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A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: franks al. Hum Mol Genet. 2018 Feb 15;27(4):691-705. doi: 10.1093/hmg/ddx435. Hum Mol Genet. 2018. PMID: 29300972 Free PMC article.
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C; C4RCD Research Group; LeDoux MS. Toro C, et al. Among authors: franks al. Hum Mol Genet. 2018 Apr 1;27(7):1310. doi: 10.1093/hmg/ddy049. Hum Mol Genet. 2018. PMID: 29447355 Free PMC article. No abstract available.
Personalized pediatric ophthalmology: a case report.
To LK, Shah PR, Scanga HL, Franks AL, Cladis FP, Nischal KK. To LK, et al. Among authors: franks al. J AAPOS. 2019 Aug;23(4):234-236. doi: 10.1016/j.jaapos.2019.03.003. Epub 2019 May 23. J AAPOS. 2019. PMID: 31129100
Ciclesonide activates glucocorticoid signaling in neonatal rat lung but does not trigger adverse effects in the cortex and cerebellum.
Jaumotte JD, Franks AL, Bargerstock EM, Kisanga EP, Menden HL, Ghersi A, Omar M, Wang L, Rudine A, Short KL, Silswal N, Cole TJ, Sampath V, Monaghan-Nichols AP, DeFranco DB. Jaumotte JD, et al. Among authors: franks al. Neurobiol Dis. 2021 Aug;156:105422. doi: 10.1016/j.nbd.2021.105422. Epub 2021 Jun 11. Neurobiol Dis. 2021. PMID: 34126164 Free PMC article.
46 results