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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Schneeberger PE, et al. Among authors: ajmone pf. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. Brain. 2020. PMID: 32761064 Free PMC article.
Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.
Silibello G, Vizziello P, Gallucci M, Selicorni A, Milani D, Ajmone PF, Rigamonti C, De Stefano S, Bedeschi MF, Lalatta F. Silibello G, et al. Among authors: ajmone pf. Ital J Pediatr. 2016 Aug 31;42(1):76. doi: 10.1186/s13052-016-0285-0. Ital J Pediatr. 2016. PMID: 27576488 Free PMC article.
Electroclinical phenotype in Rubinstein-Taybi syndrome.
Giacobbe A, Ajmone PF, Milani D, Avignone S, Triulzi F, Gervasini C, Menni F, Monti F, Biffi D, Canavesi K, Costantino MA. Giacobbe A, et al. Among authors: ajmone pf. Brain Dev. 2016 Jun;38(6):563-70. doi: 10.1016/j.braindev.2015.12.003. Epub 2016 Feb 8. Brain Dev. 2016. PMID: 26867510
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Fontana L, Bedeschi MF, Cagnoli GA, Costanza J, Persico N, Gangi S, Porro M, Ajmone PF, Colapietro P, Santaniello C, Crippa M, Sirchia SM, Miozzo M, Tabano S. Fontana L, et al. Among authors: ajmone pf. Mol Genet Genomic Med. 2020 Sep;8(9):e1386. doi: 10.1002/mgg3.1386. Epub 2020 Jul 6. Mol Genet Genomic Med. 2020. PMID: 32627967 Free PMC article.
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.
Villa R, Fergnani VGC, Silipigni R, Guerneri S, Cinnante C, Guala A, Danesino C, Scola E, Conte G, Fumagalli M, Gangi S, Colombo L, Picciolini O, Ajmone PF, Accogli A, Madia F, Tassano E, Scala M, Capra V, Srour M, Spaccini L, Righini A, Greco D, Castiglia L, Romano C, Bedeschi MF. Villa R, et al. Among authors: ajmone pf. Eur J Paediatr Neurol. 2020 Sep;28:110-119. doi: 10.1016/j.ejpn.2020.07.002. Epub 2020 Jul 28. Eur J Paediatr Neurol. 2020. PMID: 32800423 Free article.
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome.
Grazioli P, Parodi C, Mariani M, Bottai D, Di Fede E, Zulueta A, Avagliano L, Cereda A, Tenconi R, Wierzba J, Adami R, Iascone M, Ajmone PF, Vaccari T, Gervasini C, Selicorni A, Massa V. Grazioli P, et al. Among authors: ajmone pf. Cell Death Discov. 2021 Feb 17;7(1):34. doi: 10.1038/s41420-021-00414-2. Cell Death Discov. 2021. PMID: 33597506 Free PMC article.
36 results