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Page 1
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Jouret G, Heide S, Sorlin A, Faivre L, Chantot-Bastaraud S, Beneteau C, Denis-Musquer M, Turnpenny PD, Coutton C, Vieville G, Thevenon J, Larson A, Petit F, Boudry E, Smol T, Delobel B, Duban-Bedu B, Fallerini C, Mari F, Lo Rizzo C, Renieri A, Caberg JH, Denommé-Pichon AS, Tran Mau-Them F, Maystadt I, Courtin T, Keren B, Mouthon L, Charles P, Cuinat S, Isidor B, Theis P, Müller C, Kulisic M, Türkmen S, Stieber D, Bourgeois D, Scalais E, Klink B. Jouret G, et al. Among authors: lo rizzo c. Clin Genet. 2022 Aug;102(2):117-122. doi: 10.1111/cge.14141. Epub 2022 Apr 25. Clin Genet. 2022. PMID: 35470444 Free article.
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A. Grillo E, et al. Among authors: lo rizzo c. PLoS One. 2013;8(2):e56599. doi: 10.1371/journal.pone.0056599. Epub 2013 Feb 28. PLoS One. 2013. PMID: 23468869 Free PMC article.
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: lo rizzo c. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Calcagno E, Lo Rizzo C, De Falco G, Ulivieri C, Ariani F, Mari F, Mencarelli MA, Hell JW, Renieri A, Meloni I. Livide G, et al. Among authors: lo rizzo c. Eur J Hum Genet. 2015 Feb;23(2):195-201. doi: 10.1038/ejhg.2014.81. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916645 Free PMC article.
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A. Mari F, et al. Among authors: lo rizzo c. Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22. Brain Dev. 2015. PMID: 25249037
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
Amitrano S, Marozza A, Somma S, Imperatore V, Hadjistilianou T, De Francesco S, Toti P, Galimberti D, Meloni I, Cetta F, Piu P, Di Marco C, Dosa L, Lo Rizzo C, Carignani G, Mencarelli MA, Mari F, Renieri A, Ariani F. Amitrano S, et al. Among authors: lo rizzo c. Eur J Hum Genet. 2015 Nov;23(11):1523-30. doi: 10.1038/ejhg.2015.6. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712084 Free PMC article.
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice.
Patriarchi T, Amabile S, Frullanti E, Landucci E, Lo Rizzo C, Ariani F, Costa M, Olimpico F, W Hell J, M Vaccarino F, Renieri A, Meloni I. Patriarchi T, et al. Among authors: lo rizzo c. Eur J Hum Genet. 2016 Jun;24(6):871-80. doi: 10.1038/ejhg.2015.216. Epub 2015 Oct 7. Eur J Hum Genet. 2016. PMID: 26443267 Free PMC article.
Visual impairment in FOXG1-mutated individuals and mice.
Boggio EM, Pancrazi L, Gennaro M, Lo Rizzo C, Mari F, Meloni I, Ariani F, Panighini A, Novelli E, Biagioni M, Strettoi E, Hayek J, Rufa A, Pizzorusso T, Renieri A, Costa M. Boggio EM, et al. Among authors: lo rizzo c. Neuroscience. 2016 Jun 2;324:496-508. doi: 10.1016/j.neuroscience.2016.03.027. Epub 2016 Mar 19. Neuroscience. 2016. PMID: 27001178 Free article.
32 results