長崎大学医学部業績集

2．研究業績

分子医療部門 変異遺伝子解析研究分野（原研遺伝）A

欧文A−a
1. Mizugichi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H,Niikawa N, Yoshiura K: LRP5, low density lipoprotein receptor-related protein 5, is a determinant for bone mineral density(BMD). J Hum Genet 49 (2): 80-86, 2004 ＊ ◎◇2. Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y,Shimokawa O, Ida T, Nagai T, Fukushima Y, Niikawa N, Matsumoto N: Subtelomere specific microarray based comparative
genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 41(2): 130-136, 2004 ＊ ◎3. Masuzaki H, Miura K, Yoshiura K, Yoshimura S, Ishimaru T: A monozygotic conjoined twin pregnancy discordant forlaterality of cleft lip. Gynecol Obstet Invest 57 (2): 100-102, 2004 ＊ ◎◇4. Yamada T, Mitsuya K, Kayashima T, Yamasaki K, Ohta T, Yoshiura K, Matsumoto N, Yamada H, Minakami H, Oshimura
M, Niikawa N, Kishino T: Imprinting analysis of 10 genes and/or transcripts in a 1.5-Mb MEST-flanking region at humanchromosome 7q32. Genomics 83 (3): 402-412, 2004 ＊ ○◇5. Iwata K, Takamura N, Nakashima M, Alipov G, Mine M, Matsumoto N, Yoshiura K, Prouglo Y, Sekine I, Katayama I,
Yamashita S: Loss of heterozygosity on chromosome 9q22.3 in microdissected basal cell carcinoma around Semipalatinsk
nuclear testing site, Kazakhstan. Hum Pathol 35 (4): 460-464, 2004 ＊ ○6. Masuzaki H, Miura K, Yoshiura K, Yoshimura S, Niikawa N, Ishimaru T: Detection of cell-free placental DNA in maternal
plasma: Direct evidence from three cases of confined placental mosaicism. J Med Genet 41 (4): 289-292, 2004 ＊ ◎◇7. Matsuzawa N, Yoshiura K, Machida J, Nakamura T, Niimi T, Furukawa H, Toyoda T, Natsume N, Shimozato K, Niikawa
N: Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. Oral Surg Oral MedOral Pathol Oral Radiol Endod 98 (4): 414-417, 2004 ＊ ◎◇8. Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Pasalar P, Komatsu K, Najafi MT,Niikawa N, Yoshiura K: An isolated congenital anosmia locus maps to 18p11.23-q12.2. J Med Genet 41 (4): 299-303, 2004
＊ ◎◇9. Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N: 9q34.3 deletion
syndrome in three unrelated children. Am J Med Genet 126A (3): 278-283, 2004 ＊10. Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N:
Phenotype-genotype correlation in two patients with 12q proximal deletion. J Hum Genet 49 (5): 282-284, 2004 ＊ ◎◇11. Kinoshita A, Shirahama A, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Seidel J, Fukumaki Y,Ikegawa S, Niikawa N, Yoshiura K: TGFB1 mutations in four new families with Camurati-Engelmann disease:
Confirmation of independently arising LAP-domain-specific mutations. Am J Med Genet 127A (1): 104-107, 2004 ＊ ◎◇12. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N: A rapid diagnostic method for a retrotransposal insertional
mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet 127A
(1): 54-57, 2004 ＊ ◎13. Clayton EW, Knoppers BM, Qiu R, Kent A, Dunston GM, Kato K, Niikawa N, Foster MW, Adewole IF, Watkin J, Zhang
H, Zeng C, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Aniagwu T, Marshall PA, MatthewO, Nkwodimmah C, Royal CDM, Leppert MF, Dixon M, Valle DL, Jorde LB, Belmont JW, Chakravarti A, Cho MK,Duster T, Foster MW, Jasperse M, Kwok PW, Licinio J, Long JC, Ossorio PN, Wang VO, Rotimi CN, Spallone P, Terry
SF, Gibbs RA, Belmont JW, Sodergren E, Weinstock GM, Birren BW, Wilson RK, Fulton LL, Rogers J, Feolo M, Altshuler
D, Daly MJ, Schaffner SF, Stein LD, Cunningham F, Kanani A, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk
CS, Lin S, Donnelly P, Marchini J, McVean GAT, Myers SR, Hardenbol P, Willis TD, Yu F, Altshuler D, Yang H, Ch'ang
LY, Huang W, Liu B, Yan S, Tam PKH, Tsui L-C, Waye MMY, Wong JT-F, Zeng C, Zhang Q, Chee MS, Galver LM,
Kruglyak S, Murray SS, Oliphant AR, Montpetit A, Chagnon F, Bellemare V, Todani K, Fujita T, Tanaka S, Holden AL,Lai EH, Collins FS, McEwen JE, Brooks LD, Guyer MS, Jordan E, Peterson JL, Spiegel J, Sung LM, Zacharia LF, Dunn
MG, Seabrook R, Shillito M, Skene B, Stewart JG, LanderE, Nickerson DA, Abecasis GR, Altshuler D, Bentley DR,Boehnke M, Cardon LR, Daly MJ, Deloukas P, Douglas JA, Gabriel SB, Hudson RR, Hudson TJ, Kruglyak L, Kwok PY,Nakamura Y, Nussbaum RL, Royal CDM, Sherry ST, Tanaka T (The International HapMap Consortium): Integrating
ethics and science in the International HapMap Project. Nat Rev Genet 5 (6): 467-475, 2004 ＊14. Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Kinoshita A, Najafi M-T, Niikawa N, Yoshiura
K: Isolated congenital anosmia with morphologically normal olfactory bulb in two unrelated Iranian families: A new clinicalentity? Am J Med Genet 127A (3): 307-309, 2004 ＊ ◎◇15. Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N,

−113−

16.

17.

18.

19.

20.

21.
22.
23.

24.
25.
26.

Matsumoto N: A novel GATA4 mutation completely segregated with atrial septal defect in a large Japnese family. J MedGenet 41 (7): e97, 2004 ＊ ◎◇Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura K, Ohta T,Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N: The IHPK1 gene is disrupted at the 3p21.31
breakpoint of t(3;9) in a family with type 2 diabetes mellitus. J Hum Genet 49 (7): 360-365, 2004 ＊ ◎◇Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk Y,
Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N: On the reported 8p22-p23.1 duplication in Kabuki make-up
syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet 128A (2): 170-172, 2004 ＊ ○◎◇Shimokawa O, Kurosawa K, Ida T, Harada N, Kondoh T, Miyake N, Yoshiura K, Kishino T, Ohta T, Niikawa N,Matsumoto N: Molecular characterization of inv dup del(8p): analysis of five cases. Am J Med Genet 128A (2): 133-137,
2004 ＊ ◎Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, Caprau D, Christensen K, Suzuki Y,Machida J, Natsume N, Yoshiura K, Vieira AR, Orioli IM, Castilla EE, Moreno L, Arcos-Burgos M, Lidral AC, Field LL,Liu YE, Ray A, Goldstein TH, Schultz RE, Shi M, Johnson MK, Kondo S, Schutte BC, Marazita ML, Murray JC: Interferon
regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351 (8): 769-780, 2004 ＊Mizuguchi T, Collod-Beroud G, Akiyama T, Harada N, Morisaki T, Abifadel M, Allard D, Varret M, Claustres M, Ihara M,Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Niikawa N, Boileau C, Matsumoto N: Heterozygous TGFBR2mutations in Marfan syndrome. Nat Genet 36 (8): 855-860, 2004 ＊ ○◎◇Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N: A 1-Mb
critical region in six patients with 9q34.3 terminal deletion syndrome. Hum Genet 49 (8): 440-444, 2004 ＊ ◎Masuzaki H, Miura K, Miura S, Yoshiura K, Mapendano CK, Nakayama D, Yoshimura S, Niikawa N, Ishimaru T: Laborincreases maternal DNA contamination in cord blood. Clin Chem 50 (9): 1709-1711, 2004 ＊ ◎◇Kurosawa K, Harada N, Sosonkina N, Niikawa N, Matsumoto N, Saitoh S: Unmasking 15q12 deletion using microarraybased comparative genomic hybridization in a mentally retarded boy with r(Y). Am J Med Genet 130A (3): 322-324, 2004
＊ ○◎◇Masuzaki H, Miura K, Yoshimura S, Yoshiura K, Ishimaru T: A monozygotic twin pregnancy discordant for acardia and Xinactivation pattern. Eur J Obstet Gynecol Reprod Biol 117 (1): 102-104, 2004 ＊ ◎◇Matsumoto T, Niikawa N: Eight novel microsatellite markers in the 3' region of the dystrophin gene useful for diagnosis ofDuchenne muscular dystrophy. Prenat Diagn 24 (12): 1014-1015, 2004 ＊Niikawa N: Molecular basis of Sotos syndrome. Horm Res 62 (Suppl 3): 60-65, 2004 ＊B 邦文B−b
1． 新川詔夫：メンデル遺伝とその他の遺伝．母子保健情報 49：16-20，2004
2． 新川詔夫：単一遺伝子による内分泌疾患の発症機構．小児科診療 10(13)：1585-1590，2004
3． 水口 剛，松本直通：ヘテロ接合性TGFBR2変異がMarfan症候群2型の原因である．医学のあゆみ 210(12)：1010-1011，2004
4． 霜川 修，新川詔夫：染色体検査．臨床精神医学(増刊号)：484-489，2004
5． 新川詔夫：ゲノム医学における倫理的課題．科学 74(5)：596-601，2004

B−c
1． 副島英伸，太田 亨，木住野達也，新川詔夫，向井常博：インプリンティングドメインの異常と疾患．(佐々木裕之(編)：エピジェネティクス，Springer Reviews 所収) 2004B−d
1． 吉浦孝一郎，夏目長門：顔面奇形の発生抑制遺伝子の解析．平成15年度科学研究費補助金(特定領域研究(2)「ゲノム医科学」)研究成果報告書，2004
2． 新川詔夫：染色体転座・微細欠失からの疾病遺伝子の単離と解析．平成15年度日本科学技術振興機構・戦略的基礎科学研究事業(CREST)研究成果報告書，2004
3． 新川詔夫，木住野達也：骨粗鬆症およびゲノム刷り込み関連遺伝子群の解明．平成15年度科学研究費補助金(特定領域研究(2)「ゲノム医科学」)研究成果報告書，2004
4． 木下 晃：骨リモデリング研究のためのモデルマウス作製と確立．平成15年度科学研究費補助金(若手研究(B))−114−長崎大学医学部業績集

2．研究業績

研究実績報告書，2004

原著論文数一覧
2004

A−aA−bA−cA−d合計SCI

B−aB−bB−cB−d

合計

総計26000262605141036

学会発表数一覧
A−bA−a2004

シンポジウム

学会

141

合計

B−a62B−bシンポジウム

学会

111

原著論文総数に係る教員生産係数一覧
欧文論文総数2004

教員生産係数SCI掲載論文数

教員生産係数論文総数（欧文論文）

欧文論文総数（SCI掲載論文）

0.722

6.5

16.5

Impact factor 値一覧
2004

Impact factor

教員当たり Impact factor

論文当たり Impact factor

156.04839.012

6.002

−115−

合計

総計

1420