Results 151 to 160 of about 370,744 (189)

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population. [PDF]

Sci Rep
Heutinck PAT, Iglesias AI, Farhud DD, van Tienhoven M, Khoshraftar A, Zarif-Yeganeh M, Kia SK, Ghanbari M, Smoor MA, Klaver CCW, Hoefsloot LH, Thiadens AAHJ, Verhoeven VJM.   +12 more
europepmc   +1 more source

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines. [PDF]

NPJ Genom Med
Fernández-Suárez E, González-Del Pozo M, Méndez-Vidal C, Martín-Sánchez M, Mena M, García-Nuñez A, Bravo-Gil N, Morillo-Sánchez MJ, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.   +10 more
europepmc   +1 more source

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel <i>PRPH2</i> Variants. [PDF]

Biomedicines
Cascella R, Sebastiani J, Strafella C, Calvino G, Andreucci S, D'ambrosio M, Zampatti S, Levialdi Ghiron JH, Falsini B, Cusumano A, Giardina E.   +10 more
europepmc   +1 more source

Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies. [PDF]

Int J Mol Sci
Rodilla C, Núñez-Moreno G, Benitez Y, Rodríguez de Alba M, Blanco-Kelly F, López-Alcojor A, Fernández-Caballero L, Perea-Romero I, Del Pozo-Valero M, García-García G, Balanzá M, Villaverde C, Zurita O, Jubin C, Fund C, Delepine M, Leduc A, Deleuze JF, Millán JM, Minguez P, Corton M, Ayuso C.   +21 more
europepmc   +1 more source

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies. [PDF]

Invest Ophthalmol Vis Sci
Moekotte L, de Boer JH, Hiddingh S, de Ligt A, Nguyen XT, Hoyng CB, Inglehearn CF, McKibbin M, Lamey TM, Thompson JA, Chen FK, McLaren TL, AlTalbishi A, Panneman DM, Boonen EGM, Banfi S, Bocquet B, Meunier I, De Baere E, Koenekoop R, Oldak M, Rivolta C, Roberts L, Ramesar R, Strupaite-Šileikiene R, Kohl S, Farrar GJ, van Vugt M, van Setten J, Roosing S, van den Born LI, Boon CJF, van Genderen MM, Kuiper JJW.   +33 more
europepmc   +1 more source

Advances and Challenges in Gene Therapy for Inherited Retinal Dystrophies: A Comprehensive Review. [PDF]

Cureus
Jain R, Daigavane S.
europepmc   +1 more source

Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs). [PDF]

Biomedicines
D'Esposito F, Capobianco M, Gagliano C, Avitabile A, Gagliano G, Esposito G, Dammino E, Carotenuto A, Zeppieri M.   +8 more
europepmc   +1 more source

Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants. [PDF]

Sci Rep
Fan X, Li Z, Sha L, Sheng X, Rong W.
europepmc   +1 more source

Inherited retinal dystrophies and orphan designations in the European Union. [PDF]

Eur J Ophthalmol
Moseley J, Leest T, Larsson K, Magrelli A, Stoyanova-Beninska V.   +4 more
europepmc   +1 more source

Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients. [PDF]

Curr Issues Mol Biol
Park Y, Kim Y, Koh I, Lee JY.
europepmc   +1 more source