Mutation screening of five candidate genes in 10 families affected with Usher syndrome type 1A.

被引:0
|
作者
Gerber, S
Chandrasekharappa, S
Sumegi, J
Ellegde, S
Bonneau, D
Rozet, JM
Perrault, I
Ducroq, D
Munnich, A
Kaplan, J
机构
[1] Hop Necker Enfants Malad, INSERM U393, Paris, France
[2] NIDDK, Metab Dis Branch, Bethesda, MD USA
[3] Univ Nebraska, Dept Pathol & Microbiol, Omaha, NE 68182 USA
[4] Baylor Coll Med, Howard Hughes Med Inst, Houston, TX 77030 USA
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
1017B392
引用
收藏
页码:S195 / S195
页数:1
相关论文
共 50 条
  • [1] Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
    Weston, MD
    Kelley, PM
    Overbeck, LD
    Wagenaar, M
    Orten, DJ
    Hasson, T
    Chen, ZY
    Corey, D
    Mooseker, M
    Sumegi, J
    Cremers, C
    Moller, C
    Jacobson, SG
    Gorin, MB
    Kimberling, WJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 59 (05) : 1074 - 1083
  • [2] Mutation Screening in Candidate Genes in Four Chinese Brachydactyly Families
    Dong, Sufang
    Wang, Yinghui
    Tao, Shengxiang
    Zheng, Fang
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2015, 45 (01): : 94 - 99
  • [3] Mutation screening of candidate genes in Rett syndrome.
    Xiang, F
    Buervenich, S
    Nicolao, P
    Bailey, MES
    Edstrom, L
    Anvret, M
    Zhang, Z
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A499 - A499
  • [4] Mutation screening of two candidate genes: Human peptide transporter and Human glypican 5 in families affected with bipolar disorder.
    Maheshwari, M
    Gershon, ES
    Christian, SL
    Gibbs, RA
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 499 - 499
  • [5] Mutation screening of candidate genes in congenital central hypoventilation syndrome.
    Matera, I
    Bachetti, T
    Cinti, R
    Santamaria, G
    Mosca, F
    Morandi, F
    Motta, M
    Ottonello, G
    Piumelli, R
    Schober, JG
    Ghizzi, C
    Villa, MP
    Ravazzolo, R
    Ceccherini, I
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 506 - 506
  • [6] Mutation screening of myosin VIIa promoter elements in Usher syndrome type 1B patients.
    Orten, DJ
    Weston, MD
    Kelley, PM
    Kimberling, WJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A179 - A179
  • [7] GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-1 IN FRENCH FAMILIES
    LARGETPIET, D
    GERBER, S
    BONNEAU, D
    ROZET, JM
    MARC, S
    GHAZI, I
    DUFIER, JL
    DAVID, A
    BITOUN, P
    WEISSENBACH, J
    MUNNICH, A
    KAPLAN, J
    GENOMICS, 1994, 21 (01) : 138 - 143
  • [8] Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I
    Jaijo, Teresa
    Oshima, Aki
    Aller, Elena
    Carney, Carol
    Usami, Shin-ichi
    Millan, Jose M.
    Kimberling, William J.
    MOLECULAR VISION, 2012, 18 (176-77): : 1719 - 1726
  • [9] Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1
    Nakanishi, Hiroshi
    Ohtsubo, Masafumi
    Iwasaki, Satoshi
    Hotta, Yoshihiro
    Takizawa, Yoshinori
    Hosono, Katsuhiro
    Mizuta, Kunihiro
    Mineta, Hiroyuki
    Minoshima, Shinsei
    JOURNAL OF HUMAN GENETICS, 2010, 55 (12) : 796 - 800
  • [10] Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1
    Hiroshi Nakanishi
    Masafumi Ohtsubo
    Satoshi Iwasaki
    Yoshihiro Hotta
    Yoshinori Takizawa
    Katsuhiro Hosono
    Kunihiro Mizuta
    Hiroyuki Mineta
    Shinsei Minoshima
    Journal of Human Genetics, 2010, 55 : 796 - 800