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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: saletti v. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Legius Syndrome: two novel mutations in the SPRED1 gene.
Bianchi M, Saletti V, Micheli R, Esposito S, Molinaro A, Gagliardi S, Orcesi S, Cereda C. Bianchi M, et al. Among authors: saletti v. Hum Genome Var. 2015 Dec 3;2:15051. doi: 10.1038/hgv.2015.51. eCollection 2015. Hum Genome Var. 2015. PMID: 27081556 Free PMC article.
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group; Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.
Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.
Ciaccio C, Saletti V, D'Arrigo S, Esposito S, Alfei E, Moroni I, Tonduti D, Chiapparini L, Pantaleoni C, Milani D. Ciaccio C, et al. Among authors: saletti v. Eur J Med Genet. 2019 Dec;62(12):103596. doi: 10.1016/j.ejmg.2018.12.001. Epub 2018 Dec 4. Eur J Med Genet. 2019. PMID: 30528446
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C. Garau J, et al. Among authors: saletti v. J Clin Med. 2019 May 26;8(5):750. doi: 10.3390/jcm8050750. J Clin Med. 2019. PMID: 31130681 Free PMC article.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: saletti v. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday C, Tatton-Brown K, Clarke M, Westwood I, Renwick A, Ramsay E, Nemeth A, Campbell J, Joss S, Gardner M, Zachariou A, Elliott A, Ruark E, van Montfort R; Childhood Overgrowth Collaboration; Rahman N. Loveday C, et al. Hum Mol Genet. 2015 Sep 1;24(17):4775-9. doi: 10.1093/hmg/ddv182. Epub 2015 May 13. Hum Mol Genet. 2015. PMID: 25972378 Free PMC article.
77 results