Síndrome de Usher II (Usher Syndrome II)
■ Review of genotype-phenotype correlations in Usher syndrome
Eric Nisenbaum, Torin P. Thielhelm, Aida Nourbakhsh et al
Ear Hear. 2022 Jan-Feb; 43(1): 1–8
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613301/
■ A review of CRISPR tools for treating Usher syndrome: applicability, safety, efficiency, and in vivo delivery
Lauren Major, Michelle E. McClements, Robert E. MacLaren
Int J Mol Sci. 2023 Apr; 24(8): 7603
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10146473/
■ The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling
Jessica Schäfer, Nicole Wenck, Katharina Janik et al
Front Cell Dev Biol. 2023; 11: 1130058
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9944737/
■ The genetic and phenotypic landscapes of Usher syndrome: from disease mechanism toa new classification
Sedigheh Delmaghani, Aziz El-Amraoui
Hum Genet. 2022; 141(3-4): 709–735
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034986/
■ Usher syndrome
Alessandro Castiglione, Claes Möller
Audiol Res. 2022 Feb; 12(1): 42–6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8788290/
■ Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Hedwig M. Velde, Janine Reurink, Sebastian Held,et al
Hum Genet. 2022; 141(11): 1723–1738
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556359/
■ Novel biallelic USH2A variants in a patient with Usher syndrome type IIA – a case report
Su Ling Young, Chloe M. Stanton, Benjamin J. Livesey,et al
BMC Ophthalmol. 2022; 22: 140
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962547/
■ Phenotypic and genetic characteristics in a cohort of patients with Usher genes
Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, et al
Genes (Basel) 2022 Aug; 13(8): 1423
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9407802/
■ Decreased activity of piriform córtex and orbitofrontal hyperactivation in Usher syndrome, a human disorders of ciliary dysfunction
Sónia Ferreira, Isabel Catarina Duarte, André Paula, et al
Brain Imaging Behav. 2022; 16(3): 1176–1185
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107447/
■ Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials
Lilián Galbis‐Martínez, Fiona Blanco‐Kelly, Gema García‐García, et al
Acta Ophthalmol. 2021 Dec; 99(8): 922–930
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540557/
■ Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome
Nicholas Fowler, May El-Rashedy, Emad Chishti, Craig W. Vander Kooi, Ramiro Maldonado
Ophthalmic Genet. 2021 Jun; 42(3): 338–343
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8154670/
■ Usher syndrome belongs to the genetic diseases associated with radiosensitivity: influence of the ATM protein kinase
Joëlle Al-Choboq, Mélanie L. Ferlazzo, Laurène Sonzogni, et al
Int J Mol Sci. 2022 Feb; 23(3): 1570
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8836140/
■ Usher syndrome: clinical features, molecular genetics and advancing therapeutics
M Toms, W Pagarkar, |M Moosajee et al
Therapeutics Advances in Ophthalmology september 2020
https://journals.sagepub.com/doi/10.1177/2515841420952194
■ Síndrome de Usher I (Usher Syndrome I)
Arquivos Blog Internet Médica – julho 2018
https://internetmedica.com.br/sindrome-de-usher-usher-syndrome/
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Junho 2023