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
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
  • [31] Distinct growth plate abnormalities associated with mutations in the extracellular and intracellular domains of FGFR3 in thanatophoric dysplasia (TD).
    Amizuka, N
    Chen, MF
    Goodyer, C
    Ozawa, H
    Henderson, JE
    JOURNAL OF BONE AND MINERAL RESEARCH, 1999, 14 : S187 - S187
  • [32] The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas
    Kimura, T
    Suzuki, H
    Ohashi, T
    Asano, K
    Kiyota, H
    Eto, Y
    CANCER, 2001, 92 (10) : 2555 - 2561
  • [33] FGFR3 and FGFR4 mutational analyses in thyroid carcinoma
    Serra, S.
    Cheng, S.
    Ezzat, S.
    Asa, S. L.
    LABORATORY INVESTIGATION, 2008, 88 : 110A - 111A
  • [34] Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses
    Delezoide, AL
    LasselinBenoist, C
    LegeaiMallet, L
    Brice, P
    Senee, V
    Yayon, A
    Munnich, A
    Vekemans, M
    Bonaventure, J
    HUMAN MOLECULAR GENETICS, 1997, 6 (11) : 1899 - 1906
  • [35] FGFR3 and FGFR4 mutational analyses in thyroid carcinoma
    Serra, S.
    Cheng, S.
    Ezzat, S.
    Asa, S. L.
    MODERN PATHOLOGY, 2008, 21 : 110A - 111A
  • [36] Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
    Chen, CP
    Chern, SR
    Shih, JC
    Wang, WS
    Yeh, LF
    Chang, TY
    Tzen, CY
    PRENATAL DIAGNOSIS, 2001, 21 (02) : 89 - 95
  • [37] Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Hyland, VJ
    Robertson, SP
    Flanagan, S
    Savarirayan, R
    Roscioli, T
    Masel, J
    Hayes, M
    Glass, IA
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 120A (02) : 157 - 168
  • [38] Thanatophoric dysplasia type I: case report
    Kirimi, E.
    Bektas, S.
    Ceylan, A.
    Gulmehmet, F.
    ACTA PAEDIATRICA, 2008, 97 : 195 - 196
  • [39] FGFR3 Mutational Analysis in Urinary Tract Cytology Specimens with Abnormal UroVysion
    Gao, L.
    Darbro, B. W.
    Jensen, C. S.
    Bossler, A.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (06): : 762 - 762
  • [40] Nevoid acanthosis nigricans: two new cases with mutational analysis in FGFR2 and FGFR3
    March-Rodriguez, Alvaro
    Lobato-Berezo, Alejandro
    Pesque, David
    Pujol, Ramon M.
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2023, 62 (10) : E562 - E564