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

Submicroscopic chromosomal structural aberrations in human developmental disorders

Research Project

Project/Area Number 16390101
Research Category

Grant-in-Aid for Scientific Research (B)

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

Principal Investigator

MATSUMOTO Naomichi  Yokohama City University, Graduate School of Medicine, Department of Human Genetics, Professor, 大学院・医学研究科, 教授 (80325638)

Co-Investigator(Kenkyū-buntansha) NIIKAWA Norio  Nagasaki University, Graduate School of Biomedical Sciences, Department of Human Genetics, Professor, 大学院・医歯薬学総合研究科, 教授 (00111170)
Project Period (FY) 2004 – 2005
Project Status Completed (Fiscal Year 2005)
Budget Amount *help
¥15,400,000 (Direct Cost: ¥15,400,000)
Fiscal Year 2005: ¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 2004: ¥13,200,000 (Direct Cost: ¥13,200,000)
Keywordsspontaneous abortion / mental retardation / microarray / CGH / gene / comparative genomic hybridization / 流産 / 染色体微細異常 / ゲノム病 / 染色体異常
Research Abstract

The original BAC microarray was developed, in which a total of 2173 BAC were spotted. All BAC clones were confirmed to show a unique signal at supposed chromosomal location. The microarray CGH system was used for analysis of idiopathic mental retardation, Kabuki make-up syndrome, first trimester spontaneous abortion, and other congenital disorders. Contribution of genomic abnormalities in each disorder was determined. Furthermore microdeletions in Sotos syndrome and structural abnormalities of inv dup del(8p) were extensively analyzed and mechanisms of their origins were validated. Through this project, 9q telomere syndrome was established and its critical region was clearly indicated. All these works demonstrated that the developed microarray system was very useful for detection of submicroscopic genomic abnormalities as well as responsible genes in many human developmental disorders.

Report

(3 results)
  • 2005 Annual Research Report   Final Research Report Summary
  • 2004 Annual Research Report
  • Research Products

    (73 results)

All 2006 2005 2004

All Journal Article (71 results) Patent(Industrial Property Rights) (2 results)

  • [Journal Article] Nevo syndrome : a variant of Sotos syndrome?2006

    • Author(s)
      Kanemoto N
    • Journal Title

      Am J Med Genet 140A・1

      Pages: 70-73

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] A large interstitial deletion of 17p11.2-13.1 including the Smith-Magenis region in a patient with congenital multiple anomalies.2006

    • Author(s)
      Yamamoto T
    • Journal Title

      Am J Med Genet 140A・1

      Pages: 88-91

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] No causative genomic aberrations by BAC array CGH in Kabuki make-up syndrome.2006

    • Author(s)
      Miyake N
    • Journal Title

      Am J Med Genet 140A・3

      Pages: 291-293

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] BAC array CGH reveals genomic aberrations in non-syndromic mental retardation.2006

    • Author(s)
      Miyake N
    • Journal Title

      Am J Med Genet 140A・3

      Pages: 205-211

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Nevo syndrome : a variant of Sotos syndrome?2006

    • Author(s)
      Kanemoto N.
    • Journal Title

      Am J Med Genet 140A(1)

      Pages: 70-73

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A large interstitial deletion of 17p11.2-13.1 including the Smith-Magenis region in a patient with congenital multiple anomalies.2006

    • Author(s)
      Yamamoto T.
    • Journal Title

      Am J Med Genet 140A(1)

      Pages: 88-91

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] No causative genomic aberrations by BAC array CGH in Kabuki make-up syndrome.2006

    • Author(s)
      Miyake N.
    • Journal Title

      Am J Med Genet 140A(3)

      Pages: 291-293

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] BAC array CGH reveals genomic aberrations in non-syndromic mental retardation.2006

    • Author(s)
      Miyake N.
    • Journal Title

      Am J Med Genet 140A(3)

      Pages: 205-211

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A large interstitial deletion of 17p11.2-13.1 including the Smith-Magenis region in a patient with congenital multiple anomalies.2006

    • Author(s)
      Yamomoto T
    • Journal Title

      Am J Med Genet 140A・1

      Pages: 88-91

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Identification of a 30.-kb major recombination hotspot in Sotos syndrome patients with a common 1.9-Mb microdeletion.2005

    • Author(s)
      Visser R
    • Journal Title

      Am J Hum Genet 76(1)

      Pages: 52-67

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome.2005

    • Author(s)
      Miyake N
    • Journal Title

      Am J Hum Genet 135A・1

      Pages: 103-105

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.2005

    • Author(s)
      Shimokawa O
    • Journal Title

      Am J Hum Genet 136A(1)

      Pages: 49-51

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.2005

    • Author(s)
      Jin Z-B
    • Journal Title

      Mol Vis 11

      Pages: 535-541

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] NSDI analysis for Sotos syndrome : Insights and perspectives from the clinical laboratory.2005

    • Author(s)
      Waggoner DJ
    • Journal Title

      Genet Med 7・8

      Pages: 524-533

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Molecular genetics of Marfan syndrome.2005

    • Author(s)
      Boileau C
    • Journal Title

      Curr Opin Cardiol 20・3

      Pages: 194-200

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.2005

    • Author(s)
      Kasaki R
    • Journal Title

      Congenit Anom 45・2

      Pages: 62-64

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Non-hotspot-related break points of common deletions in Shotos syndrome are located within destabilized DNA regions.2005

    • Author(s)
      Visser R
    • Journal Title

      J Med Genet 42・11

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.2005

    • Author(s)
      Yamasaki Y
    • Journal Title

      Hum Mol Genet 14・17

      Pages: 2511-2520

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.2005

    • Author(s)
      Machida H
    • Journal Title

      World J Gastroenterol 11・31

      Pages: 4833-4837

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Annual Research Report 2005 Final Research Report Summary
  • [Journal Article] Chromosome 1q deletion and congenital glaucoma.2005

    • Author(s)
      Okamoto N
    • Journal Title

      Pediar Int 47・4

      Pages: 477-479

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Klipperl-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother : A new variant of Dubowitz syndrome?2005

    • Author(s)
      Takahira S
    • Journal Title

      Am J Med Genet 138A・3

      Pages: 297-299

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Identification of a 3.0-kb major recombination hotspot in Sotos syndrome patients with a common 1.9-Mb microdeletion.2005

    • Author(s)
      Visser R.
    • Journal Title

      Am J Hum Genet 76(1)

      Pages: 52-67

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome.2005

    • Author(s)
      Miyake N.
    • Journal Title

      Am J Med Genet 135A(1)

      Pages: 103-105

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.2005

    • Author(s)
      Shimokawa O.
    • Journal Title

      Am J Med Genet 136A(1)

      Pages: 49-51

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.2005

    • Author(s)
      Jin Z-B.
    • Journal Title

      Mol Vis 11

      Pages: 535-541

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] NSD1 analysis for Sotos syndrome : Insights and perspectives from the clinical laboratory.2005

    • Author(s)
      Waggoner DJ.
    • Journal Title

      Genet Med 7(8)

      Pages: 524-533

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Molecular genetics of Marfan syndrome.2005

    • Author(s)
      Boileau C.
    • Journal Title

      Curr Opin Cardiol 20(3)

      Pages: 194-200

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.2005

    • Author(s)
      Kosaki R.
    • Journal Title

      Congenit Anom 45(2)

      Pages: 62-64

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions.2005

    • Author(s)
      Visser R.
    • Journal Title

      J Med Genet 42(11)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.2005

    • Author(s)
      Yamasaki Y.
    • Journal Title

      Hum Mol Genet 14(17)

      Pages: 2511-2520

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Crohn's disease in Japanese is associated with a SNP-haplotype of N-acetyltransferase 2 gene.2005

    • Author(s)
      Machida H.
    • Journal Title

      World J Gastroenterol 11(31)

      Pages: 4833-4837

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Chromosome 1q deletion and congenital glaucoma.2005

    • Author(s)
      Okamoto N.
    • Journal Title

      Pediatr Int 47(4)

      Pages: 477-479

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother : A new variant of Dubowitz syndrome?2005

    • Author(s)
      Takahira S.
    • Journal Title

      Am J Med Genet 138A(3)

      Pages: 297-299

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Identification of a 3.0-kb major recombination hotspot in Sotos syndrome patients with a common 1.9-Mb microdeletion.2005

    • Author(s)
      Visser R
    • Journal Title

      Am J Hum Genet 76・1

      Pages: 52-67

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome.2005

    • Author(s)
      Miyake N
    • Journal Title

      Am J Med Genet 135A・1

      Pages: 103-105

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.2005

    • Author(s)
      Shimokawa O
    • Journal Title

      Am J Med Genet 136A・1

      Pages: 49-51

    • Related Report
      2005 Annual Research Report
  • [Journal Article] NSD1 analysis for Sotos syndrome : Insights and perspectives from the clinical laboratory.2005

    • Author(s)
      Waggoner DJ
    • Journal Title

      Genet Med 7・8

      Pages: 524-533

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.2005

    • Author(s)
      Kosaki R
    • Journal Title

      Congenit Anom 45・2

      Pages: 62-64

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilized DNA regions.2005

    • Author(s)
      Visser R
    • Journal Title

      J Med Genet 42・11

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Chromosome 1q deletion and congenital glaucoma.2005

    • Author(s)
      Okamoto N
    • Journal Title

      Pediatr Int 47・4

      Pages: 477-479

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Klippel-Feil anomaly in a boy and Dubowitz syndrome with vertebral fusion in his brother : A new variant of Dubowitz syndrome?2005

    • Author(s)
      Takahira S
    • Journal Title

      Am J Med Genet 138A・3

      Pages: 297-299

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.2004

    • Author(s)
      Yamada T
    • Journal Title

      Genomics 83・3

      Pages: 402-412

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Loss of heterozygosity on chromosome 9q22.3 in microdissected basal cell carcinoma around Semipalatinsk nuclear testing site, Kazakhstan.2004

    • Author(s)
      Iwata K
    • Journal Title

      Hum Pathol 35・4

      Pages: 460-464

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.2004

    • Author(s)
      Kato R
    • Journal Title

      Am J Med Genet 127A・1

      Pages: 54-57

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Molecular characterization of inv dup del (8p) : analysis of five cases.2004

    • Author(s)
      Shimokawa O
    • Journal Title

      Am J Med Genet 128A・2

      Pages: 133-137

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] On the Reported 8p22-p23.1 Duplication in Kabuki Make-up Syndrome (KMS) and its Absence in Patients With Typical KMS.2004

    • Author(s)
      Miyake N
    • Journal Title

      Am J Med Genet 128A・2

      Pages: 170-172

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.2004

    • Author(s)
      Mizuguchi T
    • Journal Title

      J Hum Genet 49・2

      Pages: 80-86

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Phenotype-genotype correlation in two patients with 12q proximal deletion.2004

    • Author(s)
      Miyake N
    • Journal Title

      J Hum Genet 49・5

      Pages: 282-284

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.2004

    • Author(s)
      Okubo A
    • Journal Title

      J Med Genet 41・7

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A 1-Mb critical region in 6 patients with 9q34.3 terminal deletion syndrome.2004

    • Author(s)
      Harada N
    • Journal Title

      J Hum Genet 49(8)

      Pages: 440-444

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] The IHPK1 gene is disrupted at the 3q21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.2004

    • Author(s)
      Kamimura J
    • Journal Title

      J Hum Genet 49(7)

      Pages: 360-365

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Heterozygous TGFBR2 mutations in Marfan syndrome.2004

    • Author(s)
      Mizugushi T
    • Journal Title

      Nat Genet 36・8

      Pages: 855-860

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Hormonal land genetical assessment of a Japanese girl with Weaver syndrome.2004

    • Author(s)
      Miyoshi Y
    • Journal Title

      Clin Pediatr Endcrinol 13・1

      Pages: 17-23

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at human chromosome 7q32.2004

    • Author(s)
      Yamada T.
    • Journal Title

      Genomics 83(3)

      Pages: 402-412

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Loss of heterozygosity on chromosome 9q22.3 in microdissected basal cell carcinoma around Semipalatinsk nuclear testing site, Kazakhstan.2004

    • Author(s)
      Iwata K.
    • Journal Title

      Hum Pathol 35(4)

      Pages: 460-464

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.2004

    • Author(s)
      Kato R.
    • Journal Title

      Am J Med Genet 127A(1)

      Pages: 54-57

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Molecular characterization of inv dup del (8p) : analysis of five cases.2004

    • Author(s)
      Shimokawa O.
    • Journal Title

      Am J Med Genet 128A(2)

      Pages: 133-137

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] On the Reported 8p22-p23.1 Duplication in Kabuki Make-up Syndrome (KMS) and its Absence in Patients With Typical KMS.2004

    • Author(s)
      Miyake N.
    • Journal Title

      Am J Med Genet 128A(2)

      Pages: 170-172

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] LRP5,low-density-lipoprotein-receptor-related protein 5,is a determinant for bone mineral density.2004

    • Author(s)
      Mizuguchi T.
    • Journal Title

      J Hum Genet 49(2)

      Pages: 80-86

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Phenotype-genotype correlation in two patients with 12q proximal deletion.2004

    • Author(s)
      Miyake N.
    • Journal Title

      J Hum Genet 49(5)

      Pages: 282-284

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A novel GATA4 mutation completely segregated with atrial septal defect in a large Japnese family.2004

    • Author(s)
      Okubo A.
    • Journal Title

      J Med Genet 41(7)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] A 1-Mb critical region in 6 patients with 9q34.3 terminal deletion syndrome.2004

    • Author(s)
      Harada N.
    • Journal Title

      J Hum Genet 49(8)

      Pages: 440-444

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.2004

    • Author(s)
      Kamimura J.
    • Journal Title

      J Hum Genet 49(7)

      Pages: 360-365

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Heterozygous TGFBR2 mutations in Marfan syndrome.2004

    • Author(s)
      Mizuguchi T.
    • Journal Title

      Nat Genet 36(8)

      Pages: 855-860

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Hormonal and genetical assessment of a Japanese girl with Weaver syndrome.2004

    • Author(s)
      Miyoshi Y.
    • Journal Title

      Clin Pediatr Endcrinol 13(1)

      Pages: 17-23

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Journal Article] Subtelomere-specific Microarray-based Comparative Genomic Hybridization : A Rapid Detection System for Cryptic Rearrangements in Idiopathic Mental Retardation.2004

    • Author(s)
      Harada N, et al., Matsumoto N
    • Journal Title

      J Med Genet 41・2

      Pages: 130-136

    • Related Report
      2004 Annual Research Report
  • [Journal Article] 9q34.3 deletion syndrome in three unrelated children.2004

    • Author(s)
      Iwakoshi M, et al., Matsumoto N
    • Journal Title

      Am J Med Genet 126A・3

      Pages: 278-283

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Molecular Dissection of Inverted Duplication 8p23.2004

    • Author(s)
      Shimokawa O, et al., Matsumoto N
    • Journal Title

      Am J Med Genet 128A・2

      Pages: 133-137

    • Related Report
      2004 Annual Research Report
  • [Journal Article] On the Reported 8p22-p23.1 Duplication in Kabuki Make-up Syndrome (KMS) and its Absence in Patients With Typical KMS.2004

    • Author(s)
      Miyake N, et al., Matsumoto N
    • Journal Title

      Am J Med Genet 128A・2

      Pages: 170-172

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Phenotype genotype correlation in two patients with 12q proximal deletion.2004

    • Author(s)
      Miyake N, et al., Matsumoto N
    • Journal Title

      J Hum Genet 49・5

      Pages: 282-284

    • Related Report
      2004 Annual Research Report
  • [Journal Article] Unmasking 15q12 Deletion Using Microarray-based Comparative Genomic Hybridization in a Mentally Retarded Boy With r(Y).2004

    • Author(s)
      Kurosawa K, et al., Matsumoto N
    • Journal Title

      Am J Med Genet 130A・3

      Pages: 322-324

    • Related Report
      2004 Annual Research Report
  • [Patent(Industrial Property Rights)] マルファン症候群診断用ブローブ、及び当該プローブを用いたスクリーニング法2004

    • Inventor(s)
      松本直道, 新川詔夫他2名
    • Industrial Property Rights Holder
      長崎大学
    • Industrial Property Number
      2004-158099
    • Filing Date
      2004
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2005 Final Research Report Summary
  • [Patent(Industrial Property Rights)] マルファン症候群診断用プローブ、及び当該プローブを用いたスクリーニング法2004

    • Inventor(s)
      松本 直通, 新川 詔夫他2名
    • Industrial Property Rights Holder
      長崎大学
    • Industrial Property Number
      2004-158099
    • Filing Date
      2004-05-27
    • Related Report
      2004 Annual Research Report

URL: 

Published: 2004-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi