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Select item 31026071.

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1

Gaël Manes, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéchal, Anne Bolland-Augé, Diana Zelenika, Christian P Hamel

BMC Med Genet. 2011; 12: 54. Published online 2011 Apr 15. doi: 10.1186/1471-2350-12-54

PMCID:: PMC3102607

Abstract Article PDF–1.1M

Select item 103790862.

Progressive Cone-Rod Dystrophy and RPE Dysfunction in Mitf^mi/+ Mice

Andrea García-Llorca, Knútur Haukstein Ólafsson, Arnór Thorri Sigurdsson, Thor Eysteinsson

Genes (Basel) 2023 Jul; 14(7): 1458. Published online 2023 Jul 17. doi: 10.3390/genes14071458

PMCID:: PMC10379086

Abstract Article PDF–8.7M

Select item 93818473.

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

Maria Pilar Martin-Gutierrez, Elena R. Schiff, Genevieve Wright, Naushin Waseem, Omar A. Mahroo, Michel Michaelides, Anthony T. Moore, Andrew R. Webster, Gavin Arno, for the Genomics England Research Consortium

Invest Ophthalmol Vis Sci. 2022 Aug; 63(9): 14. Published online 2022 Aug 10. doi: 10.1167/iovs.63.9.14

PMCID:: PMC9381847

Abstract Article PDF–3.8M

Select item 92063934.

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Katie M. Williams, Michalis Georgiou, Angelos Kalitzeos, Isabelle Chow, Pirro G. Hysi, Anthony G. Robson, Gareth Lingham, Fred K. Chen, David A. Mackey, Andrew R. Webster, Christopher J. Hammond, Polina Prokhoda, Joseph Carroll, Michel Michaelides, Omar A. Mahroo

Invest Ophthalmol Vis Sci. 2022 Jun; 63(6): 15. Published online 2022 Jun 15. doi: 10.1167/iovs.63.6.15

PMCID:: PMC9206393

Abstract Article PDF–2.0M

Select item 91744835.

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center

Mythily Ganapathi, Amanda Thomas-Wilson, Christie Buchovecky, Avinash Dharmadhikari, Subit Barua, Winston Lee, Merry Z. C. Ruan, Megan Soucy, Sara Ragi, Joy Tanaka, Lorraine N. Clark, Ali B. Naini, Jun Liao, Mahesh Mansukhani, Stephen Tsang, Vaidehi Jobanputra

Sci Rep. 2022; 12: 9358. Published online 2022 Jun 7. doi: 10.1038/s41598-022-13026-2

PMCID:: PMC9174483

Abstract Article PDF–969K

Select item 89636676.

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

Veronika Vaclavik, Leila Tiab, Young Joo Sun, Vinit B. Mahajan, Alexandre Moulin, Nathalie Allaman-Pillet, Francis L. Munier, Daniel F. Schorderet

Invest Ophthalmol Vis Sci. 2022 Mar; 63(3): 23. Published online 2022 Mar 25. doi: 10.1167/iovs.63.3.23

PMCID:: PMC8963667

Abstract Article PDF–2.6M

Select item 86577847.

Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier

Int J Mol Sci. 2021 Dec; 22(23): 12642. Published online 2021 Nov 23. doi: 10.3390/ijms222312642

PMCID:: PMC8657784

Abstract Article PDF–3.3M

Select item 82412248.

Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient

Ana Drole Torkar, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Trebušak Podkrajšek, Maruša Debeljak, Branislava Stirn Kranjc, Tadej Battelino, Primož Kotnik

Front Endocrinol (Lausanne) 2021; 12: 581134. Published online 2021 Jun 15. doi: 10.3389/fendo.2021.581134

PMCID:: PMC8241224

Abstract Article PDF–774K

Select item 81427219.

Characterization of PROM1 p.Arg373Cys Variant in a Cohort of Chinese Patients: Macular Dystrophy Plus Peripheral Bone-Spicule Degeneration

Yingwei Wang, Panfeng Wang, Shiqiang Li, Jiamin Ouyang, Xiaoyun Jia, Xueshan Xiao, Junxing Yang, Xueqing Li, Wenmin Sun, Qingjiong Zhang

Invest Ophthalmol Vis Sci. 2021 May; 62(6): 19. Published online 2021 May 18. doi: 10.1167/iovs.62.6.19

PMCID:: PMC8142721

Abstract Article PDF–8.7M

Select item 796189810.

Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3

Michalitsa Diakatou, Gregor Dubois, Nejla Erkilic, Carla Sanjurjo-Soriano, Isabelle Meunier, Vasiliki Kalatzis

Int J Mol Sci. 2021 Mar; 22(5): 2607. Published online 2021 Mar 5. doi: 10.3390/ijms22052607

PMCID:: PMC7961898

Abstract Article PDF–2.7M

Select item 754508511.

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults

Malena Daich Varela, Ehsan Ullah, Sairah Yousaf, Brian P. Brooks, Robert B. Hufnagel, Laryssa A. Huryn

Invest Ophthalmol Vis Sci. 2020 Oct; 61(12): 1. Published online 2020 Oct 1. doi: 10.1167/iovs.61.12.1

PMCID:: PMC7545085

Abstract Article PDF–2.8M

Select item 694747112.

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

Ana Fakin, Maja Šuštar, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina

Genes (Basel) 2019 Dec; 10(12): 956. Published online 2019 Nov 21. doi: 10.3390/genes10120956

PMCID:: PMC6947471

Abstract Article PDF–5.1M

Select item 692542213.

Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians

Agnese Suppiej, Silvia Marino, Maria Eleonora Reffo, Veronica Maritan, Giovanna Vitaliti, Janette Mailo, Raffaele Falsaperla

Ital J Pediatr. 2019; 45: 168. Published online 2019 Dec 21. doi: 10.1186/s13052-019-0760-5

PMCID:: PMC6925422

Abstract Article PDF–514K

Select item 691313914.

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis

Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Jr., Akemi J. Tanaka, Karen Sophia Park, Vinit B. Mahajan, Irene H. Maumenee, Stephen H. Tsang

Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004481. doi: 10.1101/mcs.a004481

PMCID:: PMC6913139

Abstract Article PDF–2.3M

Select item 677773615.

Modification of the PROM1 Disease Phenotype by a Mutation in ABCA4

Winston Lee, Maarjaliis Paavo, Jana Zernant, Nicholas Stong, Zachary Laurente, Srilaxmi Bearelly, Takayuki Nagasaki, Stephen H. Tsang, David B. Goldstein, Rando Allikmets

Ophthalmic Genet. Author manuscript; available in PMC 2020 Sep 6.

Published in final edited form as: Ophthalmic Genet. 2019 Aug; 40(4): 369–375. Published online 2019 Sep 6. doi: 10.1080/13816810.2019.1660382

PMCID:: PMC6777736

Abstract Article PDF–1.2M

Select item 675580116.

Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration

Zhaojing Lu, Xuebin Hu, James Reilly, Danna Jia, Fei Liu, Shanshan Yu, Xiliang Liu, Shanglun Xie, Zhen Qu, Yayun Qin, Yuwen Huang, Yuexia Lv, Jingzhen Li, Pan Gao, Fulton Wong, Xinhua Shu, Zhaohui Tang, Mugen Liu

J Biol Chem. 2019 Sep 20; 294(38): 13953–13963. Published online 2019 Jul 30. doi: 10.1074/jbc.RA119.008618

PMCID:: PMC6755801

Abstract Article PDF–3.6M

Select item 657515317.

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration

Jasmina Cehajic-Kapetanovic, Johannes Birtel, Michelle E. McClements, Morag E. Shanks, Penny Clouston, Susan M. Downes, Peter Charbel Issa, Robert E. MacLaren

JAMA Netw Open. 2019 Jun; 2(6): e195752. Published online 2019 Jun 14. doi: 10.1001/jamanetworkopen.2019.5752

PMCID:: PMC6575153

Abstract Article

Select item 656784118.

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B

Samer Khateb, Marco Nassisi, Kinga M. Bujakowska, Cécile Méjécase, Christel Condroyer, Aline Antonio, Marine Foussard, Vanessa Démontant, Saddek Mohand-Saïd, José-Alain Sahel, Christina Zeitz, Isabelle Audo

JAMA Ophthalmol. 2019 Jun; 137(6): 669–679. Published online 2019 Apr 18. doi: 10.1001/jamaophthalmol.2018.6367

PMCID:: PMC6567841

Abstract Article

Select item 653836619.

Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy

Frederick T. Collison, Gerald A. Fishman, Takayuki Nagasaki, Jana Zernant, J. Jason McAnany, Jason C. Park, Rando Allikmets

Invest Ophthalmol Vis Sci. 2019 May; 60(6): 2347–2356. doi: 10.1167/iovs.19-26993

PMCID:: PMC6538366

Abstract Article PDF–1.2M

Select item 593767220.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela, Rafal Ploski, Malgorzata Rydzanicz, Maciej Sykulski, Jaroslaw Kociecki, Nicole Weisschuh, Susanne Kohl, Saskia Biskup, Bernd Wissinger, Maciej R. Krawczynski

Mol Vis. 2018; 24: 326–339. Published online 2018 Apr 26.

PMCID:: PMC5937672

Abstract Article PDF–1.7M

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