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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: turolla l. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: turolla l. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
Three cases with de novo 6q imbalance and variable prenatal phenotype.
Grati FR, Lalatta F, Turolla L, Cavallari U, Gentilin B, Rossella F, Cetin I, Antonazzo P, Bellotti M, Dulcetti F, Baldo D, Tenconi R, Simoni G, Miozzo M. Grati FR, et al. Among authors: turolla l. Am J Med Genet A. 2005 Jul 30;136(3):254-8. doi: 10.1002/ajmg.a.30837. Am J Med Genet A. 2005. PMID: 15957159
Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.
Grati FR, Turolla L, D'Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G. Grati FR, et al. Among authors: turolla l. J Med Genet. 2007 Apr;44(4):257-63. doi: 10.1136/jmg.2006.046854. Epub 2007 Jan 26. J Med Genet. 2007. PMID: 17259293 Free PMC article.
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC, Bellini M, Gasparini A, Carraro M, Bettella E, Polli R, Cesca F, Bigoni S, Boni S, Carlet O, Negrin S, Mammi I, Milani D, Peron A, Sartori S, Toldo I, Soli F, Turolla L, Stanzial F, Benedicenti F, Marino-Buslje C, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: turolla l. Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. Epub 2019 Aug 2. Hum Mutat. 2019. PMID: 31209962 Free PMC article.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
37 results