Last Posted: Mar 11, 2020
- [Clinical practice guidelines for retinitis pigmentosa].
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 295-299
- Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
JC Kapetanovic et al. Nature Medicine, February 24, 2020
- Gene editing prospects for treating inherited retinal diseases.
Benati Daniela et al. Journal of medical genetics 2019 Dec
- Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.
Diakatou Michalitsa et al. International journal of molecular sciences 2019 May 20(10)
- Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.
Salmaninejad Arash et al. Ophthalmic genetics 2019 Oct 40(5) 393-402
- A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon Dror et al. Human mutation 2019 Aug
- Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge.
Holtan Josephine Prener et al. Acta ophthalmologica 2019 Aug
- Genetic Screening of the Usher Syndrome in Cuba.
Santana Elayne E et al. Frontiers in genetics 2019 10501
- Genetic testing in patients with retinitis pigmentosa: features of unsolved cases.
Birtel Johannes et al. Clinical & experimental ophthalmology 2019 Apr
- The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar
- The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
Nanda A et al. American journal of ophthalmology 2019 Feb
- Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret Guillaume et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019 Jan 40(1) 121-129
- Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
Lee Jennifer et al. Ophthalmic genetics 2018 Nov 1-6
- Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova Marianna E et al. Ophthalmic genetics 2018 Oct 1-8
- Relative frequency of inherited retinal dystrophies in Brazil.
Motta Fabiana Louise et al. Scientific reports 2018 Oct 8(1) 15939
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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