたらしい眼科. 13. 41-44 (1896)

    • Related Report
      1996 Annual Research Report
  • [Publications] 早川むつ子: "眼科診療Q&A 18" 六法出版, 2 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 堀田喜裕: "眼科診療プラクティス22" 文京堂, 6 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 早川むつ子: "眼科診療プラクティス25" 文光堂, 2 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 早川むつ子: "眼科診療プラクティス27" 文光堂, 3 (1996)

    • Related Report
      1996 Annual Research Report
  • [Publications] 堀田喜裕、他: "蛋白質・核酸酵素41(15)" 共立出版, 8 (1996)

    • Related Report
      1996 Annual Research Report

URL: 

Published: 1996-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi