Mapping of the disease loci using SNP genotyping and identification of the gene by the sequence capture method

• Project/Area Number: 21390100
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Nagasaki University
• Principal Investigator: YOSHIURA Koichiro 長崎大学, 大学院・医歯薬学総合研究科, 教授 (00304931)
• Co-Investigator(Kenkyū-buntansha): TSUJINO Akira 長崎大学, 病院, 講師 (70423639)
• Co-Investigator(Renkei-kenkyūsha): KINOSHITA Akira 長崎大学, 大学院・医歯薬学総合研究科, 講師 (60372778) ; MISHIMA Hiroyuki 長崎大学, COE研究員 (10513319) ; OGI Tomoo 長崎大学, 大学院・医歯薬学総合研究科, 助教 (80508317) ; ARIMA Kazuhiko 長崎大学, 大学院・医歯薬学総合研究科, 助教 (30423635) ; NIIKAWA Norio 北海道医療大学, 学長 (00111170) ; OTA Toru 北海道医療大学, 個体差健康科学研究所, 准教授 (10223835) ; IDA Hiroaki 久留米大学, 医学部・内科学講座呼吸器神経膠原病内科部門, 准教授 (60363496) ; KANAZAWA Nobuo 和歌山県立医科大学, 医学部・皮膚学講座, 講師 (90343227)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥18,720,000 (Direct Cost: ¥14,400,000、Indirect Cost: ¥4,320,000); Fiscal Year 2011: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000); Fiscal Year 2010: ¥6,500,000 (Direct Cost: ¥5,000,000、Indirect Cost: ¥1,500,000); Fiscal Year 2009: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
• Keywords: ゲノム医科学 / 次世代型シーケンサー / エキソンキャプチャー法 / 歌舞伎症候群 / 筋萎縮性側索硬化症 / emulsion PCR / SOLiD / 骨髄異形成症 / 遺伝子座マッピング / 脳動静脈奇形 / 軟口蓋裂

Research Abstract

We aimed to develop the method to enrich the exon capture and to identify the disease gene applying the capture method to next generation sequencer. We identified the genes for Kabuki syndrome, Nakajyo-Nishimua syndrome and UV sensitive syndrome complementation group A.

Research Products

• [Journal Article] Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome (2011)
  • Author(s): Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N
  • Journal Title: Clin Genet Volume: 80 Pages: 478-483
• [Journal Article] Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred (2011)
  • Author(s): Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K
  • Journal Title: Eur Respir J Volume: 38(4) Pages: 861-869
• [Journal Article] Significance of Genomic Instability in Breast Cancer in Atomic Bomb Survivors : Analysis of Microarray-Comparative Genomic Hybridization (2011)
  • Author(s): Oikawa M, Yoshiura KI, Kondo H, Miura S, Nagayasu T, Nakashima M
  • Journal Title: Radiat Oncol Volume: 6(1) Pages: 168-168
• [Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology (2011)
  • Author(s): Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura KI, Masuzaki H
  • Journal Title: J Obstet Gynaecol Res Volume: 37(11) Pages: 1666-1670
  • NAID: 120006985461
• [Journal Article] Agile parallel bioinformatics workflow management using Pwrake (2011)
  • Author(s): Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura KI
  • Journal Title: BMC Res Notes Sep Volume: 8 Pages: 331-331
  • NAID: 120006985006
• [Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome (2011)
  • Author(s): Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana K, Niikawa N, Furukawa F, Shigeo Murata S, Eguchi K, Ida H, Yoshiura K
  • Journal Title: Proc Natl Acad Sci Volume: 108(36) Pages: 14914-14919
• [Journal Article] Spectrum of MLL2(ALR) mutations in 110 cases of Kabuki syndrome (2011)
  • Author(s): Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Lian
  • Journal Title: Am J Med Genet A Volume: 155A(7) Pages: 1511-1516
• [Journal Article] Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma : Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays (2011)
  • Author(s): Oikawa M, Nagayasu T, Yano H, Hayashi T, Abe K, Kinoshita A, Yoshiura KI
  • Journal Title: Breast J Volume: 17(4) Pages: 427-430
  • NAID: 120006985138
• [Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis (2011)
  • Author(s): Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Hiroki Ozawa H
  • Journal Title: PLos One Volume: 6(5)
  • NAID: 120006985084
• [Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women (2011)
  • Author(s): Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H
  • Journal Title: J Hum Genet Volume: 56(4) Pages: 313-315
  • NAID: 10030658951
• [Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders (2011)
  • Author(s): Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H
  • Journal Title: J Hum Genet Volume: 56(4) Pages: 296-299
  • NAID: 10030658849
• [Journal Article] Mutation and Copy Number Analysis in Paroxysmal Kinesigenic Dyskinesia Families (2011)
  • Author(s): Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A
  • Journal Title: Movement Disorders Volume: 26(4) Pages: 762-764
• [Journal Article] Coding region polymorphisms in the indoleamine 2, 3-dioxygenase(INDO) gene and recurrent spontaneous abortion (2011)
  • Author(s): Amani D, Ravangard F, Niikawa N, Yoshiura KI, Karimzadeh M, Dehaghani AS, Ghaderi A
  • Journal Title: J Reprod Immunol Volume: 88(1) Pages: 42-47
• [Journal Article] SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice (2011)
  • Author(s): Okada I, Hamanoue H., Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusak
  • Journal Title: Am J Hum Genet Volume: 88(1) Pages: 1-12
• [Journal Article] Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome (2011)
  • Author(s): Sasaki, et al
  • Journal Title: Clinical Genetics Volume: 80 Issue: 5 Pages: 478-483
  • DOI: 10.1111/j.1399-0004.2010.01599.x
  • Peer Reviewed
• [Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis (2011)
  • Author(s): Kurotaki, et al
  • Journal Title: PLos One Volume: 6(5) Issue: 5 Pages: e20589-e20589
  • DOI: 10.1371/journal.pone.0020589
  • Peer Reviewed
• [Journal Article] Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion (2011)
  • Author(s): Amani, et al
  • Journal Title: J Reprod Immunol Volume: 88(1) Issue: 1 Pages: 42-47
  • DOI: 10.1016/j.jri.2010.07.007
  • Peer Reviewed
• [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011)
  • Author(s): Hannibal, et al
  • Journal Title: Am J Med Genet A Volume: 115A(7) Issue: 7 Pages: 1511-1516
  • DOI: 10.1002/ajmg.a.34074
  • Peer Reviewed
• [Journal Article] Agile parallel bioinformatics workflow management using Pwrake (2011)
  • Author(s): Mishima, et al
  • Journal Title: BMC Res Notes Volume: 4(1) Issue: 1 Pages: 331-331
  • DOI: 10.1186/1756-0500-4-331
  • NAID: 120006985006
  • Peer Reviewed
• [Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology (2011)
  • Author(s): Yamasaki, et al
  • Journal Title: J Obstet Gynecol Res Volume: 37(11) Issue: 11 Pages: 1666-1670
  • DOI: 10.1111/j.1447-0756.2011.01601.x
  • Peer Reviewed
• [Journal Article] Significance of genomic instability in breast cancer in atomic bomb survivors : analysis of microarray-comparative genomic hybridization (2011)
  • Author(s): Oikawa, et al
  • Journal Title: Radiat Oncol Volume: 6 Issue: 1 Pages: 168-168
  • DOI: 10.1186/1748-717x-6-168
  • Peer Reviewed
• [Journal Article] A type of familial cleft of the soft palate maps to 2p24. 2-p24. 1 or 2p21-p12 (2010)
  • Author(s): Tsuda M, Yamada T, Mikoya T, Sogabe I, Nakashima M, Minakami H, Kishino T, Kinoshita A, Niikawa N, Hirano A, Yoshiura K
  • Journal Title: J Hum Genet Volume: 55(2) Pages: 124-126
• [Journal Article] Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome (2010)
  • Author(s): Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura KI, Kitaoka T
  • Journal Title: J Hum Genet Volume: 55(3) Pages: 142-146
  • NAID: 10030733893
• [Journal Article] A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1 (2010)
  • Author(s): Miura K, Miura S, Yoshiura K, Seminara S, Hamaguchi D, Niikawa N, Masuzaki H
  • Journal Title: Hum Reprod Volume: 25(4) Pages: 1076-1080
• [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010)
  • Author(s): Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J
  • Journal Title: Nat Genet Volume: 42(9) Pages: 790-793
• [Journal Article] Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome (2010)
  • Author(s): Matsuzawa N, Kondo S, Shimozato K, Nagao T, Nakano M, Tsuda M, Hirano A, Niikawa N, Yoshiura K
  • Journal Title: Am J Med Genet A Volume: 152A(9) Pages: 2262-2267
• [Journal Article] The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma (2010)
  • Author(s): Miura K, Miura S, Yamasaki K, Shimada T, Kinoshita A, Niikawa N, Yoshiura K, Masuzaki H
  • Journal Title: Prenatal Diagnosis Volume: 30 Pages: 849-861
• [Journal Article] Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11 : linkage analysis with clipped fingernail DNA on high-density SNP array (2010)
  • Author(s): Oikawa M, Kuniba H, Kondoh T, Kinoshita A, Nagayasu T, Niikawa N, Yoshiura K
  • Journal Title: Eur J Med Genet Volume: 53(5) Pages: 244-249
  • NAID: 120006984921
• [Journal Article] Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia (2010)
  • Author(s): Ono S, Imamura A, Tasaki S, Kurotaki N, Ozawa H, Yoshiura K, Okazaki Y
  • Journal Title: Twin Res Hum Genet Volume: 13(5) Pages: 455-460
• [Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma (2010)
  • Author(s): Miura K, Miura S, Yamasaki K, Higashijima A, Kinoshita A, Yoshiura KI, Masuzaki H
  • Journal Title: Clin Chem Volume: 56(11) Pages: 1767-1771
• [Journal Article] Endo I and Shimada H. Association between breast cancer risk and the wild-type allele of human ABC transporter ABCC11 (2010)
  • Author(s): Ota I, Sakurai A, Toyoda Y, Morita S, Sasaki T, Chishima T, Yamakado M, Kawai Y, Ishidao T, Lezhava A, Yoshiura K-i, Togo S, Hayashizaki Y, Ishikawa T, Ishikawa T
  • Journal Title: Anticancer Res Volume: 30(12) Pages: 5189-5194
• [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12. (2010)
  • Author(s): Tsuda M., et al.
  • Journal Title: Journal of Human Genetics Volume: 55 Pages: 124-126
  • Peer Reviewed
• [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (2010)
  • Author(s): Ng SB., et al.
  • Journal Title: Nature Genetics Volume: 42 Pages: 790-793
  • Peer Reviewed
• [Journal Article] Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma. (2010)
  • Author(s): Miura K., et al.
  • Journal Title: Clinical Chemistry Volume: 56 Pages: 1767-1771
  • Peer Reviewed
• [Journal Article] Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia. (2010)
  • Author(s): Ono S., et al.
  • Journal Title: Twin Research and Human Genetics Volume: 13 Pages: 455-460
  • Peer Reviewed
• [Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia (2009)
  • Author(s): Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q, Long Z, Zhou Z, Yoshiura K, Wang H, Sato D, Nishimura G, Dai H, Zhang X, Xia J
  • Journal Title: Am J Med Genet A Volume: 149A(4) Pages: 816-818
• [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D (2009)
  • Author(s): Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura KI, Niikawa N.
  • Journal Title: Am J Med Genet A Volume: 149A(4) Pages: 785-787
• [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/ Snrpn gene (2009)
  • Author(s): Miyazaki K, Mapendano CK, Fuchigami T, Kondo S, Ohta T, Kinoshita A, Tsukamoto K, Yoshiura KI, Niikawa N, Kishino T
  • Journal Title: Gene Volume: 432(1-2) Pages: 97-101
• [Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11. 23 (2009)
  • Author(s): Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N
  • Journal Title: Am J Med Genet A Volume: 149A(3) Pages: 336-342
• [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome (2009)
  • Author(s): Kuniba H, Yoshiura K, Kondoh T, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Kaname T, Naritomi K, Matsumoto T, Moriuchi H, Kishino T, Kinoshita A, Miyake N, Matsumoto N, Niikawa N
  • Journal Title: J Hum Genet Volume: 54(5) Pages: 304-309
  • NAID: 10030730501
• [Journal Article] Earwax, osmidrosis, and breast cancer why does one SNP(538G> A) in the human ABC transporter ABCC11 gene determine earwax type? (2009)
  • Author(s): Toyoda Y, Sakurai A, Mitani Y, Nakashima M, Yoshiura KI, Nakagawa H, Sakai Y, Ota I, Lezhava A, Hayashizaki Y, Niikawa N, Ishikawa T.
  • Journal Title: FASEB J Volume: 23(6) Pages: 2001-2013
• [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene (2009)
  • Author(s): Nakano M, Miwa N, Hirano A, Yoshiura K, Niikawa N
  • Journal Title: BMC Genet Volume: 10 Pages: 42-42
  • NAID: 120006983999
• [Journal Article] Searching for genes for cleft lip and/ or palate based on breakpoint analysis of a balanced translocation t(9 ; 17)(q32 ; q12) (2009)
  • Author(s): Machida J, Felix TM, Murray JC, Yoshiura K, Tanemura M, Kamamoto M, Shimozato K, Sonta S, Ono T
  • Journal Title: Cleft Palate Craniofac J Volume: 46(5) Pages: 532-540
• [Journal Article] The Super Science High School Consortium. Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium (2009)
  • Journal Title: J Hum Genet Volume: 54(9) Pages: 499-503
• [Journal Article] Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/ or Palate (2009)
  • Author(s): Kimani JW, Yoshiura K, Shi M, Jugessur A, Moretti-Ferreira D, Christensen K, Murray JC.
  • Journal Title: Twin Res Hum Genet Volume: 12(5) Pages: 462-468
• [Journal Article] Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. (2009)
  • Author(s): Kuniba, et al.
  • Journal Title: American Journal of Medical Genetics Part A Volume: 149(A) Pages: 785-787
  • Peer Reviewed
• [Journal Article] A ZRS duplication causes syndactyly type IV with tibial hypoplasia. (2009)
  • Author(s): Wu, et al.
  • Journal Title: American Journal of Medical Genetics Part A Volume: 149(A) Pages: 816-818
  • Peer Reviewed
• [Journal Article] Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpngene. (2009)
  • Author(s): Miyazaki, et al.
  • Journal Title: Gene Volume: 432 Pages: 97-101
  • Peer Reviewed
• [Journal Article] A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. (2009)
  • Author(s): Hamanoue, et al.
  • Journal Title: American Journal of Medical Genetics Part A Volume: 149(A) Pages: 336-342
  • Peer Reviewed
• [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. (2009)
  • Author(s): Kuniba, et al.
  • Journal Title: Journal of Human Genetics Volume: 54(5) Pages: 304-309
  • Peer Reviewed
• [Journal Article] Earwax, osmidrosis, and breast cancer : why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type? (2009)
  • Author(s): Toyoda, et al.
  • Journal Title: FASEB Journal Volume: 23 Pages: 2001-2013
  • Peer Reviewed
• [Journal Article] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. (2009)
  • Author(s): Nakano, et al.
  • Journal Title: BMC Genetics Volume: 10 Pages: 42-42
  • Peer Reviewed
• [Journal Article] Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). (2009)
  • Author(s): Machida, et al.
  • Journal Title: Cleft Palate Craniofac J. Volume: 46 Pages: 532-540
  • Peer Reviewed
• [Journal Article] Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium. (2009)
  • Author(s): The Super Science High School Consortium.
  • Journal Title: Journal of Human Genetics Volume: 54(9) Pages: 499-503
  • Peer Reviewed
• [Journal Article] A type of familial cleft of the soft palate maps to 2p24.2-p24.1 (2009)
  • Author(s): Kimani, et al.
  • Journal Title: Twin Research and Human Genetics Volume: 12(5) Pages: 462-468
  • Peer Reviewed
• [Presentation] (2011)
  • Organizer: 第18回出生前診断研究会
  • Place of Presentation: 佐賀大学医学部臨床大講堂,佐賀
  • Year and Date: 2011-10-01
• [Presentation] Lenz小眼球症候群を呈する一家系の原因遺伝子解析 (2011)
  • Author(s): 要匡, その他
  • Organizer: 第18回出生前診断研究会
  • Place of Presentation: 佐賀大学医学部臨床大講堂
  • Year and Date: 2011-10-01
• [Presentation] (2011)
  • Organizer: 第7回広島大学・長崎大学連携研究事業カンファランス.放射線災害医療の国際教育拠点確立に向けた機関連携事業
  • Place of Presentation: 広島大学霞キャンパス,広島
  • Year and Date: 2011-06-04
• [Presentation] microarray CGH解析によるヒバクシャ乳癌におけるゲノム不安定性の同定 (2011)
  • Author(s): 及川将弘, その他
  • Organizer: 第7回広島大学・長崎大学連携研究事業カンファランス
  • Place of Presentation: 広島大学霞キャンパス
  • Year and Date: 2011-06-04
• [Presentation] (2011)
  • Organizer: 12th Unternational Congress of Human Genetics and The American Society of Human Genetics, 61st Annual Meeting
  • Place of Presentation: Montoreal, Canada
• [Presentation] (2011)
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜,横浜
• [Presentation] (2011)
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ,千葉
• [Presentation] Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis (2011)
  • Author(s): Kurotaki, et al
  • Organizer: 12^<th> Unternational Congress of Human Genetics and The American Society of Human Genetics, 61^<st> Annual Meeting
  • Place of Presentation: Montoreal
• [Presentation] Detection of a mutation in Lents micropthalmia family by exome sequencing (2011)
  • Author(s): Kaname, et al
  • Organizer: 12^<th> Unternational Congress of Human Genetics and The American Society of Human Genetics, 61^<st> Annual Meeting
  • Place of Presentation: Montoreal
• [Presentation] The Ruby UCSC SPI : accessing the UCSC Genoe Database using Ruby (2011)
  • Author(s): Mishima, et al
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜
• [Presentation] 免疫プロテアソームの形成以上と活性低下により自己炎症疾患中條-西村症候群が発症する (2011)
  • Author(s): 木下晃, その他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] SNPマイクロアレイを用いたホモザイゴシティーマッピング (2011)
  • Author(s): 三嶋博之, その他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] 子宮体癌特異的microRNAの同定とその有用性に関する検討 (2011)
  • Author(s): 城大空, その他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] HPV-DNA型別による持続感染と子宮頸部細胞診の変化 (2011)
  • Author(s): 山崎健太郎, その他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] SMOCは眼球・四肢発症に重要である (2011)
  • Author(s): 浜之上はるか, 他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] アレイ染色体検査で同定したJoubert症候群の一例 (2011)
  • Author(s): 松井健, その他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] ホモ接合マッピングによる統合失調症の感受性遺伝子の同定 (2011)
  • Author(s): 黒滝直之, その他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] OpitzC様症候群(Bohring-Opitz症候群)におけるASXL1遺伝子変異 (2011)
  • Author(s): 要匡, その他
  • Organizer: 第56回日本人類遺伝学会
  • Place of Presentation: 幕張メッセ
• [Presentation] ホールエクソンキャプチャーによる歌舞伎メーキャップ症候群の解析 (2010)
  • Author(s): 要匡
  • Organizer: 日本分子生物学会
  • Place of Presentation: 神戸ポートアイランド
  • Year and Date: 2010-12-10
• [Presentation] Key-value storeを用いた大規模ゲノムデータ処理の高速化 (2010)
  • Author(s): 三嶋博之
  • Organizer: 日本分子生物学会
  • Place of Presentation: 神戸ポートアイランド
  • Year and Date: 2010-12-09
• [Presentation] Discovery of a gene for Kabuki syndrome by exome sequencing and genotype-phenotype relationship in 110 cases. (2010)
  • Author(s): Bamshad. M.C.
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 大宮ソニックシティー
  • Year and Date: 2010-10-29
• [Presentation] 乳癌FFPE標本を用いたAgilent SurePrint G3 microarrayによるアレイCGHの最適化 (2010)
  • Author(s): 及川将弘
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: 大宮ソニックシティー
  • Year and Date: 2010-10-29
• [Presentation] (2010)
  • Organizer: 第6回広島大学・長崎大学連携研究事業カンファランス.放射線災害医療の国際教育拠点確立に向けた機関連携事業
  • Place of Presentation: 長崎大学医学部ボードインホール,長崎
  • Year and Date: 2010-06-05
• [Presentation] (2010)
  • Organizer: 20th ISUOG World Congress
  • Place of Presentation: Prague, Czech Republic
• [Presentation] (2010)
  • Organizer: The American Society of Human Genetics, 59th Annual Meeting. Washigton D. C
  • Place of Presentation: Baltimore
• [Presentation] (2010)
  • Organizer: 第33回日本分子生物学会年会・第83回日本生化学会大会合同大会
  • Place of Presentation: 神戸ポートアイランド,神戸
• [Presentation] (2010)
  • Organizer: The 35th Annual Meeting of the Japanese Society for Investigative Dermatology
  • Place of Presentation: Wakayama Prefectural Cultural Hall(和歌山県民文化会館)
• [Presentation] (2010)
  • Organizer: 第55回日本人類遺伝学会
  • Place of Presentation: 大宮ソニックシティー,大宮
• [Presentation] (2010)
  • Organizer: 第48回日本婦人科腫瘍学会
  • Place of Presentation: つくば国際会議場、茨城
• [Presentation] (2010)
  • Organizer: 第34回日本口蓋裂学会総会・学術集会
  • Place of Presentation: 北とぴあ,東京
• [Presentation] (2010)
  • Organizer: 第106回日本精神神経学会学術総会
  • Place of Presentation: 広島国際会議場,広島
• [Presentation] (2010)
  • Organizer: 第110回日本外科学会総会
  • Place of Presentation: 名古屋国際会議場,名古屋
• [Presentation] (2009)
  • Organizer: The American Society of Human Genetics, 59th Annual Meeting
  • Place of Presentation: Honolulu, Hawaii
• [Presentation] (2009)
  • Organizer: 第16回日本遺伝子診療学会
  • Place of Presentation: ホテル札幌ガーデンパレス,札幌
• [Presentation] (2009)
  • Organizer: 第54回日本人類遺伝学会
  • Place of Presentation: グランドプリンスホテル高輪,東京
• [Presentation] Brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 and 18p11 : Linkage analysis with clipped fingernail DNA on SNP array. (2009)
  • Author(s): Kuniba, et al.
  • Organizer: The American Society of Human Genetics, 59^<th> Annual Meeting
  • Place of Presentation: Honolulu, Hawaii
• [Presentation] Resequencing of the whole candidate region for 16q22-linked spinocerebellar ataxia in Japanese individuals using next-generation sequencing. (2009)
  • Author(s): Kaname, et al.
  • Organizer: The American Society of Human Genetics, 59^<th> Annual Meeting
  • Place of Presentation: Honolulu, Hawaii
• [Presentation] 軟口蓋裂および粘膜下口蓋裂のゲノムワイド連鎖解析 (2009)
  • Author(s): 津田雅由, 他
  • Organizer: 第16回日本遺伝子診療学会
  • Place of Presentation: ホテル札幌ガーデンパレス, 札幌
• [Book] カラー図解 基礎から疾患までわかる遺伝学 (2009)
  • Author(s): 新川詔夫, 吉浦孝一郎(監訳)
  • Total Pages: 521
  • Publisher: メディカル・サイエンス・インターナショナル
• [Book] カラー図解基礎から疾患までわかる遺伝学
  • Author(s): Eberhard Passarge
  • Publisher: メディカル・サイエンス・インターナショナル