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Usher syndrome(hereditary retinitis pigmentosa-deafhess syndrome)相关文献:
Retinitis Pigmentosa.
O'Neal TB, Luther EE.
2024 Feb 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:30137803
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C.
Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.
PMID:27460420
[Ciliopathies].
Gerth-Kahlert C, Koller S.
Klin Monbl Augenheilkd. 2018 Mar;235(3):264-272. doi: 10.1055/a-0573-9199. Epub 2018 Mar 13.
PMID:29534263
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J.
Acta Ophthalmol. 2020 Dec;98(8):e1034-e1048. doi: 10.1111/aos.14479. Epub 2020 Jun 1.
PMID:32483926
Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches.
Bonnet C, El-Amraoui A.
Curr Opin Neurol. 2012 Feb;25(1):42-9. doi: 10.1097/WCO.0b013e32834ef8b2.
PMID:22185901
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.
Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17.
PMID:23591405
Retinitis Pigmentosa in Onitsha, Nigeria.
Nwosu SNN, Ndulue CU, Ndulue OI, Uba-Obiano CU.
J West Afr Coll Surg. 2020 Apr-Jun;10(2):30-35. doi: 10.4103/jwas.jwas_65_21. Epub 2022 Mar 26.
PMID:35558569
Gene therapy in hereditary retinal dystrophy.
Chien JY, Huang SP.
Tzu Chi Med J. 2022 Aug 23;34(4):367-372. doi: 10.4103/tcmj.tcmj_78_22. eCollection 2022 Oct-Dec.
PMID:36578644
Gene therapy and genome surgery in the retina.
DiCarlo JE, Mahajan VB, Tsang SH.
J Clin Invest. 2018 Jun 1;128(6):2177-2188. doi: 10.1172/JCI120429. Epub 2018 Jun 1.
PMID:29856367
Gene and cell-based therapies for inherited retinal disorders: An update.
Sengillo JD, Justus S, Tsai YT, Cabral T, Tsang SH.
Am J Med Genet C Semin Med Genet. 2016 Dec;172(4):349-366. doi: 10.1002/ajmg.c.31534. Epub 2016 Nov 8.
PMID:27862925
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