Results 131 to 140 of about 33,870 (219)

Structural Abnormalities of the Brain Detected by 7 Tesla MRI in Patients with Usher Syndrome. [PDF]

J Clin Med
Nowomiejska K, Czarnek-Chudzik A, Niedziałek A, Toborek M, Midura M, Rejdak R, Pietura R.   +6 more
europepmc   +1 more source

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health. [PDF]

Cell Mol Life Sci
Bervoets S, Duijkers L, Velde HM, Corradi Z, van Oosten EM, Suárez-Herrera N, Garanto A, Moreno-Pelayo MA, Pennings RJE, Collin RWJ, Vázquez-Domínguez I.   +10 more
europepmc   +1 more source

A Recalcitrant Case of Senear-Usher Syndrome Treated With Rituximab. [PDF]

Cureus, 2023
de Vries JM, Moody P, Ojha A, Grise A, Sami N.   +4 more
europepmc   +1 more source

Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management. [PDF]

Genes (Basel)
D'Esposito F, Gagliano G, Gagliano C, Maniaci A, Avitabile A, Giglio R, Reibaldi M, Cordeiro MF, Zeppieri M.   +8 more
europepmc   +1 more source

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic Targets. [PDF]

Am J Med Genet C Semin Med Genet
Redfield SE, Mauriac SA, Géléoc GS, Shearer AE.   +3 more
europepmc   +1 more source

Gene Duplication in a Patient With Usher Syndrome Type 2C: A Case Report. [PDF]

Cureus
Ruiz Matos SJ, Negrón Lugo KA, Izquierdo N.   +2 more
europepmc   +1 more source

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review. [PDF]

Invest Ophthalmol Vis Sci, 2023
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ.   +13 more
europepmc   +1 more source

Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome. [PDF]

Cureus, 2023
Ayala Rodríguez SC, Ramirez Marquez E, Robles Bocanegra A, Izquierdo N, Oliver AL.   +4 more
europepmc   +1 more source

Refsum disease [PDF]

, 2015
Leroy, Bart, Wanders, Ronald JA, Waterham, Hans R   +2 more
core  

Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida. [PDF]

Hum Genomics
Cromar ZJ, Chen R, Riesgo TJ, Yan D, Verma LD, Chen Z, Blanton SH, Lam BL, Liu XZ.   +8 more
europepmc   +1 more source