Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

被引：43
作者：
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
Yoshiura, K
Niikawa, N
Matsumoto, N
机构：
[1] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 8528523, Japan
[2] Japan Sci & Technol Corp, CREST, Kawaguchi, Japan
[3] Kyushu Med Sci Nagasaki Lab, Nagasaki, Japan
[4] Cold Spring Harbor Lab, Genome Res Ctr, New York, NY USA
[5] Osaka Med Ctr, Dept Planning & Res, Osaka, Japan
[6] Res Inst Maternal & Child Hlth, Osaka, Japan
[7] Yamaguchi Univ, Sch Med, Fac Hlth Sci, Ube, Yamaguchi 755, Japan
[8] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan
[9] Nagano Childrens Hosp, Div Med Genet, Nagano, Japan
[10] Nagasaki Univ, Grad Sch Biomed Sci, Dept Pediat, Nagasaki 852, Japan
[11] Saitama Childrens Med Ctr, Div Med Genet, Saitama, Japan
[12] Arida Municipal Hosp, Div Pediat, Wakayama, Japan
[13] Dokkyo Univ, Sch Med, Koshigaya Hosp, Dept Pediat, Koshigaya, Japan
[14] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 390, Japan
[15] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan
来源：
JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 02期
关键词：
D O I：
10.1136/jmg.2003.014639
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：130 / 136
页数：7
相关论文
共 28 条
  • [1] Introduction - Genetics of mental retardation
    Battaglia, A
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2003, 117C (01): : 1 - 2
  • [2] The end of the beginning of chromosome ends
    Biesecker, LG
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 107 (04): : 263 - 266
  • [3] Borgaonkar DS, 1997, CHROMOSOMAL VARIATIO
  • [4] High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
    Bruder, CEG
    Hirvelä, C
    Tapia-Paez, I
    Fransson, I
    Segraves, R
    Hamilton, G
    Zhang, XX
    Evans, DG
    Wallace, AJ
    Baser, ME
    Zucman-Rossi, J
    Hergersberg, M
    Boltshauser, E
    Papi, L
    Rouleau, GA
    Poptodorov, G
    Jordanova, A
    Rask-Andersen, H
    Kluwe, L
    Mautner, V
    Sainio, M
    Hung, G
    Mathiesen, T
    Möller, C
    Pulst, SM
    Harder, H
    Heiberg, A
    Honda, M
    Miimura, M
    Sahlén, S
    Blennow, E
    Albertson, DG
    Pinkel, D
    Dumanski, JP
    [J]. HUMAN MOLECULAR GENETICS, 2001, 10 (03) : 271 - 282
  • [5] A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
    Buckley, PG
    Mantripragada, KK
    Benetkiewicz, M
    Tapia-Páez, I
    de Ståhl, TD
    Rosenquist, M
    Ali, H
    Jarbo, C
    de Bustos, C
    Hirvelä, C
    Wilén, BS
    Fransson, I
    Thyr, C
    Johnsson, BI
    Bruder, CEG
    Menzel, U
    Hergersberg, M
    Mandahl, N
    Blennow, E
    Wedell, A
    Beare, DM
    Collins, JE
    Dunham, I
    Albertson, D
    Pinkel, D
    Bastian, BC
    Faruqi, AF
    Lasken, RS
    Ichimura, K
    Collins, VP
    Dumanski, JP
    [J]. HUMAN MOLECULAR GENETICS, 2002, 11 (25) : 3221 - 3229
  • [6] Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays
    Cai, WW
    Mao, JH
    Chow, CW
    Damani, S
    Balmain, A
    Bradley, A
    [J]. NATURE BIOTECHNOLOGY, 2002, 20 (04) : 393 - 396
  • [7] Telomeres: a diagnosis at the end of the chromosomes
    de Vries, BBA
    Winter, R
    Schinzel, A
    van Ravenswaaij-Arts, C
    [J]. JOURNAL OF MEDICAL GENETICS, 2003, 40 (06) : 385 - 398
  • [8] Clinical studies on submicroscopic subtelomeric rearrangements: a checklist
    de Vries, BBA
    White, SM
    Knight, SJL
    Regan, R
    Homfray, T
    Young, ID
    Super, M
    McKeown, C
    Splitt, M
    Quarrell, OWJ
    Trainer, AH
    Niermeijer, MF
    Malcolm, S
    Flint, J
    Hurst, JA
    Winter, RM
    [J]. JOURNAL OF MEDICAL GENETICS, 2001, 38 (03) : 145 - 150
  • [9] DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
    Fiegler, H
    Carr, P
    Douglas, EJ
    Burford, DC
    Hunt, S
    Smith, J
    Vetrie, D
    Gorman, P
    Tomlinson, IPM
    Carter, NP
    [J]. GENES CHROMOSOMES & CANCER, 2003, 36 (04) : 361 - 374
  • [10] The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
    Flint, J
    Knight, S
    [J]. CURRENT OPINION IN GENETICS & DEVELOPMENT, 2003, 13 (03) : 310 - 316
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