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Items: 1 to 20 of 343

1.
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, Igor Kozak
Genes (Basel) 2021 Feb; 12(2): 171. Published online 2021 Jan 27. doi: 10.3390/genes12020171
PMCID:
PMC7911795
AbstractArticlePDF–3.2M
2.
A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family
Ajoy Vincent, Tom Wright, Megan A. Day, Carol A. Westall, Elise Héon
Mol Vis. 2011; 17: 3262–3270. Published online 2011 Dec 15.
PMCID:
PMC3244487
AbstractArticlePDF–880K
3.
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.
D A Pillers, J A Towbin, J S Chamberlain, D Wu, J Ranier, B R Powell, E R McCabe
Am J Hum Genet. 1990 Nov; 47(5): 795–801.
PMCID:
PMC1683699
SummaryPage BrowsePDF–1.4M
4.
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.
T Alitalo, T A Kruse, H Forsius, A W Eriksson, A de la Chapelle
Am J Hum Genet. 1991 Jan; 48(1): 31–38.
PMCID:
PMC1682761
SummaryPage BrowsePDF–1009K
5.
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
I A Glass, P Good, M P Coleman, P Fullwood, M G Giles, S Lindsay, A H Nemeth, K E Davies, H A Willshaw, A Fielder, et al.
J Med Genet. 1993 Dec; 30(12): 1044–1050. doi: 10.1136/jmg.30.12.1044
PMCID:
PMC1016646
SummaryPage BrowsePDF–1.1M
6.
Aland island eye disease: clinical and electrophysiological studies of a Welsh family.
N R Hawksworth, S Headland, P Good, N S Thomas, A Clarke
Br J Ophthalmol. 1995 May; 79(5): 424–430. doi: 10.1136/bjo.79.5.424
PMCID:
PMC505128
SummaryPage BrowsePDF–1.0M
7.
Artificial Intelligence in Education (AIEd): a high-level academic and industry note 2021
Muhammad Ali Chaudhry, Emre Kazim
AI Ethics. 2022; 2(1): 157–165. Published online 2021 Jul 7. doi: 10.1007/s43681-021-00074-z
PMCID:
PMC8261391
AbstractArticlePDF–613K
8.
Autoimmune inner ear disease (AIED): A diagnostic challenge
Andrea Ciorba, Virginia Corazzi, Chiara Bianchini, Claudia Aimoni, Stefano Pelucchi, Piotr Henryk Skarżyński, Stavros Hatzopoulos
Int J Immunopathol Pharmacol. 2018 Mar-Dec; 32: 2058738418808680. Published online 2018 Oct 31. doi: 10.1177/2058738418808680
PMCID:
PMC6213300
AbstractArticlePDF–377K
9.
Alternate Splicing of Interleukin-1 Receptor Type II (IL1R2) In Vitro Correlates with Clinical Glucocorticoid Responsiveness in Patients with AIED
Andrea Vambutas, James DeVoti, Elliot Goldofsky, Michael Gordon, Martin Lesser, Vincent Bonagura
PLoS One. 2009; 4(4): e5293. Published online 2009 Apr 29. doi: 10.1371/journal.pone.0005293
PMCID:
PMC2670509
AbstractArticlePDF–330K
10.
Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
H Jensen, M Warburg, O Sjö, M Schwartz
J Med Genet. 1995 May; 32(5): 348–351. doi: 10.1136/jmg.32.5.348
PMCID:
PMC1050428
SummaryPage BrowsePDF–617K
11.
Repurposable Drugs That Interact with Steroid Responsive Gene Targets for Inner Ear Disease
Alexander A. Missner, James Dixon Johns, Shoujun Gu, Michael Hoa
Biomolecules. 2022 Nov; 12(11): 1641. Published online 2022 Nov 5. doi: 10.3390/biom12111641
PMCID:
PMC9687275
AbstractArticlePDF–1.0M
12.
miR-10b-3p, miR-8112 and let-7j as potential biomarkers for autoimmune inner ear diseases
Juhong Zhang, Na Wang, Anting Xu
Mol Med Rep. 2019 Jul; 20(1): 171–181. Published online 2019 May 16. doi: 10.3892/mmr.2019.10248
PMCID:
PMC6579970
AbstractArticlePDF–967K
13.
Innate immune recognition of molds and homology to the inner ear protein, cochlin, in patients with autoimmune inner ear disease
Shresh Pathak, Lynda J. Hatam, Vincent Bonagura, Andrea Vambutas
J Clin Immunol. Author manuscript; available in PMC 2014 Oct 1.
Published in final edited form as: J Clin Immunol. 2013 Oct; 33(7): 10.1007/s10875-013-9926-x. Published online 2013 Aug 3. doi: 10.1007/s10875-013-9926-x
PMCID:
PMC3809107
AbstractArticlePDF–2.1M
14.
IL-1 receptor 2 (IL-1R2) and its role in immune regulation
Vanessa A. Peters, Jennifer J. Joesting, Gregory G. Freund
Brain Behav Immun. Author manuscript; available in PMC 2014 Aug 1.
Published in final edited form as: Brain Behav Immun. 2013 Aug; 32: 1–8. Published online 2012 Nov 27. doi: 10.1016/j.bbi.2012.11.006
PMCID:
PMC3610842
AbstractArticlePDF–417K
15.
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2
Stylianos Michalakis, Lior Shaltiel, Vithiyanjali Sothilingam, Susanne Koch, Verena Schludi, Stefanie Krause, Christina Zeitz, Isabelle Audo, Marie-Elise Lancelot, Christian Hamel, Isabelle Meunier, Markus N. Preising, Christoph Friedburg, Birgit Lorenz, Nawal Zabouri, Silke Haverkamp, Marina Garcia Garrido, Naoyuki Tanimoto, Mathias W. Seeliger, Martin Biel, Christian A. Wahl-Schott
Hum Mol Genet. 2014 Mar 15; 23(6): 1538–1550. Published online 2013 Oct 26. doi: 10.1093/hmg/ddt541
Correction in:
Hum Mol Genet. 2017 Jan 15; 26(2): 466.
PMCID:
PMC3929091
AbstractArticlePDF–2.3M
16.
Etiologic distribution of dizziness/vertigo in a neurological outpatient clinic according to the criteria of the international classification of vestibular disorders: a single-center study
Yue Xing, Lihong Si, Wanting Zhang, Yuru Wang, Kangzhi Li, Xu Yang
J Neurol. 2024; 271(5): 2446–2457. Published online 2024 Jan 17. doi: 10.1007/s00415-023-12166-3
PMCID:
PMC11055744
AbstractArticlePDF–987K
17.
Cochlear Implantation and Perioperative Management in Autoimmune Inner Ear Disease: A Systematic Review and Meta-Analysis
Nikita Deshpande, Nathan Aminpour, Hui Cheng, J. Dixon Johns, Michael Hoa
Otol Neurotol Open. 2021 Dec; 1(2): e006. Published online 2021 Dec 9. doi: 10.1097/ONO.0000000000000006
PMCID:
PMC10969513
AbstractArticlePDF–762K
18.
Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy—A Case Report
Dorota Wyględowska-Promieńska, Marta Świerczyńska, Dorota Śpiewak, Dorota Pojda-Wilczek, Agnieszka Tronina, Mariola Dorecka, Adrian Smędowski
Int J Mol Sci. 2024 Mar; 25(5): 2928. Published online 2024 Mar 2. doi: 10.3390/ijms25052928
PMCID:
PMC10931673
AbstractArticlePDF–1.8M
19.
Social classification and the changing boundaries of learning. A neopragmatic perspective on social sorting in digital education
Kenneth Horvath, Mario Steinberg
Learn Media Technol. 2023; 48(4): 566–580. Published online 2023 Jun 5. doi: 10.1080/17439884.2023.2219900
PMCID:
PMC10591598
AbstractArticlePDF–1.2M
20.
Proactive and reactive engagement of artificial intelligence methods for education: a review
Sruti Mallik, Ahana Gangopadhyay
Front Artif Intell. 2023; 6: 1151391. Published online 2023 May 5. doi: 10.3389/frai.2023.1151391
PMCID:
PMC10196470
AbstractArticlePDF–1.0M

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