Congenital stationary night blindness (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Congenital stationary night blindness" in English language version.

refsWebsite

Global rank English rank

48nih.gov

4^th place

37doi.org

2^nd place

13semanticscholar.org

11^th place

8^th place

7harvard.edu

18^th place

17^th place

7worldcat.org

5^th place

2ucdavis.edu

1,873^rd place

1,347^th place

doi.org

Bai, Dong'e; Guo, Ruru; Huang, Dandan; Ji, Jian; Liu, Wei (2024-03-15). "Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness". Heliyon. 10 (5): e27039. Bibcode:2024Heliy..1027039B. doi:10.1016/j.heliyon.2024.e27039. ISSN 2405-8440. PMC 10907788. PMID 38434377.
Zeitz, Christina; Robson, Anthony G.; Audo, Isabelle (2015-03-01). "Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms". Progress in Retinal and Eye Research. 45: 58–110. doi:10.1016/j.preteyeres.2014.09.001. ISSN 1350-9462. PMID 25307992.
Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, et al. (2013-10-22). "Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse". PLOS ONE. 8 (10): e78280. Bibcode:2013PLoSO...878280B. doi:10.1371/journal.pone.0078280. PMC 3805535. PMID 24167615.
Hack YL, Crabtree EE, Avila F, Sutton RB, Grahn R, Oh A, et al. (March 2021). "Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse". Equine Veterinary Journal. 53 (2): 316–323. doi:10.1111/evj.13318. PMID 32654228. S2CID 220500585.
Das RG, Becker D, Jagannathan V, Goldstein O, Santana E, Carlin K, et al. (October 2019). "Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness". Scientific Reports. 9 (1): 14166. Bibcode:2019NatSR...914166D. doi:10.1038/s41598-019-50573-7. PMC 6775105. PMID 31578364.
Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, et al. (April 1998). "Evidence for genetic heterogeneity in X-linked congenital stationary night blindness". American Journal of Human Genetics. 62 (4): 865–875. doi:10.1086/301781. PMC 1377021. PMID 9529339.
Zeitz C, Robson AG, Audo I (March 2015). "Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms". Progress in Retinal and Eye Research. 45: 58–110. doi:10.1016/j.preteyeres.2014.09.001. PMID 25307992. S2CID 45696921.
Euler T, Haverkamp S, Schubert T, Baden T (August 2014). "Retinal bipolar cells: elementary building blocks of vision". Nature Reviews. Neuroscience. 15 (8): 507–519. doi:10.1038/nrn3783. PMID 25158357. S2CID 16309488.
Dunn FA, Wong RO (November 2014). "Wiring patterns in the mouse retina: collecting evidence across the connectome, physiology and light microscopy". The Journal of Physiology. 592 (22): 4809–4823. doi:10.1113/jphysiol.2014.277228. PMC 4259528. PMID 25172948.
Audo I, Robson AG, Holder GE, Moore AT (2008). "The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction". Survey of Ophthalmology. 53 (1): 16–40. doi:10.1016/j.survophthal.2007.10.010. PMID 18191655.
Garriga P, Manyosa J (September 2002). "The eye photoreceptor protein rhodopsin. Structural implications for retinal disease". FEBS Letters. 528 (1–3): 17–22. doi:10.1016/s0014-5793(02)03241-6. PMID 12297272. S2CID 41860711.
Rao VR, Cohen GB, Oprian DD (February 1994). "Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness". Nature. 367 (6464): 639–42. Bibcode:1994Natur.367..639R. doi:10.1038/367639a0. PMID 8107847. S2CID 4311079.
Dryja TP, Berson EL, Rao VR, Oprian DD (July 1993). "Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness". Nature Genetics. 4 (3): 280–3. doi:10.1038/ng0793-280. PMID 8358437. S2CID 7682929.
Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M (January 1995). "Dark-light: model for nightblindness from the human rhodopsin Gly-90→Asp mutation". Proceedings of the National Academy of Sciences of the United States of America. 92 (3): 880–4. Bibcode:1995PNAS...92..880S. doi:10.1073/pnas.92.3.880. PMC 42724. PMID 7846071.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, et al. (November 2000). "Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness". Nature Genetics. 26 (3): 319–323. doi:10.1038/81619. PMID 11062471. S2CID 10223880.
Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, et al. (November 2000). "The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein". Nature Genetics. 26 (3): 324–327. doi:10.1038/81627. PMID 11062472. S2CID 42428370.
Gregg RG, Mukhopadhyay S, Candille SI, Ball SL, Pardue MT, McCall MA, Peachey NS (January 2003). "Identification of the gene and the mutation responsible for the mouse nob phenotype". Investigative Ophthalmology & Visual Science. 44 (1): 378–384. doi:10.1167/iovs.02-0501. PMID 12506099.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, et al. (February 2003). "Mutations in the CACNA1F and NYX genes in British CSNBX families". Human Mutation. 21 (2): 169. doi:10.1002/humu.9106. PMID 12552565. S2CID 13143864.
Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q (2006). "CSNB1 in Chinese families associated with novel mutations in NYX". Journal of Human Genetics. 51 (7): 634–640. doi:10.1007/s10038-006-0406-5. PMID 16670814.
Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, et al. (July 1998). "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness". Nature Genetics. 19 (3): 260–263. doi:10.1038/940. PMID 9662399. S2CID 34467174.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, et al. (July 1998). "Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness". Nature Genetics. 19 (3): 264–267. doi:10.1038/947. PMID 9662400. S2CID 42480901.
McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, et al. (February 2004). "The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution". The Journal of Neuroscience. 24 (7): 1707–1718. doi:10.1523/JNEUROSCI.4846-03.2004. PMC 6730460. PMID 14973233.
Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, et al. (October 2005). "Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina". Human Molecular Genetics. 14 (20): 3035–3046. doi:10.1093/hmg/ddi336. PMID 16155113.
Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, et al. (February 2001). "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants". Human Genetics. 108 (2): 91–97. doi:10.1007/s004390100461. PMID 11281458. S2CID 2844173.
Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, et al. (August 2002). "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina". European Journal of Human Genetics. 10 (8): 449–456. doi:10.1038/sj.ejhg.5200828. PMID 12111638.
Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y (July 2003). "Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family". Archives of Ophthalmology. 121 (7): 1028–1033. doi:10.1001/archopht.121.7.1028. PMID 12860808.
Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, et al. (November 2003). "Genotype-phenotype correlation in British families with X linked congenital stationary night blindness". The British Journal of Ophthalmology. 87 (11): 1413–1420. doi:10.1136/bjo.87.11.1413. PMC 1771890. PMID 14609846.
Hoda JC, Zaghetto F, Koschak A, Striessnig J (January 2005). "Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels". The Journal of Neuroscience. 25 (1): 252–259. doi:10.1523/JNEUROSCI.3054-04.2005. PMC 6725195. PMID 15634789.
Hoda JC, Zaghetto F, Singh A, Koschak A, Striessnig J (March 2006). "Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression". Journal of Neurochemistry. 96 (6): 1648–1658. doi:10.1111/j.1471-4159.2006.03678.x. PMID 16476079. S2CID 25987619.
Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, et al. (May 2005). "A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation". Proceedings of the National Academy of Sciences of the United States of America. 102 (21): 7553–7558. Bibcode:2005PNAS..102.7553H. doi:10.1073/pnas.0501907102. PMC 1140436. PMID 15897456.
Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, et al. (May 2003). "A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness". American Journal of Ophthalmology. 135 (5): 733–736. doi:10.1016/S0002-9394(02)02109-8. PMID 12719097.
Riggs, Lorrin A. (1954-07-01). "Electroretinography in Cases of Night Blindness*". American Journal of Ophthalmology. 38 (1): 70–78. doi:10.1016/0002-9394(54)90011-2. ISSN 0002-9394. PMID 13180620.
Michaelides, Michel; Holder, Graham E; Moore, Anthony T (2017), "Inherited retinal disorders", Taylor and Hoyt's Pediatric Ophthalmology and Strabismus, Elsevier, pp. 462–486.e2, doi:10.1016/b978-0-7020-6616-0.00046-3, ISBN 978-0-7020-6616-0, retrieved 2024-07-22
Henderson, Robert H. (2020-01-01). "Inherited retinal dystrophies". Paediatrics and Child Health. 30 (1): 19–27. doi:10.1016/j.paed.2019.10.004. ISSN 1751-7222.
Bai, Dong'e; Guo, Ruru; Huang, Dandan; Ji, Jian; Liu, Wei (2024-03-15). "Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness". Heliyon. 10 (5): e27039. Bibcode:2024Heliy..1027039B. doi:10.1016/j.heliyon.2024.e27039. ISSN 2405-8440. PMC 10907788. PMID 38434377.
Schubert, G.; Bornschein, H. (2010-03-18). "Beitrag zur Analyse des menschlichen Elektroretinogramms". Ophthalmologica. 123 (6): 396–413. doi:10.1159/000301211. ISSN 0030-3755. PMID 14957416.
Riggs, Lorrin A. (1954-07-01). "Electroretinography in Cases of Night Blindness*". American Journal of Ophthalmology. 38 (1): 70–78. doi:10.1016/0002-9394(54)90011-2. ISSN 0002-9394. PMID 13180620.

harvard.edu

ui.adsabs.harvard.edu

Bai, Dong'e; Guo, Ruru; Huang, Dandan; Ji, Jian; Liu, Wei (2024-03-15). "Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness". Heliyon. 10 (5): e27039. Bibcode:2024Heliy..1027039B. doi:10.1016/j.heliyon.2024.e27039. ISSN 2405-8440. PMC 10907788. PMID 38434377.
Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, et al. (2013-10-22). "Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse". PLOS ONE. 8 (10): e78280. Bibcode:2013PLoSO...878280B. doi:10.1371/journal.pone.0078280. PMC 3805535. PMID 24167615.
Das RG, Becker D, Jagannathan V, Goldstein O, Santana E, Carlin K, et al. (October 2019). "Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness". Scientific Reports. 9 (1): 14166. Bibcode:2019NatSR...914166D. doi:10.1038/s41598-019-50573-7. PMC 6775105. PMID 31578364.
Rao VR, Cohen GB, Oprian DD (February 1994). "Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness". Nature. 367 (6464): 639–42. Bibcode:1994Natur.367..639R. doi:10.1038/367639a0. PMID 8107847. S2CID 4311079.
Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M (January 1995). "Dark-light: model for nightblindness from the human rhodopsin Gly-90→Asp mutation". Proceedings of the National Academy of Sciences of the United States of America. 92 (3): 880–4. Bibcode:1995PNAS...92..880S. doi:10.1073/pnas.92.3.880. PMC 42724. PMID 7846071.
Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, et al. (May 2005). "A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation". Proceedings of the National Academy of Sciences of the United States of America. 102 (21): 7553–7558. Bibcode:2005PNAS..102.7553H. doi:10.1073/pnas.0501907102. PMC 1140436. PMID 15897456.
Bai, Dong'e; Guo, Ruru; Huang, Dandan; Ji, Jian; Liu, Wei (2024-03-15). "Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness". Heliyon. 10 (5): e27039. Bibcode:2024Heliy..1027039B. doi:10.1016/j.heliyon.2024.e27039. ISSN 2405-8440. PMC 10907788. PMID 38434377.

nih.gov

pubmed.ncbi.nlm.nih.gov

Bai, Dong'e; Guo, Ruru; Huang, Dandan; Ji, Jian; Liu, Wei (2024-03-15). "Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness". Heliyon. 10 (5): e27039. Bibcode:2024Heliy..1027039B. doi:10.1016/j.heliyon.2024.e27039. ISSN 2405-8440. PMC 10907788. PMID 38434377.
Zeitz, Christina; Robson, Anthony G.; Audo, Isabelle (2015-03-01). "Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms". Progress in Retinal and Eye Research. 45: 58–110. doi:10.1016/j.preteyeres.2014.09.001. ISSN 1350-9462. PMID 25307992.
Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, et al. (2013-10-22). "Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse". PLOS ONE. 8 (10): e78280. Bibcode:2013PLoSO...878280B. doi:10.1371/journal.pone.0078280. PMC 3805535. PMID 24167615.
Hack YL, Crabtree EE, Avila F, Sutton RB, Grahn R, Oh A, et al. (March 2021). "Whole-genome sequencing identifies missense mutation in GRM6 as the likely cause of congenital stationary night blindness in a Tennessee Walking Horse". Equine Veterinary Journal. 53 (2): 316–323. doi:10.1111/evj.13318. PMID 32654228. S2CID 220500585.
Das RG, Becker D, Jagannathan V, Goldstein O, Santana E, Carlin K, et al. (October 2019). "Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness". Scientific Reports. 9 (1): 14166. Bibcode:2019NatSR...914166D. doi:10.1038/s41598-019-50573-7. PMC 6775105. PMID 31578364.
Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, et al. (April 1998). "Evidence for genetic heterogeneity in X-linked congenital stationary night blindness". American Journal of Human Genetics. 62 (4): 865–875. doi:10.1086/301781. PMC 1377021. PMID 9529339.
Zeitz C, Robson AG, Audo I (March 2015). "Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms". Progress in Retinal and Eye Research. 45: 58–110. doi:10.1016/j.preteyeres.2014.09.001. PMID 25307992. S2CID 45696921.
Euler T, Haverkamp S, Schubert T, Baden T (August 2014). "Retinal bipolar cells: elementary building blocks of vision". Nature Reviews. Neuroscience. 15 (8): 507–519. doi:10.1038/nrn3783. PMID 25158357. S2CID 16309488.
Dunn FA, Wong RO (November 2014). "Wiring patterns in the mouse retina: collecting evidence across the connectome, physiology and light microscopy". The Journal of Physiology. 592 (22): 4809–4823. doi:10.1113/jphysiol.2014.277228. PMC 4259528. PMID 25172948.
Audo I, Robson AG, Holder GE, Moore AT (2008). "The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction". Survey of Ophthalmology. 53 (1): 16–40. doi:10.1016/j.survophthal.2007.10.010. PMID 18191655.
Garriga P, Manyosa J (September 2002). "The eye photoreceptor protein rhodopsin. Structural implications for retinal disease". FEBS Letters. 528 (1–3): 17–22. doi:10.1016/s0014-5793(02)03241-6. PMID 12297272. S2CID 41860711.
Rao VR, Cohen GB, Oprian DD (February 1994). "Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness". Nature. 367 (6464): 639–42. Bibcode:1994Natur.367..639R. doi:10.1038/367639a0. PMID 8107847. S2CID 4311079.
Dryja TP, Berson EL, Rao VR, Oprian DD (July 1993). "Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness". Nature Genetics. 4 (3): 280–3. doi:10.1038/ng0793-280. PMID 8358437. S2CID 7682929.
Sieving PA, Richards JE, Naarendorp F, Bingham EL, Scott K, Alpern M (January 1995). "Dark-light: model for nightblindness from the human rhodopsin Gly-90→Asp mutation". Proceedings of the National Academy of Sciences of the United States of America. 92 (3): 880–4. Bibcode:1995PNAS...92..880S. doi:10.1073/pnas.92.3.880. PMC 42724. PMID 7846071.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, et al. (November 2000). "Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness". Nature Genetics. 26 (3): 319–323. doi:10.1038/81619. PMID 11062471. S2CID 10223880.
Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, et al. (November 2000). "The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein". Nature Genetics. 26 (3): 324–327. doi:10.1038/81627. PMID 11062472. S2CID 42428370.
Gregg RG, Mukhopadhyay S, Candille SI, Ball SL, Pardue MT, McCall MA, Peachey NS (January 2003). "Identification of the gene and the mutation responsible for the mouse nob phenotype". Investigative Ophthalmology & Visual Science. 44 (1): 378–384. doi:10.1167/iovs.02-0501. PMID 12506099.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, et al. (February 2003). "Mutations in the CACNA1F and NYX genes in British CSNBX families". Human Mutation. 21 (2): 169. doi:10.1002/humu.9106. PMID 12552565. S2CID 13143864.
Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W (March 2005). "Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness". Molecular Vision. 11: 179–183. PMID 15761389.
Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q (2006). "CSNB1 in Chinese families associated with novel mutations in NYX". Journal of Human Genetics. 51 (7): 634–640. doi:10.1007/s10038-006-0406-5. PMID 16670814.
Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, et al. (July 1998). "An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness". Nature Genetics. 19 (3): 260–263. doi:10.1038/940. PMID 9662399. S2CID 34467174.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, et al. (July 1998). "Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness". Nature Genetics. 19 (3): 264–267. doi:10.1038/947. PMID 9662400. S2CID 42480901.
McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, et al. (February 2004). "The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution". The Journal of Neuroscience. 24 (7): 1707–1718. doi:10.1523/JNEUROSCI.4846-03.2004. PMC 6730460. PMID 14973233.
Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, et al. (October 2005). "Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina". Human Molecular Genetics. 14 (20): 3035–3046. doi:10.1093/hmg/ddi336. PMID 16155113.
Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, et al. (February 2001). "A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants". Human Genetics. 108 (2): 91–97. doi:10.1007/s004390100461. PMID 11281458. S2CID 2844173.
Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, et al. (August 2002). "Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina". European Journal of Human Genetics. 10 (8): 449–456. doi:10.1038/sj.ejhg.5200828. PMID 12111638.
Nakamura M, Ito S, Terasaki H, Miyake Y (June 2001). "Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness". Investigative Ophthalmology & Visual Science. 42 (7): 1610–1616. PMID 11381068.
Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y (July 2003). "Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family". Archives of Ophthalmology. 121 (7): 1028–1033. doi:10.1001/archopht.121.7.1028. PMID 12860808.
Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, et al. (November 2003). "Genotype-phenotype correlation in British families with X linked congenital stationary night blindness". The British Journal of Ophthalmology. 87 (11): 1413–1420. doi:10.1136/bjo.87.11.1413. PMC 1771890. PMID 14609846.
Hoda JC, Zaghetto F, Koschak A, Striessnig J (January 2005). "Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels". The Journal of Neuroscience. 25 (1): 252–259. doi:10.1523/JNEUROSCI.3054-04.2005. PMC 6725195. PMID 15634789.
Hoda JC, Zaghetto F, Singh A, Koschak A, Striessnig J (March 2006). "Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression". Journal of Neurochemistry. 96 (6): 1648–1658. doi:10.1111/j.1471-4159.2006.03678.x. PMID 16476079. S2CID 25987619.
Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, et al. (May 2005). "A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation". Proceedings of the National Academy of Sciences of the United States of America. 102 (21): 7553–7558. Bibcode:2005PNAS..102.7553H. doi:10.1073/pnas.0501907102. PMC 1140436. PMID 15897456.
Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, et al. (May 2003). "A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness". American Journal of Ophthalmology. 135 (5): 733–736. doi:10.1016/S0002-9394(02)02109-8. PMID 12719097.
Riggs, Lorrin A. (1954-07-01). "Electroretinography in Cases of Night Blindness*". American Journal of Ophthalmology. 38 (1): 70–78. doi:10.1016/0002-9394(54)90011-2. ISSN 0002-9394. PMID 13180620.
Bai, Dong'e; Guo, Ruru; Huang, Dandan; Ji, Jian; Liu, Wei (2024-03-15). "Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness". Heliyon. 10 (5): e27039. Bibcode:2024Heliy..1027039B. doi:10.1016/j.heliyon.2024.e27039. ISSN 2405-8440. PMC 10907788. PMID 38434377.
Schubert, G.; Bornschein, H. (2010-03-18). "Beitrag zur Analyse des menschlichen Elektroretinogramms". Ophthalmologica. 123 (6): 396–413. doi:10.1159/000301211. ISSN 0030-3755. PMID 14957416.
Riggs, Lorrin A. (1954-07-01). "Electroretinography in Cases of Night Blindness*". American Journal of Ophthalmology. 38 (1): 70–78. doi:10.1016/0002-9394(54)90011-2. ISSN 0002-9394. PMID 13180620.

ncbi.nlm.nih.gov

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Bai, Dong'e; Guo, Ruru; Huang, Dandan; Ji, Jian; Liu, Wei (2024-03-15). "Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness". Heliyon. 10 (5): e27039. Bibcode:2024Heliy..1027039B. doi:10.1016/j.heliyon.2024.e27039. ISSN 2405-8440. PMC 10907788. PMID 38434377.
Zeitz, Christina; Robson, Anthony G.; Audo, Isabelle (2015-03-01). "Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms". Progress in Retinal and Eye Research. 45: 58–110. doi:10.1016/j.preteyeres.2014.09.001. ISSN 1350-9462. PMID 25307992.
Riggs, Lorrin A. (1954-07-01). "Electroretinography in Cases of Night Blindness*". American Journal of Ophthalmology. 38 (1): 70–78. doi:10.1016/0002-9394(54)90011-2. ISSN 0002-9394. PMID 13180620.
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