Targeted whole exome sequencing reveals hotspot for pathogenic genetic variations in RB1 gene in retinoblastoma

被引：0
|
作者：
Tibrewal, ShailIja [1 ]
Ratna, Ria [2 ]
Varshney, Akhil [2 ,3 ]
Das, Sima [4 ]
机构：
[1] Dr Shroffs Char Eye Hosp Delhi, Dept Pediat Ophthalmol Strabismus & Neuroophthalm, Delhi, India
[2] Dr Shroffs Char Eye Hosp Delhi, Dept Ocular Genet, Ctr Unknown Rare Eye ENT Disorders, Delhi, India
[3] Dr Shroffs Char Eye Hosp Delhi, Eicher Shroff Ctr Stem Cell Res, Delhi, India
[4] Dr Shroffs Char Eye Hosp Delhi, Dept Oculoplasty & Ocular Oncol Serv, Delhi, India
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2024年 / 65卷 / 07期
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：
4246
引用
收藏
页数：3
相关论文
共 50 条
  • [21] RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling
    Parma, Diana
    Ferrer, Marcela
    Luce, Leonela
    Giliberto, Florencia
    Szijan, Irene
    PLOS ONE, 2017, 12 (12):
  • [22] 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
  • [23] 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
  • [24] Retinoblastoma beyond RB1: recent advances in genetic biomarkers
    Pentimalli, Francesca
    Indovina, Paola
    Giordano, Antonio
    EXPERT REVIEW OF OPHTHALMOLOGY, 2010, 5 (06) : 717 - 721
  • [25] Loss of heterozygosity of the retinoblastoma (RB1) gene in lipomas from a retinoblastoma patient
    Rieder, H
    Lohmann, D
    Poensgen, B
    Fritz, B
    Aslan, M
    Drohm, D
    Angersbach, FJS
    Rehder, H
    JOURNAL OF THE NATIONAL CANCER INSTITUTE, 1998, 90 (04) : 324 - 326
  • [26] Importance of RB1 promoter hypermethylation in retinoblastoma genetic screening
    Hashim, Sugera
    Price, K. S.
    Price, E. A.
    Pritchard, K.
    Onadim, Z.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 : S90 - S90
  • [27] The Implications of RB1 Genetic Testing for the Patients with Unilateral Retinoblastoma
    Hattori, Hiroyoshi
    Morikawa, Maki
    Kubota, Toshinobu
    Akita, Nobuhiro
    Sekimizu, Masahiro
    Ichikawa, Mizuho
    Maeda, Naoko
    Usiama, Mineko
    Yoshida, Teruhiko
    Sugano, Kokichi
    Horibe, Keizo
    PEDIATRIC BLOOD & CANCER, 2017, 64 : S15 - S15
  • [28] Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia
    Shakya, Sunil
    Kumari, Renu
    Suroliya, Varun
    Tyagi, Nishu
    Joshi, Aditi
    Garg, Ajay
    Singh, Inder
    Puthanveedu, Divya Kalikavil
    Cherian, Ajith
    Mukerji, Mitali
    Srivastava, Achal K.
    Faruq, Mohammed
    CLINICAL GENETICS, 2019, 96 (06) : 566 - 574
  • [29] Detection of mutations in RB1 gene in different forms of retinoblastoma
    Nemtsova, M
    Babenko, O
    Blagosklonova, O
    Saakyan, S
    Kozlova, V
    Brovkina, A
    Zaletayev, D
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 162 - 162
  • [30] RB1 gene mutations in retinoblastoma and its clinical correlation
    Ali, Mohammad Javed
    Parsam, Vidya Latha
    Honavar, Santosh G.
    Kannabiran, Chitra
    Vemuganti, Geeta K.
    Reddy, Vijay Anand P.
    SAUDI JOURNAL OF OPHTHALMOLOGY, 2010, 24 (04) : 119 - 123
12345