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844 results

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Page 1
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.
Garone G, Innocenti A, Grasso M, Mandarino A, Capuano A, Della Bella G, Frascarelli F, Diodato D, Onesimo R, Zampino G, Novelli A, Digilio MC, Bartuli A, Dentici ML, Parisi P, Galosi S, Tonduti D, Bertini E, Sinibaldi L, Specchio N. Garone G, et al. Among authors: novelli a. Parkinsonism Relat Disord. 2024 Sep;126:107057. doi: 10.1016/j.parkreldis.2024.107057. Epub 2024 Jul 9. Parkinsonism Relat Disord. 2024. PMID: 39067319
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Bensaid S, Bendahmane M, Loddo S, Poke G, Januel L, Nicolle R, Malan V, Chatron N, Ottombrino S, Dentici ML, Novelli A, Digilio MC, Sanlaville D. Bensaid S, et al. Among authors: novelli a. Am J Med Genet A. 2024 Jul;194(7):e63580. doi: 10.1002/ajmg.a.63580. Epub 2024 Mar 21. Am J Med Genet A. 2024. PMID: 38511524 Review.
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A. Alesi V, et al. Among authors: novelli a. Hum Genomics. 2024 Mar 22;18(1):29. doi: 10.1186/s40246-024-00600-0. Hum Genomics. 2024. PMID: 38520002 Free PMC article.
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.
De Dominicis A, Stregapede F, Colona VL, Nicita F, Sartorelli J, Sparascio FP, Terracciano A, Novelli A, Specchio N, Bertini ES, Trivisano M. De Dominicis A, et al. Among authors: novelli a. Seizure. 2024 Oct;121:141-146. doi: 10.1016/j.seizure.2024.08.012. Epub 2024 Aug 17. Seizure. 2024. PMID: 39178560
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: novelli a. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Vecchio D, Panfili FM, Macchiaiolo M, Dentici ML, Trivisano M, Medina CB, Capolino R, Salzano E, Cortellessa F, Busè M, Pantaleo A, Cocciadiferro D, Gonfiantini MV, Niceta M, De Dominicis A, Specchio N, Piccione M, Digilio MC, Tartaglia M, Novelli A, Bartuli A. Vecchio D, et al. Among authors: novelli a. Eur J Med Genet. 2024 Dec 19;73:104990. doi: 10.1016/j.ejmg.2024.104990. Online ahead of print. Eur J Med Genet. 2024. PMID: 39709003 Free article.
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies.
Kalanithy JC, Mingardo E, Stegmann JD, Dhakar R, Dakal TC, Rosenfeld JA, Tan WH, Coury SA, Woerner AC, Sebastian J, Levy PA, Fleming LR, Waffenschmidt L, Lindenberg TT, Yilmaz Ö, Channab K, Babra BK, Christ A, Eiberger B, Hölzel S, Vidic C, Häberlein F, Ishorst N, Rodriguez-Gatica JE, Pezeshkpoor B, Kupczyk PA, Vanakker OM, Loddo S, Novelli A, Dentici ML, Becker A, Thiele H, Posey JE, Lupski JR, Hilger AC, Reutter HM, Merz WM, Dworschak GC, Odermatt B. Kalanithy JC, et al. Among authors: novelli a. J Med Genet. 2024 Dec 23:jmg-2023-109799. doi: 10.1136/jmg-2023-109799. Online ahead of print. J Med Genet. 2024. PMID: 39715634 Free article.
844 results