Results 151 to 160 of about 417,668 (180)

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies. [PDF]

Genes (Basel)
Harford D, Conway M, Moran B, Zhu J, Turner J, Dockery A, O'Byrne JJ, Flitcroft DI, Burke T, Stephenson KAJ, Farrar GJ, Keegan DJ.   +11 more
europepmc   +1 more source

Retinopathy and focal segmental glomerulosclerosis are not uncommon phenotypic features in m.3243A>G carriers. [PDF]

Int J Ophthalmol
Finsterer J.
europepmc   +1 more source

Swept-Source Wide-Field OCT and OCTA (24 × 20 mm and 26 × 21 mm) in Inherited Retinal Dystrophies: First Clinical Experience with Two Novel Devices. [PDF]

J Clin Med
Farmand G, Kellner U.
europepmc   +1 more source

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations. [PDF]

HGG Adv
Liskova P, Dudakova L, Kaminska K, Kühlewein L, Shliaga S, Leibu R, Ehrenberg M, Zur D, Zernant J, Bauwens M, Arno G, Müller I, Ziemssen F, Bothe V, Cancellieri F, De Zaeytijd J, Mazzola P, Lee W, Kousal B, Vajter M, van den Born LI, Sonntag A, van Leeuwen Y, Smailhodzic D, Klaver CCW, Haack TB, Wissinger B, Webster AR, Haer-Wigman L, Lin S, Menghini M, Platzer K, De Baere E, Allikmets R, Rivolta C, Roosing S, Kohl S, Ben-Yosef T, Quinodoz M.   +38 more
europepmc   +1 more source

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant. [PDF]

Am J Case Rep
Alanazi KA, Alosaimi SM, Alzuabi A.
europepmc   +1 more source

Early Molecular Testing for Presumptive Genetic Eye Diseases. [PDF]

Genes (Basel)
Ibarra-Ramírez M, Mohamed-Noriega J, Arenas-Estala J, Rodríguez-Torres DA, Campos-Acevedo LD, Fernández-de-Luna ML.   +5 more
europepmc   +1 more source

Spectral-Domain Optical Coherence Tomography Morphological Characteristics in Patients with Cone Dysfunction Disorders: A Retrospective Case Series. [PDF]

Clin Ophthalmol
Khojasteh H, Bazvand F, Haidari M, Akhavanrezayat A, Mahmoudi A, Mohammadi SS, Riazi Esfahani H, Mirghorbani M, Sheikholeslami Salmasi A, Azarkish A, Regenold J, Karaca I, Yavari N, Shen M, Uludag Kirimli G, Or C, Ghoraba HH, Nguyen QD, Leung LB.   +18 more
europepmc   +1 more source

Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort. [PDF]

Invest Ophthalmol Vis Sci
Ognik K, Cholewinska E, Witkowska E, Solek P, Solowiej B, Jonak K, Pietras-Baczewska A, Gajda-Derylo B, Rejdak R, Nowomiejska K.   +9 more
europepmc   +1 more source

Sporadic cone-rod dystrophy caused by a heterozygous RAB28 p.Ser23Phe pathogenic variant and a de novo 4p16.1p15.33 deletion. [PDF]

BMC Med Genomics
Park J, Jang W, Ahn Y, Lee HJ.
europepmc   +1 more source

ALPK1-Associated ROSAH Syndrome in a Polish Pedigree. [PDF]

Genes (Basel)
Pietras-Baczewska A, Chmiel A, Ognik K, Rejdak R, Nowomiejska K.   +4 more
europepmc   +1 more source