PubMed for id: 481743

Year	Number of Results
2021	118
2022	277
2023	196

1

Severe Dry Eye Disease in Charcot-Marie-Tooth Disease: A Comprehensive Case Report.

Aldihan KA, AlRashedi MJ, Bin Helayel H, AlMutlak M, Hameed ST. Aldihan KA, et al. Am J Case Rep. 2023 Nov 15;24:e941094. doi: 10.12659/AJCR.941094. Am J Case Rep. 2023. PMID: 37964513 Free PMC article.

2

A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review.

Luo F, Lu M, Zhao L, Zhou P. Luo F, et al. Medicine (Baltimore). 2023 Nov 3;102(44):e34962. doi: 10.1097/MD.0000000000034962. Medicine (Baltimore). 2023. PMID: 37932997 Free PMC article. Review.

3

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family.

Lin ZB, Chen ZJ, Yang H, Ding XR, Li J, Pan AP, Sun HS, Yu AY, Chen SH. Lin ZB, et al. BMC Ophthalmol. 2023 Nov 7;23(1):446. doi: 10.1186/s12886-023-03189-5. BMC Ophthalmol. 2023. PMID: 37932670 Free PMC article.

4

Integrated analysis of murine cornea identifies JAK/STAT signaling pathway upregulated specifically in female Vitamin A Deficient mice.

Yu H, Wu J, Li K, Huang Y, Wu T, Wang L, Huang Y. Yu H, et al. Exp Eye Res. 2023 Dec;237:109714. doi: 10.1016/j.exer.2023.109714. Epub 2023 Nov 4. Exp Eye Res. 2023. PMID: 37931772

5

Novel pathogenic WHRN variant causing hearing loss in a moroccan family.

AitRaise I, Amalou G, Redouane S, Charoute H, Snoussi K, Abdelghaffar H, Bonnet C, Petit C, Barakat A. AitRaise I, et al. Mol Biol Rep. 2023 Dec;50(12):10663-10669. doi: 10.1007/s11033-023-08901-8. Epub 2023 Nov 4. Mol Biol Rep. 2023. PMID: 37924449

6

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.

Kozina AA, Kanaeva GK, Baryshnikova NV, Ilinskaya AY, Kim AA, Erofeeva AV, Pogodina NA, Gadzhiyeva JP, Surkova EI, Ilinsky VV. Kozina AA, et al. J Int Med Res. 2023 Oct;51(10):3000605231206294. doi: 10.1177/03000605231206294. J Int Med Res. 2023. PMID: 37910852 Free PMC article.

7

Case series: Downbeat nystagmus in SCA27B.

Shirai S, Mizushima K, Fujiwara K, Koshimizu E, Matsushima M, Miyatake S, Iwata I, Yaguchi H, Matsumoto N, Yabe I. Shirai S, et al. J Neurol Sci. 2023 Nov 15;454:120849. doi: 10.1016/j.jns.2023.120849. Epub 2023 Oct 27. J Neurol Sci. 2023. PMID: 37907039

8

TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES.

Bello NR, Pisuchpen P, de Guimarães TAC, Capasso JE, Levin AV. Bello NR, et al. Retin Cases Brief Rep. 2023 Nov 1;17(6):714-718. doi: 10.1097/ICB.0000000000001269. Retin Cases Brief Rep. 2023. PMID: 37903307

9

Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.

Reis LM, Amor DJ, Haddad RA, Nowak CB, Keppler-Noreuil KM, Chisholm SA, Semina EV. Reis LM, et al. Genes (Basel). 2023 Oct 17;14(10):1948. doi: 10.3390/genes14101948. Genes (Basel). 2023. PMID: 37895297 Free PMC article.

10

Transcriptome Profiling of Etridiazole-Exposed Zebrafish (Danio rerio) Embryos Reveals Pathways Associated with Cardiac and Ocular Toxicities.

Vasamsetti BMK, Chon K, Yoon CY, Kim J, Choi JY, Hwang S, Park KH. Vasamsetti BMK, et al. Int J Mol Sci. 2023 Oct 11;24(20):15067. doi: 10.3390/ijms242015067. Int J Mol Sci. 2023. PMID: 37894748 Free PMC article.

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