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Select item 34321341.

Effect of Ambient Temperature on the Thermoregulatory and Locomotor Stimulant Effects of 4-Methylmethcathinone in Wistar and Sprague-Dawley Rats

M. Jerry Wright, Jr, Deepshikha Angrish, Shawn M. Aarde, Deborah J. Barlow, Matthew W. Buczynski, Kevin M. Creehan, Sophia A. Vandewater, Loren H. Parsons, Karen L. Houseknecht, Tobin J. Dickerson, Michael A. Taffe

PLoS One. 2012; 7(8): e44652. Published online 2012 Aug 31. doi: 10.1371/journal.pone.0044652

PMCID:: PMC3432134

Article PDF–857K

Select item 109660042.

Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy

Riccardo Cheloni, Neil Clough, Daniel Jackson, Mariya Moosajee

Eye (Lond) 2024 Apr; 38(5): 853–862. Published online 2023 Oct 28. doi: 10.1038/s41433-023-02791-7

PMCID:: PMC10966004

Article PDF–7.5M

Select item 108763563.

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

Article PDF–1.1M

Select item 108384024.

Microphthalmia and orbital cysts in DiGeorge syndrome

Arthika Chandramohan, Connie Martin Sears, Laura C. Huang, Shannon Beres, Douglas Fredrick, Andrea Lora Kossler

J AAPOS. Author manuscript; available in PMC 2024 Feb 4.

Published in final edited form as: J AAPOS. 2021 Dec; 25(6): 358–360. Published online 2021 Sep 29. doi: 10.1016/j.jaapos.2021.06.001

PMCID:: PMC10838402

Article PDF–214K

Select item 107634505.

Long-term follow-up of torpedo maculopathy: a case series and mini-review

Richard C. Trevino, William H. Ridder, III, Anupam Laul, James Hill

BMC Ophthalmol. 2024; 24: 5. Published online 2024 Jan 3. doi: 10.1186/s12886-023-03254-z

PMCID:: PMC10763450

Article PDF–1.2M

Select item 106647216.

Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders

Tzu-Yi Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Yi-Chun Chi, Laura A. Jenny, Pei-Hsuan Lin, Chia-Ying Lee, Chun-Hsiu Liu, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Yih-Shiou Hwang, Wei-Chi Wu, Chi-Chun Lai, Meng-Chang Hsiao, Pei-Kang Liu, Nan-Kai Wang

Invest Ophthalmol Vis Sci. 2023 Nov; 64(14): 25. Published online 2023 Nov 17. doi: 10.1167/iovs.64.14.25

PMCID:: PMC10664721

Article PDF–2.6M

Select item 104763307.

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black

Orphanet J Rare Dis. 2023; 18: 265. Published online 2023 Sep 4. doi: 10.1186/s13023-023-02840-0

PMCID:: PMC10476330

Article PDF–1.4M

Select item 104540718.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett

Genes (Basel) 2023 Aug; 14(8): 1565. Published online 2023 Jul 31. doi: 10.3390/genes14081565

PMCID:: PMC10454071

Article PDF–3.1M

Select item 104474089.

Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations

Che-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen

J Med Genet. 2023 Sep; 60(9): 859–865. Published online 2023 Jan 23. doi: 10.1136/jmg-2022-108918

PMCID:: PMC10447408

Article PDF–1.2M

Select item 1015276710.

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Jun Sone, Shinji Ueno, Akio Akagi, Hiroaki Miyahara, Chisato Tamai, Yuichi Riku, Hiroyuki Yabata, Ryuichi Koizumi, Tomohiro Hattori, Hiroshi Hirose, Yoshito Koyanagi, Rei Kobayashi, Hisashi Okada, Yoshiyuki Kishimoto, Yoshio Hashizume, Gen Sobue, Mari Yoshida, Yasushi Iwasaki

Acta Neuropathol Commun. 2023; 11: 71. Published online 2023 May 2. doi: 10.1186/s40478-023-01564-3

PMCID:: PMC10152767

Article PDF–2.3M

Select item 1008657911.

Liver‐directed gene therapy for ornithine aminotransferase deficiency

Iolanda Boffa, Elena Polishchuk, Lucia De Stefano, Fabio Dell'Aquila, Edoardo Nusco, Elena Marrocco, Matteo Audano, Silvia Pedretti, Marianna Caterino, Ilaria Bellezza, Margherita Ruoppolo, Nico Mitro, Barbara Cellini, Alberto Auricchio, Nicola Brunetti‐Pierri

EMBO Mol Med. 2023 Apr; 15(4): e17033. Published online 2023 Jan 17. doi: 10.15252/emmm.202217033

PMCID:: PMC10086579

Article PDF–3.6M

Select item 965159912.

Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence

Masha Kolesnikova, Jose Ronaldo Lima de Carvalho, Jr., Rait Parmann, Angela H. Kim, Vinit B. Mahajan, Stephen H. Tsang, Janet R. Sparrow

Mol Genet Genomic Med. 2022 Nov; 10(11): e2038. Published online 2022 Oct 12. doi: 10.1002/mgg3.2038

PMCID:: PMC9651599

Article PDF–1.4M

Select item 946121913.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro

Ital J Pediatr. 2022; 48: 170. Published online 2022 Sep 8. doi: 10.1186/s13052-022-01365-9

PMCID:: PMC9461219

Article PDF–910K

Select item 939290714.

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

Alessandra Consales, Beatrice Letizia Crippa, Lorenzo Colombo, Roberta Villa, Francesca Menni, Claudia Giavoli, Fabio Mosca, Maria Francesca Bedeschi

Ital J Pediatr. 2022; 48: 154. Published online 2022 Aug 20. doi: 10.1186/s13052-022-01341-3

PMCID:: PMC9392907

Article PDF–791K

Select item 921217015.

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1^rd8 mouse model

Sonia M. Weatherly, Gayle B. Collin, Jeremy R. Charette, Lisa Stone, Nattaya Damkham, Lillian F. Hyde, James G. Peterson, Wanda Hicks, Gregory W. Carter, Jürgen K. Naggert, Mark P. Krebs, Patsy M. Nishina

PLoS Genet. 2022 Jun; 18(6): e1009798. Published online 2022 Jun 8. doi: 10.1371/journal.pgen.1009798

PMCID:: PMC9212170

Article PDF–6.4M

Select item 917753116.

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

Andrew J. Catomeris, Brian G. Ballios, Riccardo Sangermano, Naomi E. Wagner, Jason I. Comander, Eric A. Pierce, Emily M. Place, Kinga M. Bujakowska, Rachel M. Huckfeldt

Ophthalmic Genet. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Ophthalmic Genet. 2022 Jun; 43(3): 332–339. Published online 2022 Jan 20. doi: 10.1080/13816810.2021.2023196

PMCID:: PMC9177531

Article PDF–2.2M

Select item 911941717.

A mutation in CRX causing pigmented paravenous retinochoroidal atrophy

Jin Kyun Oh, Yan Nuzbrokh, Winston Lee, Jose Ronaldo Lima de Carvalho, Jr, Nan Kai Wong, Janet Sparrow, Rando Allikmets, Stephen H Tsang

Eur J Ophthalmol. Author manuscript; available in PMC 2022 May 19.

Published in final edited form as: Eur J Ophthalmol. 2022 Jan; 32(1): NP235–NP239. Published online 2020 Sep 14. doi: 10.1177/1120672120957599

PMCID:: PMC9119417

Article PDF–1.1M

Select item 910931218.

Atypical chorioretinal lesions in Siberian Husky dogs with primary angle-closure glaucoma: a case series

Shin Ae Park, Dodd Sledge, Colleen F. Monahan, Leandro Teixeira, Ryan Boyd, Katie Freeman, Kristin Koehl, Christine Harman, Kirk Munoz, Laurence M. Occelli, Chris G. Pirie, Harriet Davidson, Simon Petersen-Jones, András M. Komáromy

BMC Vet Res. 2022; 18: 182. Published online 2022 May 16. doi: 10.1186/s12917-022-03259-8