Genetic counselling for inherited Retinal Disease: an evolving service

被引：0
|
作者：
Turner, J. [1 ]
O'Byrne, J. J. [1 ]
Zhu, J. [1 ]
Dockery, A. [2 ]
Farrar, G. J. [2 ]
Kenna, P. F. [3 ]
Silvetri, G. [4 ]
Stephenson, K. [3 ]
Keegan, D. [1 ]
机构：
[1] Mater Misericordiae Univ Hosp, Dublin, Ireland
[2] Trinity Coll Dublin, Dublin, Ireland
[3] Royal Victoria Eye & Ear Hosp, Dublin, Ireland
[4] Royal Victoria Hosp, Belfast, Antrim, North Ireland
来源：
IRISH JOURNAL OF MEDICAL SCIENCE | 2021年 / 190卷 / SUPPL 2期
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P46
引用
收藏
页码：75 / 76
页数：2
相关论文
共 50 条
  • [31] Genetic testing and diagnosis of inherited retinal diseases
    Lam, Byron L.
    Leroy, Bart P.
    Black, Graeme
    Ong, Tuyen
    Yoon, Dan
    Trzupek, Karmen
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [32] Genetic analysis on inherited retinal diseases in Greece
    Cancellieri, Francesca
    Nikopoulos, Konstantinos
    Quinodoz, Mathieu
    Ansar, Muhammad
    Kozeis, Nikolaos
    Tsenikoglou, Christina
    Triantafylla, Magda
    Giannopoulos, Theodoros
    Kozei, Athina
    Rivolta, Carlo
    Panagiotou, Evangelia S.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [33] Genetic testing and diagnosis of inherited retinal diseases
    Byron L. Lam
    Bart P. Leroy
    Graeme Black
    Tuyen Ong
    Dan Yoon
    Karmen Trzupek
    Orphanet Journal of Rare Diseases, 16
  • [34] GENETIC AND FUNCTIONAL COMPLEXITY OF INHERITED RETINAL DEGENERATION
    DAIGER, SP
    SULLIVAN, LA
    RODRIGUEZ, JA
    BEHAVIORAL AND BRAIN SCIENCES, 1995, 18 (03) : 501 - 502
  • [35] 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
  • [36] Genetic Diagnostic Testing in Inherited Retinal Dystrophies
    Kohl, S.
    Biskup, S.
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2013, 230 (03) : 243 - 246
  • [37] 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)
  • [38] Updating the Genetic Landscape of Inherited Retinal Dystrophies
    Bohorquez, Belen Garcia
    Aller, Elena
    Munoz, Ana Rodriguez
    Jaijo, Teresa
    Garcia, Gema Garcia
    Millan, Jose M.
    FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9
  • [39] Genetic findings of inherited retinal diseases in France
    Zeitz, Christina
    Audo, Isabelle
    ACTA OPHTHALMOLOGICA, 2024, 102
  • [40] The genetic landscape of inherited retinal dystrophies in Arabs
    Lama Jaffal
    Hawraa Joumaa
    Jinane Noureldine
    Malak Banjak
    Mariam Ibrahim
    Zamzam Mrad
    Ali Salami
    Said El Shamieh
    BMC Medical Genomics, 16
12345