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Select item 112135101.

Primary cilia formation requires the Leigh syndrome–associated mitochondrial protein NDUFAF2

Chien-Hui Lo, Zhiquan Liu, Siyu Chen, Frank Lin, Andrew R. Berneshawi, Charles Q. Yu, Euna B. Koo, Tia J. Kowal, Ke Ning, Yang Hu, Won-Jing Wang, Y. Joyce Liao, Yang Sun

J Clin Invest. 2024 Jul 1; 134(13): e175560. Published online 2024 Jul 1. doi: 10.1172/JCI175560

PMCID:: PMC11213510

Abstract Article PDF–15M

Select item 112028732.

The Clinical and Mutational Spectrum of Bardet–Biedl Syndrome in Saudi Arabia

Doaa Milibari, Sawsan R. Nowilaty, Rola Ba-Abbad

Genes (Basel) 2024 Jun; 15(6): 762. Published online 2024 Jun 11. doi: 10.3390/genes15060762

PMCID:: PMC11202873

Abstract Article PDF–1.2M

Select item 111852703.

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy

Francesco Testa, Ester Carreño, L. Ingeborgh van den Born, Paolo Melillo, Irene Perea-Romero, Valentina Di Iorio, Giulia Risca, Clemente Maria Iodice, Ronald J. E. Pennings, Marianthi Karali, Sandro Banfi, Alberto Auricchio, Stefania Galimberti, Carmen Ayuso, Francesca Simonelli

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 25. Published online 2024 Jun 17. doi: 10.1167/iovs.65.6.25

PMCID:: PMC11185270

Abstract Article PDF–1.6M

Select item 111697644.

Retinitis pigmentosa with iris coloboma due to miR‐204 gene variant in a Chinese family

Zhang Lei, Zhu He‐Lin, Wang Hai‐Yan, Jia Wei, Wang Ru, Cui Zhi‐Li, Wang Qian‐Feng

Mol Genet Genomic Med. 2024 Jun; 12(6): e2481. Published online 2024 Jun 13. doi: 10.1002/mgg3.2481

PMCID:: PMC11169764

Abstract Article PDF–1.6M

Select item 111562065.

Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire

Bela Parekh, Jacque L. Duncan, Lassana Samarakoon, Michele Melia, Maria Fernanda Abalem, Chris A. Andrews, Isabelle Audo, Allison R. Ayala, Chris Bradley, Janet K. Cheetham, Gislin Dagnelie, Todd A. Durham, Rachel M. Huckfeldt, Gabrielle D. Lacy, Brett Malbin, Michel Michaelides, David C. Musch, Nicholas Peck-Dimit, Katarina Stingl, Christina Y. Weng, Alex Z. Zmejkoski, K. Thiran Jayasundera, for the Foundation Fighting Blindness Clinical Consortium Investigator Group

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 5. Published online 2024 Jun 4. doi: 10.1167/iovs.65.6.5

PMCID:: PMC11156206

Abstract Article PDF–929K

Select item 111396466.

Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome

Malena Daich Varela, Shiao Wei Wong, Gulunay Kiray, Patricio G. Schlottmann, Gavin Arno, Amjaad N. Abu Shams, Omar A. Mahroo, Andrew R. Webster, Alaa AlTalbishi, Michel Michaelides

Am J Ophthalmol. 2023 Dec; 256: 186–195. doi: 10.1016/j.ajo.2023.06.026

PMCID:: PMC11139646

Abstract Article PDF–1.4M

Select item 111059877.

Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology

Veronika Vaclavik, Aurelie Navarro, Alain Jacot-Guillarmod, Armand Bottani, Young Joo Sun, Joel A. Franco, Vinit B. Mahajan, Vasily Smirnov, Isabelle Bouvet-Drumare

Graefes Arch Clin Exp Ophthalmol. 2024; 262(6): 1737–1744. Published online 2024 Jan 11. doi: 10.1007/s00417-023-06345-1

PMCID:: PMC11105987

Abstract Article PDF–6.5M

Select item 110556968.

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente

Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9

PMCID:: PMC11055696

Abstract Article PDF–7.2M

Select item 110497329.

Joubert syndrome presenting bilateral peroneal neuropathies: A case report

Hyeong-Min Kim, Hyun-Seok Jo, Jae-Young Han, In-Sung Choi, Min-Keun Song, Hyeng-Kyu Park

Medicine (Baltimore) 2024 Apr 26; 103(17): e37987. Published online 2024 Apr 26. doi: 10.1097/MD.0000000000037987

PMCID:: PMC11049732

Abstract Article PDF–542K

Select item 1104691510.

Syndromic ciliopathy: a taiwanese single-center study

Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0

PMCID:: PMC11046915

Abstract Article PDF–1.6M

Select item 1103672811.

Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia

Aohan Hou, Xinyu Liu, Limei Sun, Xiaoyan Ding

BMC Ophthalmol. 2024; 24: 186. Published online 2024 Apr 23. doi: 10.1186/s12886-024-03456-z

PMCID:: PMC11036728

Abstract Article PDF–1.4M

Select item 1100506712.

In Vivo Assessment of Retinal Phenotypes in Axenfeld–Rieger Syndrome

Ana Untaroiu, Linda M. Reis, Brian P. Higgins, Ashleigh Walesa, Serena Zacharias, Danica Nikezic, Deborah M. Costakos, Joseph Carroll, Elena V. Semina

Invest Ophthalmol Vis Sci. 2024 Apr; 65(4): 20. Published online 2024 Apr 8. doi: 10.1167/iovs.65.4.20

PMCID:: PMC11005067

Abstract Article PDF–3.2M

Select item 1099343713.

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

Tulin Aras Ogreden, Gürkan Erdoğan

BMC Ophthalmol. 2024; 24: 149. Published online 2024 Apr 4. doi: 10.1186/s12886-024-03418-5

PMCID:: PMC10993437

Abstract Article PDF–1.1M

Select item 1098434614.

Expression of two major isoforms of MYO7A in the retina: considerations for gene therapy of Usher syndrome type 1B

W. Blake Gilmore, Nan W. Hultgren, Abhishek Chadha, Sonia B. Barocio, Joyce Zhang, Oksana Kutsyr, Miguel Flores-Bellver, M. Valeria Canto-Soler, David S. Williams

Vision Res. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Vision Res. 2023 Nov; 212: 108311. Published online 2023 Aug 15. doi: 10.1016/j.visres.2023.108311

PMCID:: PMC10984346

Abstract Article PDF–624K

Select item 1094777215.

Identification of HSPA8 as an interacting partner of MAB21L2 and an important factor in eye development

Sarah E. Seese, Sanaa Muheisen, Natalie Gath, Jeffrey M. Gross, Elena V. Semina

Dev Dyn. Author manuscript; available in PMC 2024 Mar 18.

Published in final edited form as: Dev Dyn. 2023 Apr; 252(4): 510–526. Published online 2023 Jan 6. doi: 10.1002/dvdy.560

PMCID:: PMC10947772

Abstract Article PDF–1.1M

Select item 1094294116.

Ocular manifestations of renal ciliopathies

Omar Salehi, Heather Mack, Deb Colville, Debbie Lewis, Judy Savige

Pediatr Nephrol. 2024; 39(5): 1327–1346. Published online 2023 Aug 30. doi: 10.1007/s00467-023-06096-5

PMCID:: PMC10942941

Abstract Article PDF–1.4M

Select item 1092624817.

Доклиническая диагностика синдрома фон Хиппеля-Линдау у ребенка грудного возраста

Малиевский О. А., Малиевская Р. И., Малиевский В. А., Тюльпаков А. Н.

Probl Endokrinol (Mosk) 2024; 70(1): 100–104. Russian. Published online 2024 Feb 28. doi: 10.14341/probl13280

PMCID:: PMC10926248

Abstract Article PDF–122K

Select item 1091310918.

High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

Gjorgji Bozhinovski, Marija Terzikj, Katerina Kubelka-Sabit, Dijana Plaseska-Karanfilska

Balkan Med J. 2024 Mar; 41(2): 97–104. Published online 2024 Mar 1. doi: 10.4274/balkanmedj.galenos.2024.2023-10-72

PMCID:: PMC10913109

Abstract Article PDF–871K

Select item 1090645519.

Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations

Anna M. Clark, Dongmei Yu, Grace Neiswanger, Daniel Zhu, Junhuang Zou, J. Alan Maschek, Thomas Burgoyne, Jun Yang

JCI Insight. 2024 Jan 9; 9(1): e162621. Published online 2024 Jan 9. doi: 10.1172/jci.insight.162621

PMCID:: PMC10906455

Abstract Article PDF–6.6M

Select item 1087635620.

Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report: Síndrome de microcefalia-coriorretinopatia, forma autossômica recessiva. Um relato de caso

Rafael Fabiano Machado Rosa, Flávia Enk, Korine Camargo, Giovanni Marco Travi, André Freitas, Rosana Cardoso Manique Rosa, Carla Graziadio, Vinicius Freitas de Mattos, Paulo Ricardo Gazzola Zen

Sao Paulo Med J. 2015; 133(4): 377–380. Published online 2014 Oct 17. doi: 10.1590/1516-3180.2013.7930003

PMCID:: PMC10876356

Abstract Article PDF–1.1M

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Mus musculus euchromatic histone methyltransferase 1, mRNA (cDNA clone IMAGE:532...
Mus musculus euchromatic histone methyltransferase 1, mRNA (cDNA clone IMAGE:5321355), with apparent retained intron
gi|23272254|gb|BC023904.1|

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