Mutational analysis of FGFR3 in thanatophoric dysplasia, type I.

被引：0
|
作者：
Bellus, GA
Baker, A
Spector, EB
Hunter, AGW
Hecht, J
Lewanda, AF
Szabo, J
Francomano, CA
机构：
[1] Univ Colorado, Hlth Sci Ctr, Denver, CO USA
[2] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada
[3] Univ Texas, Houston, TX USA
[4] Ctr Med Genet, Rockville, MD USA
[5] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1997年 / 61卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1908
引用
收藏
页码：A326 / A326
页数：1
相关论文
共 50 条
  • [41] Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap
    Barton, Christopher
    Sweeney, Elizabeth
    Roberts, Devender
    McPartland, Jo
    CLINICAL DYSMORPHOLOGY, 2010, 19 (03) : 146 - 149
  • [42] Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations
    Brodie, SG
    Kitoh, H
    Lachman, RS
    Nolasco, LM
    Mekikian, PB
    Wilcox, WR
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 84 (05): : 476 - 480
  • [43] Mutational Activation of FGFR3 is Not Involved in the Development of Prostate Cancer
    Koufou, Stella
    Lunz, Jens-Claudio
    Borchardt, Albert
    Keck, Bastian
    Kneitz, Burkhard
    Gaisa, Nadine T.
    Hafner, Christian
    Giedl, Christian
    Rau, Tilman T.
    Rogler, Anja
    Wieland, Wolf F.
    Hartmann, Arndt
    Stoehr, Robert
    PATHOBIOLOGY, 2010, 77 (05) : 249 - 252
  • [44] An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)
    Camera, G
    Baldi, M
    Baffico, M
    Pozzolo, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 71 (01): : 122 - 123
  • [45] Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I
    Wu, Q. C.
    Wang, W. B.
    Sun, L.
    Xu, Y. S.
    Xie, X. J.
    Ma, X. M.
    Su, Z. Y.
    CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2020, 47 (01): : 7 - 11
  • [46] Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
    Yamashita, Akihiro
    Morioka, Miho
    Kishi, Hiromi
    Kimura, Takeshi
    Yahara, Yasuhito
    Okada, Minoru
    Fujita, Kaori
    Sawai, Hideaki
    Ikegawa, Shiro
    Tsumaki, Noriyuki
    NATURE, 2014, 513 (7519) : 507 - +
  • [47] Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
    Akihiro Yamashita
    Miho Morioka
    Hiromi Kishi
    Takeshi Kimura
    Yasuhito Yahara
    Minoru Okada
    Kaori Fujita
    Hideaki Sawai
    Shiro Ikegawa
    Noriyuki Tsumaki
    Nature, 2014, 513 : 507 - 511
  • [48] Mutational activation of FGFR3: no involvement in the development of renal cell carcinoma
    Stoehr, C. G.
    Stoehr, R.
    Hartmann, A.
    Hofstaedter, F.
    Junker, K.
    Blaszyk, H.
    Wieland, W. F.
    Otto, W.
    Denzinger, S.
    Walter, B.
    JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY, 2012, 138 (02) : 359 - 361
  • [49] Mutational activation of FGFR3: no involvement in the development of renal cell carcinoma
    C. G. Stoehr
    R. Stoehr
    A. Hartmann
    F. Hofstaedter
    K. Junker
    H. Blaszyk
    W. F. Wieland
    W. Otto
    S. Denzinger
    B. Walter
    Journal of Cancer Research and Clinical Oncology, 2012, 138 : 359 - 361
  • [50] Stippling: a first trimester marker for thanatophoric dysplasia type I
    Beuke, Lauren
    Koduri, Priyadarshini
    Martinez, Francis
    Weiner, Stuart
    PRENATAL DIAGNOSIS, 2010, 30 (12-13) : 1220 - 1221
12345