Results 151 to 160 of about 2,008 (179)

IFT88 maintains sensory function by localising signalling proteins along Drosophila cilia. [PDF]

Life Sci Alliance
Werner S, Okenve-Ramos P, Hehlert P, Zitouni S, Priya P, Mendonça S, Sporbert A, Spalthoff C, Göpfert MC, Jana SC, Bettencourt-Dias M.   +10 more
europepmc   +1 more source

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome. [PDF]

Invest Ophthalmol Vis Sci
Gong X, Boydstun IP, Lawhon WT, Hanna NN, Wall PB, Flickinger A, Hartmann EE, Hertle RW.   +7 more
europepmc   +1 more source

State of the Art on Inherited Retinal Dystrophies: Management and Molecular Genetics. [PDF]

J Clin Med
Nebbioso M, Artico M, Gharbiya M, Mannocci A, Limoli PG, Iannetta D, Donato L.   +6 more
europepmc   +1 more source

The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort. [PDF]

Int J Mol Sci
Sather R, Ihinger J, Simmons M, Lobo GP, Montezuma SR.   +4 more
europepmc   +1 more source

Clinical Applications of the Cone Contrast Test in Ophthalmology and Neurology. [PDF]

J Clin Med
Raju P, Yu M.
europepmc   +1 more source

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. [PDF]

Hum Mol Genet
Brock DC, Wang M, Hussain HMJ, Rauch DE, Marra M, Pennesi ME, Yang P, Everett L, Ajlan RS, Colbert J, Porto FBO, Matynia A, Gorin MB, Koenekoop RK, Lopez I, Sui R, Zou G, Li Y, Chen R.   +18 more
europepmc   +1 more source

Retinal Imaging Findings in Inherited Retinal Diseases. [PDF]

J Clin Med
Corradetti G, Verma A, Tojjar J, Almidani L, Oncel D, Emamverdi M, Bradley A, Lindenberg S, Nittala MG, Sadda SR.   +9 more
europepmc   +1 more source

Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Zhang S, Yi S, Zhang Q, Luo J.   +8 more
europepmc   +1 more source

RetiGene, a comprehensive gene atlas for inherited retinal diseases. [PDF]

Am J Hum Genet
Rivolta C, Celik E, Kamdar D, Cancellieri F, Kaminska K, Ullah M, Barberán-Martínez P, Bouckaert M, Cortón M, Delanote E, Fernández-Caballero L, García García G, Holtes LK, Karali M, Lopez I, Peter VG, Schneider N, Vincke L, Ayuso C, Banfi S, Bocquet B, Coppieters F, Cremers FPM, Inglehearn CF, Iwata T, Kalatzis V, Koenekoop RK, Millán JM, Sharon D, Toomes C, Quinodoz M.   +30 more
europepmc   +1 more source

Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort. [PDF]

Turk J Med Sci
Yaylacioğlu Tuncay F, Özdek Ş, Acar B, Kayhan G, Yüksel M, Özdemir HB, Gürelik G, Ergün MA.   +7 more
europepmc   +1 more source