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Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: flori e. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Late onset stroke and myocardial infarction in Williams syndrome.
Blanc F, Wolff V, Talmant V, Attali P, Germain P, Flori E, Toutain A, Dollfus H, Tranchant C. Blanc F, et al. Among authors: flori e. Eur J Neurol. 2006 Dec;13(12):e3-4. doi: 10.1111/j.1468-1331.2006.01475.x. Eur J Neurol. 2006. PMID: 17116204 No abstract available.
Insulin and the sebaceous gland function.
Okoro OE, Camera E, Flori E, Ottaviani M. Okoro OE, et al. Among authors: flori e. Front Physiol. 2023 Sep 1;14:1252972. doi: 10.3389/fphys.2023.1252972. eCollection 2023. Front Physiol. 2023. PMID: 37727660 Free PMC article. Review.
116 results