Detection of mutations in RB1 gene in different forms of retinoblastoma

被引:0
|
作者
Nemtsova, M
Babenko, O
Blagosklonova, O
Saakyan, S
Kozlova, V
Brovkina, A
Zaletayev, D
机构
[1] Med Genet Res Ctr, Moscow 115478, Russia
[2] Moscow Inst Eye Dis, Moscow, Russia
[3] Natl Sci Oncol Ctr, Moscow, Russia
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P4245
引用
收藏
页码:162 / 162
页数:1
相关论文
共 50 条
  • [41] UNCOMMON RB1 SOMATIC MUTATIONS IN A UNILATERAL RETINOBLASTOMA PATIENT
    Ottaviani, Daniela
    Alonso, Cristina
    Szijan, Irene
    MEDICINA-BUENOS AIRES, 2015, 75 (03) : 137 - 141
  • [42] Spectrum of RB1 mutations identified in 403 retinoblastoma patients
    Price, Elizabeth A.
    Price, Kelly
    Kolkiewicz, Kelly
    Hack, Simon
    Reddy, M. Ashwin
    Hungerford, John L.
    Kingston, Judith E.
    Onadim, Zerrin
    JOURNAL OF MEDICAL GENETICS, 2014, 51 (03) : 208 - +
  • [43] Which retinoblastoma patients should be screened for RB1 mutations?
    Cowell, JK
    Gallie, BL
    EUROPEAN JOURNAL OF CANCER, 1998, 34 (12) : 1825 - 1826
  • [44] RB1 gene inactivation by chromothripsis in human retinoblastoma
    McEvoy, Justina
    Nagahawatte, Panduka
    Finkelstein, David
    Richards-Yutz, Jennifer
    Valentine, Marcus
    Ma, Jing
    Mullighan, Charles
    Song, Guangchun
    Chen, Xiang
    Wilson, Matthew
    Brennan, Rachel
    Pounds, Stanley
    Becksfort, Jared
    Huether, Robert
    Lu, Charles
    Fulton, Robert S.
    Fulton, Lucinda L.
    Hong, Xin
    Dooling, David J.
    Ochoa, Kerri
    Mardis, Elaine R.
    Wilson, Richard K.
    Easton, John
    Zhang, Jinghui
    Downing, James R.
    Ganguly, Arupa
    Dyer, Michael A.
    ONCOTARGET, 2014, 5 (02) : 438 - 450
  • [45] Five novel RB1 gene mutations and genotype–phenotype correlations in Chinese children with retinoblastoma
    Luting Li
    Haibo Li
    Jing Zhang
    Hairun Gan
    Ruihong Liu
    Xinyan Hu
    Pengfei Pang
    Bing Li
    International Ophthalmology, 2022, 42 : 3421 - 3430
  • [46] Patterns of missplicling caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
    Zhang, Katherine
    Nowak, Inga
    Rushlow, Diane
    Gallie, Brenda L.
    Lohmann, Dietmar R.
    HUMAN MUTATION, 2008, 29 (04) : 475 - 484
  • [47] Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations
    Katia Sampieri
    Theodora Hadjistilianou
    Francesca Mari
    Caterina Speciale
    Maria Antonietta Mencarelli
    Francesco Cetta
    Siranoush Manoukian
    Bernard Peissel
    Daniela Giachino
    Barbara Pasini
    Antonio Acquaviva
    Aldo Caporossi
    Renato Frezzotti
    Alessandra Renieri
    Mirella Bruttini
    Journal of Human Genetics, 2006, 51 : 209 - 216
  • [48] Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations
    Sampieri, K
    Hadjistilianou, T
    Mari, F
    Speciale, C
    Mencarelli, MA
    Cetta, F
    Manoukian, S
    Peissel, B
    Giachino, D
    Pasini, B
    Acquaviva, A
    Caporossi, A
    Frezzotti, R
    Renieri, A
    Bruttini, M
    JOURNAL OF HUMAN GENETICS, 2006, 51 (03) : 209 - 216
  • [49] Spectrum of RB1 gene mutations and loss of heterozygosity in Mexican patients with retinoblastoma:: Identification of six novel mutations
    Macias, M.
    Dean, M.
    Atkinson, A.
    Jimenez-Morales, S.
    Garcia-Vazquez, F. J.
    Saldana-Alvarez, Y.
    Ramirez-Bello, J.
    Chavez, M.
    Orozco, L.
    CANCER BIOMARKERS, 2008, 4 (02) : 93 - 99
  • [50] Molecular Diagnosis of Mutations in RB1 Gene in Retinoblastoma Patients and Their Relatives - Implications for Genetic Counseling
    Pereira Sena, P.
    Ashton-Prolla, P.
    Bonvicino, C. R.
    Vargas, F. R.
    EUROPEAN JOURNAL OF CANCER, 2012, 48 : S280 - S280