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Page 1
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: del giudice e. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
Pinelli M, Terrone G, Troglio F, Squeo GM, Cappuccio G, Imperati F, Pignataro P, Genesio R, Nitch L, Del Giudice E, Merla G, Testa G, Brunetti-Pierri N. Pinelli M, et al. Among authors: del giudice e. Clin Genet. 2020 Jun;97(6):940-942. doi: 10.1111/cge.13753. Epub 2020 Apr 29. Clin Genet. 2020. PMID: 32349160 Free PMC article.
A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects.
Terrone G, Vitiello G, Genesio R, D'Amico A, Imperati F, Ugga L, Giugliano T, Piluso G, Nitsch L, Brunetti-Pierri N, Del Giudice E. Terrone G, et al. Among authors: del giudice e. Eur J Paediatr Neurol. 2017 Nov;21(6):902-906. doi: 10.1016/j.ejpn.2017.07.006. Epub 2017 Jul 20. Eur J Paediatr Neurol. 2017. PMID: 28754298
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.
Cappuccio G, Attanasio S, Alagia M, Mutarelli M, Borzone R, Karali M, Genesio R, Mormile A, Nitsch L, Imperati F, Esposito A, Banfi S, Del Giudice E, Brunetti-Pierri N. Cappuccio G, et al. Among authors: del giudice e. Eur J Hum Genet. 2019 Sep;27(9):1475-1480. doi: 10.1038/s41431-019-0430-5. Epub 2019 May 31. Eur J Hum Genet. 2019. PMID: 31152157 Free PMC article.
Expansion of the phenotype of lateral meningocele syndrome.
Cappuccio G, Apuzzo D, Alagia M, Torella A, Pinelli M, Franco B, Corrado B, Del Giudice E, D'Amico A, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: del giudice e. Am J Med Genet A. 2020 May;182(5):1259-1262. doi: 10.1002/ajmg.a.61536. Epub 2020 Mar 6. Am J Med Genet A. 2020. PMID: 32141180 Free PMC article.
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA. Tripathy R, et al. Among authors: del giudice e. Neuron. 2018 Dec 19;100(6):1354-1368.e5. doi: 10.1016/j.neuron.2018.10.044. Epub 2018 Nov 15. Neuron. 2018. PMID: 30449657 Free PMC article.
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: del giudice e. Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. Ann Neurol. 2017. PMID: 28972664 No abstract available.
330 results