Significant reduction in time to clinical diagnosis and genetic testing for inherited retinal disease patients in the past five years

被引:0
|
作者
Wagner, Naomi E. [1 ]
Borooah, Shyamanga [1 ]
机构
[1] Univ Calif San Diego, Shiley Eye Inst, La Jolla, CA USA
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
5300
引用
收藏
页数:2
相关论文
共 50 条
  • [31] An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention
    Pradhan, Monika
    Hayes, Ian
    Vincent, Andrea
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2009, 37 (07): : 703 - 711
  • [32] 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):
  • [33] 'Posthumous' diagnosis of Wilson disease after five years. Genetic testing from an electric-shaver
    Szalay, F
    Woller, J
    Polli, C
    Ferenci, P
    Pusztai, L
    Firneisz, G
    JOURNAL OF HEPATOLOGY, 2001, 34 : 218 - 218
  • [34] Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease
    Priglinger, Claudia S.
    Gerhardt, Maximilian J.
    Priglinger, Siegfried G.
    Schaumberger, Markus
    Neuhann, Teresa M.
    Bolz, Hanno J.
    Mehraein, Yasmin
    Rudolph, Guenther
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (22)
  • [35] A family with gallstone disease: defining inherited risk in the era of clinical genetic testing
    Weber, Susanne N.
    Lambert, Irina
    Lammert, Frank
    Krawczyk, Marcin
    INTERNAL AND EMERGENCY MEDICINE, 2025, : 509 - 514
  • [36] Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease
    Martin McKibbin
    Mushtaq Ahmed
    Matthew J Allsop
    Louise Downey
    Richard Gale
    Hilary Louise Grant
    Barbara Potrata
    Thomas A Willis
    Jenny Hewison
    European Journal of Human Genetics, 2014, 22 : 1058 - 1062
  • [37] Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease
    McKibbin, Martin
    Ahmed, Mushtaq
    Allsop, Matthew J.
    Downey, Louise
    Gale, Richard
    Grant, Hilary Louise
    Potrata, Barbara
    Willis, Thomas A.
    Hewison, Jenny
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (09) : 1058 - 1062
  • [38] PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES
    Khan, Arif O.
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2020, 40 (09): : 1829 - 1837
  • [39] Molecular Genetic Diagnosis of Omani Patients With Inherited Cystic Kidney Disease
    Al Alawi, Intisar
    Al Salmi, Issa
    Al Rahbi, Fatma
    Al Riyami, Mohamed
    Al Kalbani, Naifain
    Al Ghaithi, Badria
    Al Mawali, Adhra
    Sayer, John A.
    KIDNEY INTERNATIONAL REPORTS, 2019, 4 (12): : 1751 - 1759
  • [40] Diagnosis of inherited retinal dystrophies. Relevance of molecular genetic testing from the patient's perspective
    Kellner, Ulrich
    Jansen, Sandra
    Bucher, Franziska
    Stingl, Katarina
    OPHTHALMOLOGIE, 2022, 119 (08): : 820 - 826