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Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F. Fernández-Martínez L, et al. Eur J Hum Genet. 2011 Apr;19(4):445-51. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224891 Free PMC article.
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Pasutto F, et al. Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273977 Free PMC article.
TDP1 mutation causing SCAN1 neurodegenerative syndrome hampers the repair of transcriptional DNA double-strand breaks.
Geraud M, Cristini A, Salimbeni S, Bery N, Jouffret V, Russo M, Ajello AC, Fernandez Martinez L, Marinello J, Cordelier P, Trouche D, Favre G, Nicolas E, Capranico G, Sordet O. Geraud M, et al. Among authors: fernandez martinez l. Cell Rep. 2024 May 16;43(5):114214. doi: 10.1016/j.celrep.2024.114214. Online ahead of print. Cell Rep. 2024. PMID: 38761375 Free article.
Microbial Primer: Bacterial growth kinetics.
Fernández-Martínez LT, Javelle A, Hoskisson PA. Fernández-Martínez LT, et al. Microbiology (Reading). 2024 Feb;170(2):001428. doi: 10.1099/mic.0.001428. Microbiology (Reading). 2024. PMID: 38329407 Free PMC article.
ActinoBase: tools and protocols for researchers working on Streptomyces and other filamentous actinobacteria.
Feeney MA, Newitt JT, Addington E, Algora-Gallardo L, Allan C, Balis L, Birke AS, Castaño-Espriu L, Charkoudian LK, Devine R, Gayrard D, Hamilton J, Hennrich O, Hoskisson PA, Keith-Baker M, Klein JG, Kruasuwan W, Mark DR, Mast Y, McHugh RE, McLean TC, Mohit E, Munnoch JT, Murray J, Noble K, Otani H, Parra J, Pereira CF, Perry L, Pintor-Escobar L, Pritchard L, Prudence SMM, Russell AH, Schniete JK, Seipke RF, Sélem-Mojica N, Undabarrena A, Vind K, van Wezel GP, Wilkinson B, Worsley SF, Duncan KR, Fernández-Martínez LT, Hutchings MI. Feeney MA, et al. Among authors: fernandez martinez lt. Microb Genom. 2022 Jul;8(7):mgen000824. doi: 10.1099/mgen.0.000824. Microb Genom. 2022. PMID: 35775972 Free PMC article.
29 results