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Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene.
Ali E, Ferraro RM, Guglielmi A, Lanzi G, Masneri S, Piovani G, Mazzoldi EL, Pollara L, Valente EM, Accorsi P, Giordano L, Giliani SC. Ali E, et al. Among authors: accorsi p. Stem Cell Res. 2021 Jul;54:102430. doi: 10.1016/j.scr.2021.102430. Epub 2021 Jun 16. Stem Cell Res. 2021. PMID: 34182252 Free 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.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM. Romani M, et al. Among authors: accorsi p. Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19. Hum Genet. 2015. PMID: 25407461 Free PMC article.
Crisponi syndrome: report of a further patient.
Accorsi P, Giordano L, Faravelli F. Accorsi P, et al. Am J Med Genet A. 2003 Dec 1;123A(2):183-5. doi: 10.1002/ajmg.a.20292. Am J Med Genet A. 2003. PMID: 14598344
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Among authors: accorsi p. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Brunetti S, Malerba L, Giordano L, Parrini E, Guerrini R, Palumbo G, Parazzini C, Bestetti I, Accorsi P. Brunetti S, et al. Among authors: accorsi p. Am J Med Genet A. 2021 Aug;185(8):2526-2531. doi: 10.1002/ajmg.a.62345. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008900
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.
Setleis syndrome: genetic and clinical findings in a new case with epilepsy.
Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F. Giordano L, et al. Among authors: accorsi p. Pediatr Neurol. 2014 Apr;50(4):389-91. doi: 10.1016/j.pediatrneurol.2013.12.009. Epub 2013 Dec 14. Pediatr Neurol. 2014. PMID: 24486222
212 results