Sindrome di Usher (Italian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Sindrome di Usher" in Italian language version.

refsWebsite

Global rank Italian rank

17nih.gov

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16doi.org

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11oadoi.org

799^th place

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3archive.org

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1bmj.com

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1springerlink.com

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archive.org

Otterstedde CR, Spandau U, Blankenagel A, Kimberling WJ, Reisser C, A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I, in Laryngoscope, vol. 111, n. 1, 2001, pp. 84-86, DOI:10.1097/00005537-200101000-00014, PMID 11192904.
Hope CI, Bundey S, Proops D, Fielder AR, Usher syndrome in the city of Birmingham — prevalence and clinical classification, in British Journal of Ophthalmology, vol. 81, n. 1, 1997, pp. 46-53, DOI:10.1136/bjo.81.1.46, PMC 1721995, PMID 9135408.
S Gerber, D Bonneau, B Gilbert, A Munnich, JL Dufier, JM Rozet e J Kaplan, USH1A: chronicle of a slow death, in American Journal of Human Genetics, vol. 78, n. 2, 2006, pp. 357-9, DOI:10.1086/500275, PMC 1380243, PMID 16400615.

bmj.com

jmg.bmj.com

Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M, Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%, in J Med Genet, vol. 43, n. 9, 2006, pp. 763-768, DOI:10.1136/jmg.2006.041954, PMC 2564578, PMID 16679490.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ, Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population ^{[collegamento interrotto]}, in Hum Genet, vol. 116, n. 4, 2005, pp. 292-299, DOI:10.1007/s00439-004-1227-2, PMID 15660226.

doi.org

dx.doi.org

Williams DS, Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy, in Vision Research, xx, n. 3, 2007, pp. xx–xx, DOI:10.1016/j.visres.2007.08.015, PMC 2680226, PMID 17936325.
Vernon M, Usher's syndrome — deafness and progressive blindness. Clinical cases, prevention, theory and literature survey, in Journal of Chronic Diseases, vol. 22, n. 3, 1969, pp. 133-151, DOI:10.1016/0021-9681(69)90055-1, PMID 4897966.
Boughman J, Vernon M, Shaver K, Usher syndrome: Definition and estimate of prevalence from two high-risk populations, in Journal of Chronic Diseases, vol. 36, n. 8, 1983, pp. 595-603, DOI:10.1016/0021-9681(83)90147-9, PMID 6885960.
Grøndahl J, Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway, in Clin. Genet., vol. 31, n. 4, 1987, pp. 255-264, DOI:10.1111/j.1399-0004.1987.tb02804.x, PMID 3594933.
Otterstedde CR, Spandau U, Blankenagel A, Kimberling WJ, Reisser C, A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I, in Laryngoscope, vol. 111, n. 1, 2001, pp. 84-86, DOI:10.1097/00005537-200101000-00014, PMID 11192904.
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, et al., Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium, in American Journal of Medical Genetics, vol. 50, n. 1, 1994, pp. 32-38, DOI:10.1002/ajmg.1320500107, PMID 8160750.
Fishman GA, Kumar A, Joseph ME, Torok N, and Andersonj RJ, Usher's syndrome, in Archives of Ophthalmology, vol. 101, n. 9, 1983, pp. 1367-1374, DOI:10.1001/archopht.1983.01040020369005, PMID 6604514.
Hammerschlag V, Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential diagnostische Bedeutung, in Z. Ohrenheilk., vol. 54, 1907, pp. 18-36.
Bell J, Retinitis Pigmentosa and Allied Diseases, 2nd, London, Cambridge University Press, 1933.
Hallgren B, Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: Clinical and geneto-statistical survey, in Acta Psychiatrica Scandinavica. Supplementum, vol. 34, n. 138, 1959, pp. 9-101, DOI:10.1111/j.1600-0447.1959.tb08605.x, PMID 14399116.
Merin S, Auerbach E, Retinitis pigmentosa, in Surv. Ophthalmol., vol. 20, n. 5, 1976, pp. 303-345, DOI:10.1016/S0039-6257(96)90001-6, PMID 817406.
Davenport S, Omenn G, The Heterogeneity of Usher Syndrome, volume 426, Amsterdam, Excerpta Medica Foundation, 1977.
Gorlin R, Tilsner T, Feinstein S, Duvall AJ, Usher syndrome type III, in Arch. Otolaryngol., vol. 105, n. 6, 1979, pp. 353-354, DOI:10.1001/archotol.1979.00790180051011, PMID 454290.
Sankila EM, Pakarinen H, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A, Assignment of Usher syndrome type III (USH3) gene to chromosome 3q, in Hum. Mol. Genetics, vol. 4, n. 1, 1995, pp. 93-98, DOI:10.1093/hmg/4.1.93, PMID 7711740.
Pakarinen L, Tuppurainen K, Laipapala P, Mäntyjärvi M, Puhakka H, The ophthalmological course of Usher syndrome type III, in International Ophthalmology, vol. 19, n. 5, 1996, pp. 307-311, DOI:10.1007/BF00130927, PMID 8864816.
Hope CI, Bundey S, Proops D, Fielder AR, Usher syndrome in the city of Birmingham — prevalence and clinical classification, in British Journal of Ophthalmology, vol. 81, n. 1, 1997, pp. 46-53, DOI:10.1136/bjo.81.1.46, PMC 1721995, PMID 9135408.
Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M, Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%, in J Med Genet, vol. 43, n. 9, 2006, pp. 763-768, DOI:10.1136/jmg.2006.041954, PMC 2564578, PMID 16679490.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ, Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population ^{[collegamento interrotto]}, in Hum Genet, vol. 116, n. 4, 2005, pp. 292-299, DOI:10.1007/s00439-004-1227-2, PMID 15660226.
C Petit, Usher syndrome: from genetics to pathogenesis, in Annual review of genomics and human genetics, vol. 2, 2001, pp. 271-97, DOI:10.1146/annurev.genom.2.1.271, PMID 11701652.
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker e U Wolfrum, Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease, in Experimental eye research, vol. 83, n. 1, 2006, pp. 97-119, DOI:10.1016/j.exer.2005.11.010, PMID 16545802.
S Gerber, D Bonneau, B Gilbert, A Munnich, JL Dufier, JM Rozet e J Kaplan, USH1A: chronicle of a slow death, in American Journal of Human Genetics, vol. 78, n. 2, 2006, pp. 357-9, DOI:10.1086/500275, PMC 1380243, PMID 16400615.
Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS, Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B, in Gene Therapy, vol. 14, n. 7, 2007, pp. 584-594, DOI:10.1038/sj.gt.3302897, PMID 17268537.

nih.gov

ncbi.nlm.nih.gov

Mets MB, Young NM, Pass A, Lasky JB, Early diagnosis of Usher syndrome in children, in Transactions of the American Ophthalmological Society, vol. 98, 2000, pp. 237-45, PMC 1298229, PMID 11190026.
Williams DS, Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy, in Vision Research, xx, n. 3, 2007, pp. xx–xx, DOI:10.1016/j.visres.2007.08.015, PMC 2680226, PMID 17936325.
Vernon M, Usher's syndrome — deafness and progressive blindness. Clinical cases, prevention, theory and literature survey, in Journal of Chronic Diseases, vol. 22, n. 3, 1969, pp. 133-151, DOI:10.1016/0021-9681(69)90055-1, PMID 4897966.
Boughman J, Vernon M, Shaver K, Usher syndrome: Definition and estimate of prevalence from two high-risk populations, in Journal of Chronic Diseases, vol. 36, n. 8, 1983, pp. 595-603, DOI:10.1016/0021-9681(83)90147-9, PMID 6885960.
Grøndahl J, Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway, in Clin. Genet., vol. 31, n. 4, 1987, pp. 255-264, DOI:10.1111/j.1399-0004.1987.tb02804.x, PMID 3594933.
Otterstedde CR, Spandau U, Blankenagel A, Kimberling WJ, Reisser C, A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I, in Laryngoscope, vol. 111, n. 1, 2001, pp. 84-86, DOI:10.1097/00005537-200101000-00014, PMID 11192904.
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, et al., Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium, in American Journal of Medical Genetics, vol. 50, n. 1, 1994, pp. 32-38, DOI:10.1002/ajmg.1320500107, PMID 8160750.
Fishman GA, Kumar A, Joseph ME, Torok N, and Andersonj RJ, Usher's syndrome, in Archives of Ophthalmology, vol. 101, n. 9, 1983, pp. 1367-1374, DOI:10.1001/archopht.1983.01040020369005, PMID 6604514.
Hammerschlag V, Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential diagnostische Bedeutung, in Z. Ohrenheilk., vol. 54, 1907, pp. 18-36.
Bell J, Retinitis Pigmentosa and Allied Diseases, 2nd, London, Cambridge University Press, 1933.
Hallgren B, Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: Clinical and geneto-statistical survey, in Acta Psychiatrica Scandinavica. Supplementum, vol. 34, n. 138, 1959, pp. 9-101, DOI:10.1111/j.1600-0447.1959.tb08605.x, PMID 14399116.
Merin S, Auerbach E, Retinitis pigmentosa, in Surv. Ophthalmol., vol. 20, n. 5, 1976, pp. 303-345, DOI:10.1016/S0039-6257(96)90001-6, PMID 817406.
Davenport S, Omenn G, The Heterogeneity of Usher Syndrome, volume 426, Amsterdam, Excerpta Medica Foundation, 1977.
Gorlin R, Tilsner T, Feinstein S, Duvall AJ, Usher syndrome type III, in Arch. Otolaryngol., vol. 105, n. 6, 1979, pp. 353-354, DOI:10.1001/archotol.1979.00790180051011, PMID 454290.
Sankila EM, Pakarinen H, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A, Assignment of Usher syndrome type III (USH3) gene to chromosome 3q, in Hum. Mol. Genetics, vol. 4, n. 1, 1995, pp. 93-98, DOI:10.1093/hmg/4.1.93, PMID 7711740.
Pakarinen L, Tuppurainen K, Laipapala P, Mäntyjärvi M, Puhakka H, The ophthalmological course of Usher syndrome type III, in International Ophthalmology, vol. 19, n. 5, 1996, pp. 307-311, DOI:10.1007/BF00130927, PMID 8864816.
Hope CI, Bundey S, Proops D, Fielder AR, Usher syndrome in the city of Birmingham — prevalence and clinical classification, in British Journal of Ophthalmology, vol. 81, n. 1, 1997, pp. 46-53, DOI:10.1136/bjo.81.1.46, PMC 1721995, PMID 9135408.
Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M, Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%, in J Med Genet, vol. 43, n. 9, 2006, pp. 763-768, DOI:10.1136/jmg.2006.041954, PMC 2564578, PMID 16679490.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ, Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population ^{[collegamento interrotto]}, in Hum Genet, vol. 116, n. 4, 2005, pp. 292-299, DOI:10.1007/s00439-004-1227-2, PMID 15660226.
C Petit, Usher syndrome: from genetics to pathogenesis, in Annual review of genomics and human genetics, vol. 2, 2001, pp. 271-97, DOI:10.1146/annurev.genom.2.1.271, PMID 11701652.
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker e U Wolfrum, Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease, in Experimental eye research, vol. 83, n. 1, 2006, pp. 97-119, DOI:10.1016/j.exer.2005.11.010, PMID 16545802.
S Gerber, D Bonneau, B Gilbert, A Munnich, JL Dufier, JM Rozet e J Kaplan, USH1A: chronicle of a slow death, in American Journal of Human Genetics, vol. 78, n. 2, 2006, pp. 357-9, DOI:10.1086/500275, PMC 1380243, PMID 16400615.
Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS, Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B, in Gene Therapy, vol. 14, n. 7, 2007, pp. 584-594, DOI:10.1038/sj.gt.3302897, PMID 17268537.

oadoi.org

Vernon M, Usher's syndrome — deafness and progressive blindness. Clinical cases, prevention, theory and literature survey, in Journal of Chronic Diseases, vol. 22, n. 3, 1969, pp. 133-151, DOI:10.1016/0021-9681(69)90055-1, PMID 4897966.
Boughman J, Vernon M, Shaver K, Usher syndrome: Definition and estimate of prevalence from two high-risk populations, in Journal of Chronic Diseases, vol. 36, n. 8, 1983, pp. 595-603, DOI:10.1016/0021-9681(83)90147-9, PMID 6885960.
Grøndahl J, Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway, in Clin. Genet., vol. 31, n. 4, 1987, pp. 255-264, DOI:10.1111/j.1399-0004.1987.tb02804.x, PMID 3594933.
Smith RJ, Berlin CI, Hejtmancik JF, Keats BJ, Kimberling WJ, Lewis RA, et al., Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium, in American Journal of Medical Genetics, vol. 50, n. 1, 1994, pp. 32-38, DOI:10.1002/ajmg.1320500107, PMID 8160750.
Fishman GA, Kumar A, Joseph ME, Torok N, and Andersonj RJ, Usher's syndrome, in Archives of Ophthalmology, vol. 101, n. 9, 1983, pp. 1367-1374, DOI:10.1001/archopht.1983.01040020369005, PMID 6604514.
Hammerschlag V, Zur Kenntnis der hereditaer-degenerativen Taubstummen und ihre differential diagnostische Bedeutung, in Z. Ohrenheilk., vol. 54, 1907, pp. 18-36.
Bell J, Retinitis Pigmentosa and Allied Diseases, 2nd, London, Cambridge University Press, 1933.
Hallgren B, Retinitis pigmentosa combined with congenital deafness with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: Clinical and geneto-statistical survey, in Acta Psychiatrica Scandinavica. Supplementum, vol. 34, n. 138, 1959, pp. 9-101, DOI:10.1111/j.1600-0447.1959.tb08605.x, PMID 14399116.
Merin S, Auerbach E, Retinitis pigmentosa, in Surv. Ophthalmol., vol. 20, n. 5, 1976, pp. 303-345, DOI:10.1016/S0039-6257(96)90001-6, PMID 817406.
Davenport S, Omenn G, The Heterogeneity of Usher Syndrome, volume 426, Amsterdam, Excerpta Medica Foundation, 1977.
Gorlin R, Tilsner T, Feinstein S, Duvall AJ, Usher syndrome type III, in Arch. Otolaryngol., vol. 105, n. 6, 1979, pp. 353-354, DOI:10.1001/archotol.1979.00790180051011, PMID 454290.
Sankila EM, Pakarinen H, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A, Assignment of Usher syndrome type III (USH3) gene to chromosome 3q, in Hum. Mol. Genetics, vol. 4, n. 1, 1995, pp. 93-98, DOI:10.1093/hmg/4.1.93, PMID 7711740.
Pakarinen L, Tuppurainen K, Laipapala P, Mäntyjärvi M, Puhakka H, The ophthalmological course of Usher syndrome type III, in International Ophthalmology, vol. 19, n. 5, 1996, pp. 307-311, DOI:10.1007/BF00130927, PMID 8864816.
C Petit, Usher syndrome: from genetics to pathogenesis, in Annual review of genomics and human genetics, vol. 2, 2001, pp. 271-97, DOI:10.1146/annurev.genom.2.1.271, PMID 11701652.
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker e U Wolfrum, Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease, in Experimental eye research, vol. 83, n. 1, 2006, pp. 97-119, DOI:10.1016/j.exer.2005.11.010, PMID 16545802.
Hashimoto T, Gibbs D, Lillo C, Azarian SM, Legacki E, Zhang XM, Yang XJ, Williams DS, Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B, in Gene Therapy, vol. 14, n. 7, 2007, pp. 584-594, DOI:10.1038/sj.gt.3302897, PMID 17268537.

springerlink.com

Roux AF, Faugere V, Le Guedard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M, Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%, in J Med Genet, vol. 43, n. 9, 2006, pp. 763-768, DOI:10.1136/jmg.2006.041954, PMC 2564578, PMID 16679490.
Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ, Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population ^{[collegamento interrotto]}, in Hum Genet, vol. 116, n. 4, 2005, pp. 292-299, DOI:10.1007/s00439-004-1227-2, PMID 15660226.