長崎大学医学部業績集

2．研究業績

分子医療部門 人類遺伝学研究分野（原研遺伝）
A

欧文

A-a
1. Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S, Trout KJ, Malik MI, Dunnwald M, Goudy SL, Lovett M, Murray JC,Schutte BC: Abnormal skin, limb and craniofacial morphogenesis in mice deﬁcient for interferon regulatory factor 6（Irf6）. Nat
Genet 38（11）: 1335-1340, 2006（IF: 24.176）＊
2. Matsuzawa N, Shimozato K, Natsume N, Niikawa N, Yoshiura K: A novel missense mutation in Van der Woude syndrome:
Usefulness of ﬁngernail DNA for genetic analysis. J Dent Res 85（12）: 1143-1146, 2006
（IF: 3.475）＊○◎
3. Miura K, Yoshiura K, Miura S, Yamasaki K, Yoshida A, Shimada T, Fujimoto Y, Nakayama D, Ishimaru T, Wagstaff J,Niikawa N, Masuzaki J: Cell-free DNA as a more sensitive molecular marker for evaluation of fetal-maternal hemorrhage thancell-free mRNA. Clin Chem 52（11）: 2121-2123, 2006
（IF: 5.454）＊◎◇
4. Kato N, Sadamatsu M, Kikuchi T, Niikawa N, Fukuyama Y: Paroxysmal kinesigenic choreoathetosis: From ﬁrst discovery in1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res 70（Suppl 1）: S174-184, 2006
（IF: 2.088）＊◎
5. Nagai T, Obata K, Murakami N, Katada Y, Yoshino A, Sakazume S, Tomita Y, Sakuta R, Niikawa N: Growth hormone therapy
and scoliosis in patients with Prader-Willi syndrome. Am J Med Genet 140A: 1623-1627, 2006
（IF: 2.063）＊
6. Matsuzawa N, Nagao T, Shimozato K, Niikawa N, Yoshiura KI. Patched homologue 1 mutations in four Japanese families withbasal cell nevus syndrome. J Clin Pathol 59（10）: 1084-1086. 2006
（IF: 2.245）＊◎
7. Miura K, Yoshiura K, Miura S, Kondoh T, Harada N, Yamasaki K, Fujimoto Y, Yamasaki Y, Tanigawa T, Kitajima T, Shimada
T, Nakayama D, Tagawa M, Yoshimura S, Jinno Y, Ishimaru T, Niikawa N, Masuzaki H: Clinical outcome of infants with
conﬁned placental mosaicism and intrauterine growth restriction of unknown cause. Am J Med Genet 140A（17）: 1827-1833,2006（IF: 2.063）＊◎◇8. Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi T, Niikawa N, Matsumoto N: Array comparative genomic
hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes. Am J Med Genet 140A（18）:
1931-1936, 2006（IF:2.063）＊◎
9. Miura S, Miura K, Yamamoto T, Yamanaka M, Saito K, Hirabuki T, Kurosawa K, Yamasaki Y, Matsumoto N, Hirahara F,
Yohiura K, Masuzaki H, Niikawa N: Origin and mechanisms of formation of fetus-in-fetu: Two cases with genotype andmethylation analyses. Am J Med Genet 140A（16）:1737-1743, 2006
（IF: 2.063）＊◎◇
10. Sato H, Miyamoto T, Yogev L, Namiki M, Koh E, Hayashi H, Sasaki Y, Ishikawa M, Lamb DJ, Matsumoto N, Niikawa N,Sengoku K: Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. J HumGenet 51（6）: 533-540, 2006（IF: 2.205）＊
11. Miura S, Miura K, Masuzaki H, Miyake N, Yoshiura KI, Sosonkina N, Harada N, Shimokawa O, Nakayama D, Yoshimura S,Matsumoto N, Niikawa N, Ishimaru T: Microarray comparative genomic hybridization（CGH）-based prenatal diagnosis forchromosome abnormalities using cell-free fetal DNA in amniotic ﬂuid. J Hum Genet 51（5）: 412-417, 2006
（IF: 2.205）＊◎◇
12. Watanabe A, Akita S, NatsumeN, Nakano Y, Nikawa N, Uchiyama T, Yoshiura K: A mutation in RYK is a genetic factor fornonsyndromic cleft lip and palate. Cleft Palate Craniofac J 43
（3）
: 310-316, 2006
（IF: 0.724）＊○◎◇
13. Kawara H, Yamamoto T, Harada N, Yoshiura K, Niikawa N, Nishimura A, Mizuguchi T, Matsumoto N: Narrowing candidate
region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23. Am J Med Genet 140A（4）: 373-377, 2006
（IF: 2.063）＊
14. Liang D, Wu L, Pan Q, Harada N, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J: A father and son with mental
retardation, a characteristic face inv（12）, and insertion trisomy 12p12.3-p11.2. Am J Med Genet 140A（3）: 238-244, 2006
（IF:2.063）＊
15. Mapendano CK, Kishino T, Miyazaki K, Kondo S, Yoshiura K, Hishikawa Y, Koji T, Niikawa N, Ohta T: Expression of theSnurf-Snrpn IC transcript in the oocyte and putative role in the imprinting establishment of the mouse 7C imprinting domain. JHum Genet 51（3）: 236-243, 2006（IF: 2.205）＊○◇
16. Higashimoto I, Yoshiura K, Hirakawa N, Higashimoto K, Soejima H, Totoki T. Mukai T, Niikawa N: A primary palmar
hyperhidrosis locus maps to 14q11.2-q13. Am J Med Genet 140A（6）: 567-572, 2006
（IF: 2.063）＊○◎
17. Visser R, Hasegawa T, Niikawa N, Matsumoto N: Analysis of the NSD1 promoter region in patients with a Sotos syndrome
phenotype. J Hum Genet 51（1）: 15-20, 2006（IF: 2.205）＊18. Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara
M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M,Nomura M, Linag D-S, Miwa N, Kim D-K, Ariuntuul G, Natsume N, Ohta T, Tomita H, Kikuchi M, Russomando G, Hirayama
K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N: SNP in the ABCC11 gene is thedeterminant of human earwax type. Nat Genet 38（3）: 324-330, 2006
（IF: 24.176）＊◎◇
19. Ichikawa E, Watanabe A, Nakano Y, Hirano A, Akita S, Kinoshita A, Kondo, S, Kishino, T, Uchiyama T, Niikawa N, Yoshiura
K: PAX9 and TGFB3 are susceptible to nonsyndromic cleft lip with or without cleft palate in the Japanese: Population-based

̶ 115 ̶and family-based candidate gene analyses. J Hum Genet 51（1）: 38-46, 2006
（IF: 2.205）＊○◎◇
20. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K,Kaname T, Nagai T, Shotelersuk V, Hou J-W, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura
M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. No detectable genomic aberrations by BAC array CGH in
Kabuki make-up syndrome patients. Am J Med Genet 140A（3）: 291-293, 2006
（IF: 2.063）＊◎
21. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M,Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T,Mizuguchi T, Niikawa N, Matsumoto N: BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J
Med Genet 140A（3）: 205-211, 2006（IF: 2.063）＊◎

A-b
1. Niikawa N: A eulogy to the late Dr. Shiro Miwa. J Hum Genet 51（6）: 503-504, 2006

B邦文B-a
1. 新川詔夫：歌舞伎（メーキャップ）症候群（新川−黒木症候群）．小児内科 38（12）: 2150-2156, 2006B-b
1. 新川詔夫：脳性巨人症．内分泌症候群（第 2 版）
Ⅰ．別冊日本臨床−新領域別症候群シリーズ 1: 224-227, 2006B-c
1. 吉浦孝一郎，新川詔夫：耳垢型は ABCC11 遺伝子の一塩基多型によって決定されている．医学のあゆみ 217（13）:1197-1198, 2006
2. 吉浦孝一郎，新川詔夫：耳垢型は一塩基の違いで決定される．バイオニクス 6: 68-69，2006
3. 新川詔夫：耳垢のタイプ．Medical Technology 10: 1013-1014, 2006.
4. 吉浦孝一郎，霜川 修：遺伝子情報の解析．遺伝子工学【集中マスター】．羊土社．53-64, 2006

B-d
1. 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．戦略的基礎科学研究事業（CREST, JST）平成 17
年研究実施報告書 , 研究終了報告書
2. 新川詔夫：コンソーシアムによる単一遺伝子病の連鎖解析と疾患遺伝子同定．平成 13 年度〜平成 17 年度文部科学省科学研究費補助金，基盤研究（S）研究成果報告書

原著論文数一覧
2006

A–a

A–b

A–c

A–d合計

SCI

B–a

B–b

B–c

B–d

合計

総計

2110022211142830

合計

総計

1317

学会発表数一覧
A–a
2006

0A–bシンポジウム

学会

04

合計

B–a40

̶ 116 ̶B–bシンポジウム

学会

112

長崎大学医学部業績集

原著論文総数に係る教員生産係数一覧

2006

欧文論文総数

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）

0.733

7.333

0.955

7Impact factor 値一覧
2006

Impact factor

教員当たり Impact factor

論文当たり Impact factor

91.93

30.6434.378

̶ 117 ̶2．研究業績