CLINICAL AND GENETIC EVALUATION IN A COHORT OF PEDIATRIC PATIENTS WITH INHERITED RETINAL DYSTROPHIES

被引：0
|
作者：
Brunetti-Pierri, Raffaella [1 ]
Filippelli, Mariaelena [1 ]
Testa, Francesco [1 ]
Di Lorio, Valentina [1 ]
Di Fruscio, Giuseppina [2 ]
Nigro, Vincenzo [2 ]
Pizzo, Mariateresa [3 ]
Brunetti-Pierri, Nicola [4 ]
Banfi, Sandro [2 ,3 ]
Simonelli, Francesca [1 ]
机构：
[1] Naples Second Univ, Eye Clin, Multidisciplinary Dept Med Surg & Dent Sci, Naples, Italy
[2] Naples Second Univ, Dept Biochem Biophys & Gen Pathol, Med Genet, Naples, Italy
[3] Telethon Inst Genet & Med, Naples, Italy
[4] Univ Naples Federico II, Dept Translat Med, Naples, Italy
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2017年 / 58卷 / 08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：
3225
引用
收藏
页数：3
相关论文
共 50 条
  • [1] Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies
    Di Iorio, Valentina
    Karali, Marianthi
    Brunetti-Pierri, Raffaella
    Filippelli, Mariaelena
    Di Fruscio, Giuseppina
    Pizzo, Mariateresa
    Mutarelli, Margherita
    Nigro, Vincenzo
    Testa, Francesco
    Banfi, Sandro
    Simonelli, Francesca
    GENES, 2017, 8 (10):
  • [2] Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting
    Kolawole, Olubayo U.
    Huang, Albert
    Gregory-Evans, Cheryl Y.
    Shunmugam, Maheshver
    Weaver, Travers
    Gregory-Evans, Kevin
    CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE, 2024, 59 (05): : e575 - e581
  • [3] Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies
    Coco-Martin, Rosa M.
    Diego-Alonso, Miguel
    Andres Orduz-Montana, W.
    Rosa Sanabria, M.
    Sanchez-Tocin, Hortensia
    CLINICAL OPHTHALMOLOGY, 2021, 15 : 1075 - 1084
  • [4] Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium
    Heutinck, Pam A. T.
    van den Born, L. Ingeborgh
    Vermeer, Maikel
    Gonzales, Adriana I. Iglesias
    Hoyng, Carel B.
    Pott, Jan Willem R.
    Kroes, Hester Y.
    van Schooneveld, Mary J.
    Boon, Camiel J. F.
    van Genderen, Maria M.
    Plomp, Astrid S.
    de Jong-Hesse, Yvonne
    van Egmond-Ebbeling, Michelle B.
    Hoefsloot, Lies H.
    Bergen, Arthur A.
    Klaver, Caroline C. W.
    Meester-Smoor, Magda A.
    Thiadens, Alberta A. H. J.
    Verhoeven, Virginie J. M.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (10)
  • [5] Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing
    Barberan-Martinez, Pilar
    Garcia-Bohorquez, Belen
    Navarro-Moreno, Cinta
    Jaijo, Teresa
    Aller, Elena
    Garcia-Garcia, Gema
    Millan, Jose M.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 119 - 119
  • [6] Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies
    Lee, Kristy
    Garg, Seema
    GENETICS IN MEDICINE, 2015, 17 (04) : 245 - 252
  • [7] Novel gene based therapies for inherited retinal dystrophies in pediatric patients
    Stieger, K.
    ACTA OPHTHALMOLOGICA, 2017, 95
  • [8] Progress in the genetic diagnosis of inherited retinal dystrophies
    Rodriguez-Munoz, A.
    Fuster, C.
    Aller, E.
    Hernan, I.
    Riveiro-Alvarez, R.
    Avila, A.
    Carballo, M.
    Ayuso, C.
    Barranco, H.
    Gallego, R.
    Millan, J. M.
    Garcia-Garcia, G.
    Jaijo, T.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 848 - 849
  • [9] Genetic Diagnostic Testing in Inherited Retinal Dystrophies
    Kohl, S.
    Biskup, S.
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2013, 230 (03) : 243 - 246
  • [10] The genetic landscape of inherited retinal dystrophies in Arabs
    Jaffal, Lama
    Joumaa, Hawraa
    Noureldine, Jinane
    Banjak, Malak
    Ibrahim, Mariam
    Mrad, Zamzam
    Salami, Ali
    Shamieh, Said El
    BMC MEDICAL GENOMICS, 2023, 16 (01)
12345