Norrie disease (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Norrie disease" in English language version.

refsWebsite

Global rank English rank

29nih.gov

4^th place

17doi.org

2^nd place

7semanticscholar.org

11^th place

8^th place

2rarediseases.org

5,181^st place

3,260^th place

2web.archive.org

1^st place

2norriedisease.org.uk

low place

1genenames.org

low place

1handle.net

102^nd place

76^th place

1figshare.com

5,893^rd place

3,320^th place

1orpha.net

3,537^th place

7,177^th place

1natsip.org.uk

low place

1whonamedit.com

2,888^th place

2,730^th place

doi.org

Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL (July 2005). "Audiologic features of Norrie disease". The Annals of Otology, Rhinology, and Laryngology. 114 (7): 533–8. doi:10.1177/000348940511400707. hdl:10669/15119. PMID 16134349. S2CID 29284047.
Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, et al. (2006). "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity". Clinical & Experimental Ophthalmology. 34 (7): 682–8. doi:10.1111/j.1442-9071.2006.01314.x. PMID 16970763. S2CID 43683713.
Seller MJ, Pal K, Horsley S, Davies AF, Berry AC, Meredith R, McCartney AC (July 1995). "A fetus with an X;1 balanced reciprocal translocation and eye disease". Journal of Medical Genetics. 32 (7): 557–60. doi:10.1136/jmg.32.7.557. PMC 1050552. PMID 7562972.
Shastry BS, Hiraoka M, Trese DC, Trese MT (1999). "Norrie disease and exudative vitreoretinopathy in families with affected female carriers". European Journal of Ophthalmology. 9 (3): 238–42. doi:10.1177/112067219900900312. PMID 10544980. S2CID 37371789.
Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL (August 2012). "Norrie disease: extraocular clinical manifestations in 56 patients". American Journal of Medical Genetics. Part A. 158A (8): 1909–17. doi:10.1002/ajmg.a.35469. PMID 22786811. S2CID 9397893.
Donnai D, Mountford RC, Read AP (February 1988). "Norrie disease resulting from a gene deletion: clinical features and DNA studies". Journal of Medical Genetics. 25 (2): 73–8. doi:10.1136/jmg.25.2.73. PMC 1015446. PMID 3162283.
Halpin C, Sims K (November 2008). "Twenty years of audiology in a patient with Norrie disease". International Journal of Pediatric Otorhinolaryngology. 72 (11): 1705–10. doi:10.1016/j.ijporl.2008.08.007. PMID 18817988.
Sukumaran K (March 1991). "Bilateral Norrie's disease in identical twins". The British Journal of Ophthalmology. 75 (3): 179–80. doi:10.1136/bjo.75.3.179. PMC 1042303. PMID 2012789.
Zhang XY, Jiang WY, Chen LM, Chen SQ (2013). "A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family". International Journal of Ophthalmology. 6 (6): 739–43. doi:10.3980/j.issn.2222-3959.2013.06.01. PMC 3874509. PMID 24392318.
Stores G, Ramchandani P (May 1999). "Sleep disorders in visually impaired children". Developmental Medicine and Child Neurology. 41 (5): 348–52. doi:10.1111/j.1469-8749.1999.tb00615.x. PMID 10378763.
Vossler DG, Wyler AR, Wilkus RJ, Gardner-Walker G, Vlcek BW (May 1996). "Cataplexy and monoamine oxidase deficiency in Norrie disease". Neurology. 46 (5): 1258–61. doi:10.1212/WNL.46.5.1258. PMID 8628463. S2CID 45839803.
Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT (November 2004). "Norrie disease and peripheral venous insufficiency". The British Journal of Ophthalmology. 88 (11): 1475. doi:10.1136/bjo.2004.042556. PMC 1772398. PMID 15489496.
Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J (December 1993). "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure". Nature Genetics. 5 (4): 376–80. doi:10.1038/ng1293-376. PMID 8298646. S2CID 29858707.
Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P (January 2019). "Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease". Molecular Genetics & Genomic Medicine. 7 (1): e00503. doi:10.1002/mgg3.503. PMC 6382493. PMID 30474316.
Chow CC, Kiernan DF, Chau FY, Blair MP, Ticho BH, Galasso JM, Shapiro MJ (December 2010). "Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis". Ophthalmology. 117 (12): 2402–6. doi:10.1016/j.ophtha.2010.03.057. PMID 20619898.
Walsh MK, Drenser KA, Capone A, Trese MT (April 2010). "Early vitrectomy effective for Norrie disease". Archives of Ophthalmology. 128 (4): 456–60. doi:10.1001/archophthalmol.2009.403. PMID 20385941.
Warburg M (1961). "Norrie's disease: a new hereditary bilateral pseudotumour of the retina". Acta Ophthalmol. 39 (5): 757–772. doi:10.1111/j.1755-3768.1961.tb07740.x. S2CID 2525905.

figshare.com

Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, et al. (2006). "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity". Clinical & Experimental Ophthalmology. 34 (7): 682–8. doi:10.1111/j.1442-9071.2006.01314.x. PMID 16970763. S2CID 43683713.

genenames.org

"Symbol Report for NDP". Retrieved 23 January 2020.

handle.net

hdl.handle.net

Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL (July 2005). "Audiologic features of Norrie disease". The Annals of Otology, Rhinology, and Laryngology. 114 (7): 533–8. doi:10.1177/000348940511400707. hdl:10669/15119. PMID 16134349. S2CID 29284047.

natsip.org.uk

"National Sensory Impairment Partnership. Calling UK Norrie families - Dual Sensory Clinics for children and young people up to 18 yrs". 2019. Retrieved 21 January 2020.

nih.gov

pubmed.ncbi.nlm.nih.gov

Sims K (1993). "NDP-Related Retinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". NDP-Related Retinopathies. University of Washington, Seattle. PMID 20301506. Retrieved 28 January 2007. {{cite book}}: |journal= ignored (help)
Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL (July 2005). "Audiologic features of Norrie disease". The Annals of Otology, Rhinology, and Laryngology. 114 (7): 533–8. doi:10.1177/000348940511400707. hdl:10669/15119. PMID 16134349. S2CID 29284047.
Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, et al. (2006). "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity". Clinical & Experimental Ophthalmology. 34 (7): 682–8. doi:10.1111/j.1442-9071.2006.01314.x. PMID 16970763. S2CID 43683713.
Seller MJ, Pal K, Horsley S, Davies AF, Berry AC, Meredith R, McCartney AC (July 1995). "A fetus with an X;1 balanced reciprocal translocation and eye disease". Journal of Medical Genetics. 32 (7): 557–60. doi:10.1136/jmg.32.7.557. PMC 1050552. PMID 7562972.
Shastry BS, Hiraoka M, Trese DC, Trese MT (1999). "Norrie disease and exudative vitreoretinopathy in families with affected female carriers". European Journal of Ophthalmology. 9 (3): 238–42. doi:10.1177/112067219900900312. PMID 10544980. S2CID 37371789.
Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL (August 2012). "Norrie disease: extraocular clinical manifestations in 56 patients". American Journal of Medical Genetics. Part A. 158A (8): 1909–17. doi:10.1002/ajmg.a.35469. PMID 22786811. S2CID 9397893.
Chini V, Stambouli D, Nedelea FM, Filipescu GA, Mina D, Kambouris M, El-Shantil H (June 2014). "Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study". Eye Science. 29 (2): 104–7. PMID 26011961.
Donnai D, Mountford RC, Read AP (February 1988). "Norrie disease resulting from a gene deletion: clinical features and DNA studies". Journal of Medical Genetics. 25 (2): 73–8. doi:10.1136/jmg.25.2.73. PMC 1015446. PMID 3162283.
Halpin C, Sims K (November 2008). "Twenty years of audiology in a patient with Norrie disease". International Journal of Pediatric Otorhinolaryngology. 72 (11): 1705–10. doi:10.1016/j.ijporl.2008.08.007. PMID 18817988.
Saini JS, Sharma A, Pillai P, Mohan K (1992). "Norries disease". Indian Journal of Ophthalmology. 40 (1): 24–6. PMID 1464451.
Sukumaran K (March 1991). "Bilateral Norrie's disease in identical twins". The British Journal of Ophthalmology. 75 (3): 179–80. doi:10.1136/bjo.75.3.179. PMC 1042303. PMID 2012789.
Zhang XY, Jiang WY, Chen LM, Chen SQ (2013). "A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family". International Journal of Ophthalmology. 6 (6): 739–43. doi:10.3980/j.issn.2222-3959.2013.06.01. PMC 3874509. PMID 24392318.
Stores G, Ramchandani P (May 1999). "Sleep disorders in visually impaired children". Developmental Medicine and Child Neurology. 41 (5): 348–52. doi:10.1111/j.1469-8749.1999.tb00615.x. PMID 10378763.
Vossler DG, Wyler AR, Wilkus RJ, Gardner-Walker G, Vlcek BW (May 1996). "Cataplexy and monoamine oxidase deficiency in Norrie disease". Neurology. 46 (5): 1258–61. doi:10.1212/WNL.46.5.1258. PMID 8628463. S2CID 45839803.
Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT (November 2004). "Norrie disease and peripheral venous insufficiency". The British Journal of Ophthalmology. 88 (11): 1475. doi:10.1136/bjo.2004.042556. PMC 1772398. PMID 15489496.
Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J (December 1993). "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure". Nature Genetics. 5 (4): 376–80. doi:10.1038/ng1293-376. PMID 8298646. S2CID 29858707.
Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P (January 2019). "Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease". Molecular Genetics & Genomic Medicine. 7 (1): e00503. doi:10.1002/mgg3.503. PMC 6382493. PMID 30474316.
Chow CC, Kiernan DF, Chau FY, Blair MP, Ticho BH, Galasso JM, Shapiro MJ (December 2010). "Laser photocoagulation at birth prevents blindness in Norrie's disease diagnosed using amniocentesis". Ophthalmology. 117 (12): 2402–6. doi:10.1016/j.ophtha.2010.03.057. PMID 20619898.
Walsh MK, Drenser KA, Capone A, Trese MT (April 2010). "Early vitrectomy effective for Norrie disease". Archives of Ophthalmology. 128 (4): 456–60. doi:10.1001/archophthalmol.2009.403. PMID 20385941.

ncbi.nlm.nih.gov

Sims K (1993). "NDP-Related Retinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY". NDP-Related Retinopathies. University of Washington, Seattle. PMID 20301506. Retrieved 28 January 2007. {{cite book}}: |journal= ignored (help)
Seller MJ, Pal K, Horsley S, Davies AF, Berry AC, Meredith R, McCartney AC (July 1995). "A fetus with an X;1 balanced reciprocal translocation and eye disease". Journal of Medical Genetics. 32 (7): 557–60. doi:10.1136/jmg.32.7.557. PMC 1050552. PMID 7562972.
Donnai D, Mountford RC, Read AP (February 1988). "Norrie disease resulting from a gene deletion: clinical features and DNA studies". Journal of Medical Genetics. 25 (2): 73–8. doi:10.1136/jmg.25.2.73. PMC 1015446. PMID 3162283.
Sukumaran K (March 1991). "Bilateral Norrie's disease in identical twins". The British Journal of Ophthalmology. 75 (3): 179–80. doi:10.1136/bjo.75.3.179. PMC 1042303. PMID 2012789.
Zhang XY, Jiang WY, Chen LM, Chen SQ (2013). "A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family". International Journal of Ophthalmology. 6 (6): 739–43. doi:10.3980/j.issn.2222-3959.2013.06.01. PMC 3874509. PMID 24392318.
Michaelides M, Luthert PJ, Cooling R, Firth H, Moore AT (November 2004). "Norrie disease and peripheral venous insufficiency". The British Journal of Ophthalmology. 88 (11): 1475. doi:10.1136/bjo.2004.042556. PMC 1772398. PMID 15489496.
"NDP Norrie disease (pseudoglioma) [ Homo sapiens (human) ]". Gene. National Center for Biotechnology Information. Retrieved 26 October 2013.
Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P (January 2019). "Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease". Molecular Genetics & Genomic Medicine. 7 (1): e00503. doi:10.1002/mgg3.503. PMC 6382493. PMID 30474316.

ghr.nlm.nih.gov

"Norrie Disease". Genetics Home Reference. Retrieved 28 January 2007.
"Norrie disease (pseudoglioma)". Genetics Home Reference. U.S. National Library of Medicine. March 2008. Retrieved 18 March 2008.

norriedisease.org.uk

"Al-Yassin A, Norrie Disease Foundation, Unique. Unique and NDF Norrie Disease Information Leaflet" (PDF). 2018. Archived from the original (PDF) on 2020-01-27. Retrieved 2020-01-27.
"Norrie Disease Foundation. Research". 2017-10-31. Archived from the original on 2020-01-27. Retrieved 23 January 2020.

orpha.net

Sims K. "Norrie Disease". Retrieved 6 December 2019.

rarediseases.org

"Norrie Disease". National Organization for Rare Disorders. Retrieved 29 February 2024.
"Norrie Disease". National Organization for Rare Disorders. Retrieved 29 February 2024.

semanticscholar.org

api.semanticscholar.org

Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL (July 2005). "Audiologic features of Norrie disease". The Annals of Otology, Rhinology, and Laryngology. 114 (7): 533–8. doi:10.1177/000348940511400707. hdl:10669/15119. PMID 16134349. S2CID 29284047.
Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, et al. (2006). "Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity". Clinical & Experimental Ophthalmology. 34 (7): 682–8. doi:10.1111/j.1442-9071.2006.01314.x. PMID 16970763. S2CID 43683713.
Shastry BS, Hiraoka M, Trese DC, Trese MT (1999). "Norrie disease and exudative vitreoretinopathy in families with affected female carriers". European Journal of Ophthalmology. 9 (3): 238–42. doi:10.1177/112067219900900312. PMID 10544980. S2CID 37371789.
Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL (August 2012). "Norrie disease: extraocular clinical manifestations in 56 patients". American Journal of Medical Genetics. Part A. 158A (8): 1909–17. doi:10.1002/ajmg.a.35469. PMID 22786811. S2CID 9397893.
Vossler DG, Wyler AR, Wilkus RJ, Gardner-Walker G, Vlcek BW (May 1996). "Cataplexy and monoamine oxidase deficiency in Norrie disease". Neurology. 46 (5): 1258–61. doi:10.1212/WNL.46.5.1258. PMID 8628463. S2CID 45839803.
Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J (December 1993). "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure". Nature Genetics. 5 (4): 376–80. doi:10.1038/ng1293-376. PMID 8298646. S2CID 29858707.
Warburg M (1961). "Norrie's disease: a new hereditary bilateral pseudotumour of the retina". Acta Ophthalmol. 39 (5): 757–772. doi:10.1111/j.1755-3768.1961.tb07740.x. S2CID 2525905.

web.archive.org

"Al-Yassin A, Norrie Disease Foundation, Unique. Unique and NDF Norrie Disease Information Leaflet" (PDF). 2018. Archived from the original (PDF) on 2020-01-27. Retrieved 2020-01-27.
"Norrie Disease Foundation. Research". 2017-10-31. Archived from the original on 2020-01-27. Retrieved 23 January 2020.

whonamedit.com

Gordon Norrie at Who Named It?. Retrieved 13 February 2007.