Leber congenital amaurosis (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Leber congenital amaurosis" in English language version.

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14doi.org

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13nih.gov

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9semanticscholar.org

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1whonamedit.com

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1psu.edu

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1fda.gov

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1youtube.com

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1ghostarchive.org

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aapos.org

"Leber Congenital Amaurosis". American Association for Pediatric Ophthalmology and Strabismus. April 2023. Retrieved 1 May 2023.

doi.org

Stone EM (December 2007). "Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture". American Journal of Ophthalmology. 144 (6): 791–811. doi:10.1016/j.ajo.2007.08.022. PMID 17964524.
Leber T (1869). "Über Retinitis pigmentosa und angeborene Amaurose". Archiv für Ophthalmologie (in German). 15 (3): 1–25. doi:10.1007/BF02721213. S2CID 543893.
Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, et al. (May 2008). "Safety and efficacy of gene transfer for Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2240–8. doi:10.1056/NEJMoa0802315. PMC 2829748. PMID 18441370.
Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, et al. (March 2010). "Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration". Molecular Therapy. 18 (3): 643–50. doi:10.1038/mt.2009.277. PMC 2839440. PMID 19953081.
Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, et al. (August 2009). "Vision 1 year after gene therapy for Leber's congenital amaurosis". The New England Journal of Medicine. 361 (7): 725–7. doi:10.1056/NEJMc0903652. PMC 2847775. PMID 19675341.
Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, et al. (May 2008). "Effect of gene therapy on visual function in Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2231–9. CiteSeerX 10.1.1.574.4003. doi:10.1056/NEJMoa0802268. PMID 18441371.
Schmitt, Ohns & DeVries 2023, "Introduction". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Schmitt, Ohns & DeVries 2023, "Diagnosing LCA". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Schmitt, Ohns & DeVries 2023, "Etiology of LCA". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Kondkar & Abu-Amero 2019, "Genetic basis of LCA". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Kondkar & Abu-Amero 2019, "Table 1. Overview of causal genes implicated in Leber congential amaurosis". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Kondkar & Abu-Amero 2019, "Table 2. Commonly affected genes in LCA and their associated phenotypes.". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Schmitt, Ohns & DeVries 2023, "Treatment of LCA". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Kondkar & Abu-Amero 2019, "Epidemiological, historical and clinical perspective of LCA". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.

fda.gov

"Approved Products - LUXTURNA". FDA. 2019-04-05.

ghostarchive.org

"4 yr old Gavin using his white cane to navigate down a curb independently". YouTube. Archived from the original on 2021-12-21.

nih.gov

pubmed.ncbi.nlm.nih.gov

Stone EM (December 2007). "Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture". American Journal of Ophthalmology. 144 (6): 791–811. doi:10.1016/j.ajo.2007.08.022. PMID 17964524.
Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, et al. (May 2008). "Safety and efficacy of gene transfer for Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2240–8. doi:10.1056/NEJMoa0802315. PMC 2829748. PMID 18441370.
Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, et al. (March 2010). "Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration". Molecular Therapy. 18 (3): 643–50. doi:10.1038/mt.2009.277. PMC 2839440. PMID 19953081.
Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, et al. (August 2009). "Vision 1 year after gene therapy for Leber's congenital amaurosis". The New England Journal of Medicine. 361 (7): 725–7. doi:10.1056/NEJMc0903652. PMC 2847775. PMID 19675341.
Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, et al. (May 2008). "Effect of gene therapy on visual function in Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2231–9. CiteSeerX 10.1.1.574.4003. doi:10.1056/NEJMoa0802268. PMID 18441371.
Kondkar & Abu-Amero 2019, "Genetic basis of LCA". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Kondkar & Abu-Amero 2019, "Table 1. Overview of causal genes implicated in Leber congential amaurosis". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Kondkar & Abu-Amero 2019, "Table 2. Commonly affected genes in LCA and their associated phenotypes.". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Kondkar & Abu-Amero 2019, "Epidemiological, historical and clinical perspective of LCA". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.

ncbi.nlm.nih.gov

Maguire AM, Simonelli F, Pierce EA, Pugh EN, Mingozzi F, Bennicelli J, et al. (May 2008). "Safety and efficacy of gene transfer for Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2240–8. doi:10.1056/NEJMoa0802315. PMC 2829748. PMID 18441370.
Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, et al. (March 2010). "Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration". Molecular Therapy. 18 (3): 643–50. doi:10.1038/mt.2009.277. PMC 2839440. PMID 19953081.
Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, et al. (August 2009). "Vision 1 year after gene therapy for Leber's congenital amaurosis". The New England Journal of Medicine. 361 (7): 725–7. doi:10.1056/NEJMc0903652. PMC 2847775. PMID 19675341.

ghr.nlm.nih.gov

"Leber congenital amaurosis". Genetics Home Reference. August 2010. Retrieved 14 May 2017.

psu.edu

citeseerx.ist.psu.edu

Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, et al. (May 2008). "Effect of gene therapy on visual function in Leber's congenital amaurosis". The New England Journal of Medicine. 358 (21): 2231–9. CiteSeerX 10.1.1.574.4003. doi:10.1056/NEJMoa0802268. PMID 18441371.

sciencedaily.com

"Participants of pioneering CRISPR gene editing trial see vision improve". ScienceDaily. Retrieved 2024-05-12.

semanticscholar.org

api.semanticscholar.org

Leber T (1869). "Über Retinitis pigmentosa und angeborene Amaurose". Archiv für Ophthalmologie (in German). 15 (3): 1–25. doi:10.1007/BF02721213. S2CID 543893.
Schmitt, Ohns & DeVries 2023, "Introduction". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Schmitt, Ohns & DeVries 2023, "Diagnosing LCA". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Schmitt, Ohns & DeVries 2023, "Etiology of LCA". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Kondkar & Abu-Amero 2019, "Genetic basis of LCA". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Kondkar & Abu-Amero 2019, "Table 1. Overview of causal genes implicated in Leber congential amaurosis". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Kondkar & Abu-Amero 2019, "Table 2. Commonly affected genes in LCA and their associated phenotypes.". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.
Schmitt, Ohns & DeVries 2023, "Treatment of LCA". Schmitt TM, Ohns MJ, DeVries JJ (May 2023). "Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children". Journal for Nurse Practitioners. 19 (5): 104560. doi:10.1016/j.nurpra.2023.104560. S2CID 258096914.
Kondkar & Abu-Amero 2019, "Epidemiological, historical and clinical perspective of LCA". Kondkar AA, Abu-Amero KK (December 2019). "Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine". Exp Eye Res. 189: 107834. doi:10.1016/j.exer.2019.107834. PMID 31639339. S2CID 204849679.

whonamedit.com

Leber's congenital amaurosis at Who Named It?

youtube.com

"4 yr old Gavin using his white cane to navigate down a curb independently". YouTube. Archived from the original on 2021-12-21.