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Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
Zhao Y, Wang LK, Eskin A, Kang X, Fajardo VM, Mehta Z, Pineles S, Schmidt RJ, Nagiel A, Satou G, Garg M, Federman M, Reardon LC, Lee SL, Biniwale R, Grody WW, Halnon N, Khanlou N, Quintero-Rivera F, Alejos JC, Nakano A, Fishbein GA, Van Arsdell GS, Nelson SF, Touma M. Zhao Y, et al. Among authors: khanlou n. J Mol Med (Berl). 2021 Nov;99(11):1623-1638. doi: 10.1007/s00109-021-02112-z. Epub 2021 Aug 13. J Mol Med (Berl). 2021. PMID: 34387706 Free PMC article.
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF. Wang RT, et al. Among authors: khanlou n. Hum Mutat. 2018 Sep;39(9):1193-1202. doi: 10.1002/humu.23561. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907980 Free PMC article.
Vertical asymmetric mitochondrial ophthalmoplegia.
Pineles SL, Lewis RA, Khanlou N, Velez FG. Pineles SL, et al. Among authors: khanlou n. Can J Ophthalmol. 2019 Oct;54(5):e230-e232. doi: 10.1016/j.jcjo.2019.01.008. Epub 2019 Apr 1. Can J Ophthalmol. 2019. PMID: 31564362 No abstract available.
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy.
Yang JO, Shaybekyan H, Zhao Y, Kang X, Fishbein GA, Khanlou N, Alejos JC, Halnon N, Satou G, Biniwale R, Lee H, Van Arsdell G, Nelson SF, Touma M; UCLA Clinical Genomics Center; UCLA Congenital Heart Defects-BioCore Faculty. Yang JO, et al. Among authors: khanlou n. Front Cardiovasc Med. 2022 Jan 6;8:798985. doi: 10.3389/fcvm.2021.798985. eCollection 2021. Front Cardiovasc Med. 2022. PMID: 35071363 Free PMC article.
101 results