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Registration of disease-associated balanced chromosome rearrangements (DBCRs) and FISH analyses of the breakpoints for positional cloning strategy.

Research Project

Project/Area Number 12470516
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionShinshu University

Principal Investigator

FUKUSHIMA Yoshimitsu  Shinshu Univ. Sch. Med., Medical Genetics, Professor, 大学院医学系研究科, 教授 (70273084)

Co-Investigator(Kenkyū-buntansha) KOSHO Tomoki  Shinshu Univ. Hospital, Assistant Professor, 医学部附属病院, 助手 (90276311)
WADA Takahito  Shinshu Univ. Sch. Med., Medical Genetics, Assistant Professor, 医学部, 助手 (70359727)
WAKUI Keiko  Shinshu Univ. Sch. Med., Medical Genetics, Assistant Professor, 医学部, 助手 (50324249)
MURASE Sumio  Shinshu Univ. Sch. Med., Medical Genetics, Professor, 医学部, 教授 (70200285)
KUBOTA Takeo  Yamanashi Univ. Sch. Med., Environment Health/Epigenetic, Professor, 医学部, 教授 (70293511)
坂爪 悟  信州大学, 医学部, 助手 (70306174)
川目 裕  信州大学, 医学部・附属病院, 助手 (60246395)
Project Period (FY) 2000 – 2003
Project Status Completed (Fiscal Year 2003)
Budget Amount *help
¥12,800,000 (Direct Cost: ¥12,800,000)
Fiscal Year 2003: ¥2,000,000 (Direct Cost: ¥2,000,000)
Fiscal Year 2002: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 2001: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2000: ¥8,000,000 (Direct Cost: ¥8,000,000)
Keywordspositional cloning / chromosome abnormality / chromosome rearrangement / balanced translocation / Mendelian Cytogenetics / fluorescence in situ hybridization / FISH / DBCRs / 染色体均衡型構造異常 / 特発性思春期早発症 / FISH解析 / 染色体構造異常 / 思春期早発症 / BACクローン / ボジショナルクローニング / YAC / BAC
Research Abstract

We registered 54 patients with "disease-associated balanced chromosome rearrangements (DBCRs)". In the study of familial 21q proximal deletion [del(21)(q11.2q21.3)], the precise deleted region was identified by FISH analyses and speculated that the USH1E mapped on 21q21 is a candidate disease locus of the proband's sensorineural hearing loss (Wakui et al. 2002). In the study of severe Prader-Willi syndrome (PWS) with monosomy 15pter-15q14 and trisomy 22pter-22q11.2, the precise deletion and duplication sizes of the derivative chromosome was determined by several FISH methods. This patient had the PWS phenotype resulted from the 15q12 deletion, and some features resulted from the partial trisomy of 22q. Intrauterine growth retardation, which is unusual in either PWS and partial trisomy of 22q, was suspected to be the effects of the deletion of 15q13-q14 (Matsumura et al. 2003). In type 2 diabetes mellitus (T2DM) patient with t(3p;9q), we constructed physical maps covering both breakpoints, and detected some candidate genes around the breakpoints. We then carried out sequence analysis for all coding regions of the candidate genes in unrelated T2DM patients in order to validate whether aberrations of the gene are common in T2DM patients, but failed to detect any pathogenic changes. In a patient having precocious puberty (PP) and mental retardation with t(7q;10p), We constructed physical maps covering both breakpoints, and detected some candidate genes. We started sequence analysis of the candidate genes in unrelated PP patients. According to the collaborations using our DBCRs samples, BPESC1, mapped on 3q23, was identified as a responsible gene for Blepharophimosis sequence (BPES) using our patient with t(3;4)(q23;p15.2) (De Baere et al. 2000). And MIPOL, mapped on 14q13, was identified as a responsible gene for mirror-image polydactyly of hands and feet using our patient with t(2;14)(p23.3;q13) (Kondoh et al. 2002).

Report

(5 results)
  • 2003 Annual Research Report   Final Research Report Summary
  • 2002 Annual Research Report
  • 2001 Annual Research Report
  • 2000 Annual Research Report
  • Research Products

    (62 results)

All Other

All Publications (62 results)

  • [Publications] 涌井敬子: "Mendelian Cytogenetics Network.疾患に関連する染色体均衡型構造異常症例のデータベース化と株化細胞保存の重要性"信州医誌. 48. 43-44 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Iida A: "Identification of a gene disrupted by inv(11)(q13.5q25) in a patient with left-right axis malformation."Hum Genet. 106. 277-287 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] De Baere E: "Identification of BPESC1, a novel, gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES."Genomics. 68. 296-304 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ogata T: "Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation."Am J Med Genet. 92. 256-259 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ogata T: "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."J Clin Endocrinol Metab. 85. 2927-2930 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Muroya K: "Sex-determining gene (s) on distal 9p : Clinical and molecular studies in six cases."J Clin Endocrinol & Metabol. 85. 3094-3100 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Saito N: "Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period."Spine. 26. 835-837 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Akahoshi K: "Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation."Am J Med Genet. 101. 153-157 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Inoue K: "Prenatal interphase FISH diagnosis of PLP duplication associated with Pelizaeus-Merzbacher disease."Prenatal Diagnosis. 21. 1133-1136 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Miyoshi A: "Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1."Am J Med Genet. 104. 250-256 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ogata T: "FISH analysis for apparently simple terminal deletions of the X chromosome : Identification of hidden structural abnormalities."Am J Med Genet. 104. 307-311 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kurotaki N: "Haploinsufficiency of NSD1 causes Sotos syndrome."Nature Genet. 30. 356-366 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Muroya K: "Ring chromosome 21 in a boy and a derivative chromosome 21 in the mother : Implication for ring chromosome formation."Am J Med Genet. 110. 332-337 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kondoh S: "A novel gene is disrupted at a 14q13 breakpoint of t(2;4) in a patient with miror-image polydactyly of hands and feet."J Hum Genet. 47. 136-139 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Wakui K: "Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression."J Hum Genet. 47. 511-516 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kubota T: "The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females."Cytogenet Genome Res. 99. 276-284 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Matsumura M: "'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15;22)(q14;q11.2) translocation."Clin Genet. 63. 79-81 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Adachi M: "Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome"Am J Med Genet. 117A. 295-298 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Nagai T: "Sotos syndrome and haploinsufficiency of NSD1 : clinical features of intragenic mutations and submicroscopic deletions"J Med Genet. 40. 285-289 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 村上智彦: "グリセロールキナーゼ欠損症を伴った先天性副腎低形成の1症例"奈良医学雑誌. 54. 305-311 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Miyake N: "Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome."Am J Hum Genet. 72. 1331-1337 (2003)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Wakui K: "Registration of Disease-associated balanced chromosome rearrangements. (in Japanese)"Shinshu Medical Journal. 48. 43-44 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Iida A, Emi M, Matsuoka R, Hiratsuka E, Okui K, Ohashi H, Inazawa J, Fukushima Y, Imai T, Nakamura Y: "Identification of a gene disrupted by inv(11)(q13.5q25) in a patient with left-right axis malformation."Hum Genet. 106. 277-287 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] De Baere E, Fukushima Y, Small K, Udar N, Van Camp G, Verhoeven K, Palotie A, De Paepe A, Messiaen L: "Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES."Genomics. 68. 296-304 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 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."Am J Med Genet. 92. 256-259 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 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."J Clin Endocrinol Metab. 85. 2927-2930 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 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."J Clin Endocrinol Metab. 85. 3094-3100 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Saito N, Ebara S, Fukushima Y, Wakui K, Takaoka K: "Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period."Spine. 26. 835-837 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Akahoshi K, Moriwaki S, kimiya S, Takahashi I, Fukushima Y: "Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation."Am J Med Genet. 101. 153-157 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR, Shaffer LG: "Prenatal interphase FISH diagnosis of PLP duplication associated with Pelizaeus-Merzbacher disease."Prenatal Diagnosis. 21. 1133-1136 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Miyoshi A, Yabe R, Wakui K, Fukushima Y, Koizumi S, Uchikawa M, Kajii T, Numakura C, Takahashi S, Hayasaka K, Niikawa N.: "Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1."Am J Med Genet. 104. 250-256 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Ogata T, Matsuo N, Fukushima Y, Saito M, Nose O, Miharu N, Uehara S, ishizuka B: "FISH analysis for apparently simple terminal deletions of the X chromosome : Identification of hidden structural abnormalities."Am J Med Genet. 104. 307-311 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 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."Cytogenet Genome Res. 99. 276-284 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K: "A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with miror-image polydactyly of hands and feet."J Hum Genet. 47. 136-139 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondo T, NagaiT, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H, Kinoshita A, Mizuguchi T, Yoshiura K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N: "Haploinsufficiency of NSD1 causes Sotos syndrome."Nat Genet. 30. 365-366 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 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."Am J Med Genet. 110. 332-337 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Wakui K, Toyoda A, Kubota T, Hidaka E, ishikawa M, katsuyama T, Sakaki Y, Hattori M, Fukushima Y: "Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression."J Hum Genet. 47. 511-516 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T, Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe JS, Fukushima Y, Katsuyama T: "'Severe' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15;22)(q14;q11.2) translocation."Clin Genet. 63. 79-81 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Adachi M, Tachibana K, Asakura Y, Nishimura G, Fukushima Y, Sakazume S: "Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome."Am J Med Genet. 117A. 295-298 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] 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, Sakazume S, Fukushima Y, Naritomi K: "Sotos syndrome and haploinsufficiency of NSC1: clinical features of intragenic mutations and submicroscopic deletions."J Med Genet. 40. 285-289 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Murakami T, Kamitsuji H, Nakano T, Kin H, Nishikubo T, Kisato Y, Ishikawa N, Kuwahara I, Sakaue T, Wakui K, Fukushima Y: "A case of X-linked adrenal hypoplasia congenital with Glycerol kinase deficiency. (in Japanese)"J Nara Medical Associat. 54. 305-311 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Miyake N, Kurotaki N, Sugawara H, Shimokawa O, Harada N, Kondoh T, Tsukahara M, Ishikiriyama S, Sonoda T, Miyoshi Y, Sakazume S, Fukushima Y, Ohashi H, Nagai T, Kawame H, Kurosawa K, Touyama M, Shiihara T, Okamoto N, Nishimoto J, Yoshiura K, Ohta T, Kishino T, Niikawa N, matsumoto N: "Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome."Am J Hum Genet. 72. 1331-1337 (2003)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2003 Final Research Report Summary
  • [Publications] Matsumura M: "Severe Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation"Clin Genet. 63. 79-81 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Adachi M: "Generalized skeletal dysplasia in mother and daughter with 22q11 deletion syndrome"Am J Med Genet. 117A. 295-298 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Nagai T: "Sotos syndrome and haploinsufficiency of NSD1 : clinical features of intragenic mutations and submicroscopic deletions"J Med Genet. 40. 285-289 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] 村上智彦: "グリセロールキナーゼ欠損症を伴った先天性副腎低形成の1症例"奈良医学雑誌. 54. 305-311 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Miyake N: "Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome"Am J Hum Genet. 72. 1331-1337 (2003)

    • Related Report
      2003 Annual Research Report
  • [Publications] Wakui K, Toyoda A, Kubota T, Hidaka E, Ishikawa M, Katsuyama T, Sakaki Y, Hattori M, Fukushima Y: "Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression"J Hum Genet. 47. 511-516 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Shirohzu H, Kubota T, Kumazawa A, Sado T, Chijiwa T, Inagaki K, Suetake I, Tajima T, Wakui K, Miki Y, Hayashi M, Fukushima Y, Sasaki H: "Three novel DNMT3B mutations in Japanese patients with ICF syndrome"Am J Med Genet. 112. 31-37 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 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"Am J Med Genet. 110. 332-337 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondo T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H, Kinoshita A, Mizuguchi T, Yoshiura K, Ohta T, kishino T, Fukushima Y, Niikawa N, Matsumoto N: "Haploinsufficiency of NSD1 causes Sotos syndrome"Nature Genet. 30. 365-366 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K: "A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with miror-image polydactyly of hands and feet"J Hum Genet. 47. 136-139 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Fukushirna Y: "Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1"Am J Med Genet. 104. 250-256 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Fukushima Y: "Prenatal interphase FISH diagnosis of PLP duplication associated with Pelizaeus-Merzbacher disease"Prenatal Diagnosis. 21. 1133-1136 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Fukushima Y: "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome"J Med Genet. 38. 374-380 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Fukushima Y: "Woman with UV hypersensitivity and a de novo unbalanced chromosome translocation"Am J Med Genet. 101. 153-157 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Fukushima Y: "Mutation frequencies of EXT1 and EXYF2 in 43 Japanese families with hereditary multiple exostoses"Am J Med Genet. 99. 59-62 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] De Baere E: "Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES."Genomics. 68. 296-304 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Fukushima Y: "Pitfalls of chromosome analysis"Congenital Animalies.. 40. 131-132 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Seki H: "Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses."Am J Med Genet. 99. 59-62 (2001)

    • Related Report
      2000 Annual Research Report
  • [Publications] Ishikawa S: "Japanese family with an autosomal dominant chromosome instability syndrome : a new neurodegenerative disease?"Am J Med Genet. 94. 265-270 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] 涌井敬子: "Mendelian Cytogenetics Network疾患に関連する染色体均衡型構造異常症例のデータベース化と株化細胞保存の重要性."信州医学雑誌. 48. 43-44 (2000)

    • Related Report
      2000 Annual Research Report

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Published: 2000-04-01   Modified: 2016-04-21  

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