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Page 1
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A. Grillo E, et al. Among authors: pini g. Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13. Hum Mutat. 2012. PMID: 22415763 Free article.
Epilepsy in Rett syndrome--lessons from the Rett networked database.
Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B. Nissenkorn A, et al. Among authors: pini g. Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19. Epilepsia. 2015. PMID: 25789914 Free article.
Analysis of the Phenotypes in the Rett Networked Database.
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A. Frullanti E, et al. Among authors: pini g. Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019. Int J Genomics. 2019. PMID: 31049350 Free PMC article.
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group. Pini G, et al. Neuropediatrics. 2012 Feb;43(1):37-43. doi: 10.1055/s-0032-1308856. Epub 2012 Mar 19. Neuropediatrics. 2012. PMID: 22430159
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
Vacca M, Filippini F, Budillon A, Rossi V, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, MacDonald F, Kerr A, Dhanjal S, Hultén M. Vacca M, et al. Among authors: pini g. J Mol Med (Berl). 2001;78(11):648-55. doi: 10.1007/s001090000155. J Mol Med (Berl). 2001. PMID: 11269512
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region.
Vacca M, Filippini F, Budillon A, Rossi V, Della Ragione F, De Bonis ML, Mercadante G, Manzati E, Gualandi F, Bigoni S, Trabanelli C, Pini G, Calzolari E, Ferlini A, Meloni I, Hayek G, Zappella M, Renieri A, D'Urso M, D'Esposito M, Macdonald F, Kerr A, Dhanjal S, Hulten M. Vacca M, et al. Among authors: pini g. Brain Dev. 2001 Dec;23 Suppl 1:S246-50. doi: 10.1016/s0387-7604(01)00343-6. Brain Dev. 2001. PMID: 11738884
Thyroid function in Rett syndrome.
Stagi S, Cavalli L, Congiu L, Scusa MF, Ferlini A, Bigoni S, Benincasa A, Rossi B, Pini G. Stagi S, et al. Among authors: pini g. Horm Res Paediatr. 2015;83(2):118-25. doi: 10.1159/000370066. Epub 2015 Jan 21. Horm Res Paediatr. 2015. PMID: 25614013 Clinical Trial.
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Halbach N, Smeets EE, Julu P, Witt-Engerström I, Pini G, Bigoni S, Hansen S, Apartopoulos F, Delamont R, van Roozendaal K, Scusa MF, Borelli P, Candel M, Curfs L. Halbach N, et al. Among authors: pini g. Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29. Am J Med Genet A. 2016. PMID: 27354166 Free PMC article.
150 results