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Page 1
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L. Ivanovski I, et al. Among authors: giordano l. Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300384 Free article.
Crisponi syndrome: report of a further patient.
Accorsi P, Giordano L, Faravelli F. Accorsi P, et al. Among authors: giordano l. 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
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Bentivegna A, et al. Among authors: giordano l. BMC Med Genet. 2006 Oct 19;7:77. doi: 10.1186/1471-2350-7-77. BMC Med Genet. 2006. PMID: 17052327 Free PMC article.
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. 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.
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.
Epilepsy in Rett syndrome: clinical and genetic features.
Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, Hayek Y, Buoni S, Renieri A, Russo S, Cogliati F, Giordano L, Canevini M, Veneselli E. Pintaudi M, et al. Among authors: giordano l. Epilepsy Behav. 2010 Nov;19(3):296-300. doi: 10.1016/j.yebeh.2010.06.051. Epub 2010 Aug 21. Epilepsy Behav. 2010. PMID: 20728410 Free article.
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L. Giardino D, et al. Among authors: giordano l. BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146. BMC Med Genet. 2010. PMID: 20939888 Free PMC article.
928 results