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Page 1
Cerebellar cleft: confirmation of the neuroimaging pattern.
Poretti A, Huisman TA, Cowan FM, Del Giudice E, Jeannet PY, Prayer D, Rutherford MA, du Plessis AJ, Limperopoulos C, Boltshauser E. Poretti A, et al. Among authors: del giudice e. Neuropediatrics. 2009 Oct;40(5):228-33. doi: 10.1055/s-0030-1248265. Epub 2010 Mar 10. Neuropediatrics. 2009. PMID: 20221959
Unexplained bilateral occipital calcification and reduced vision.
Del Giudice E, Pelosi L, Romano A, De Bellis P, Licenziati MR, Pastore I, Andria G, Boltshauser E, Pinto LC. Del Giudice E, et al. Neuropediatrics. 1984 Oct;15(4):218-9. doi: 10.1055/s-2008-1052371. Neuropediatrics. 1984. PMID: 6436726
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.
Cerebellar agenesis.
Titomanlio L, Romano A, Del Giudice E. Titomanlio L, et al. Among authors: del giudice e. Neurology. 2005 Mar 22;64(6):E21. doi: 10.1212/wnl.64.6.e21. Neurology. 2005. PMID: 15781801 No abstract available.
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. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
334 results