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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 1
2009 4
2010 3
2011 3
2012 4
2013 5
2014 6
2015 3
2016 4
2017 2
2018 4
2019 3
2020 3
2021 1
2022 1
2023 1
2024 0

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42 results

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Page 1
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: augello b. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Di Fede E, et al. Among authors: augello b. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. Eur J Hum Genet. 2021. PMID: 32641752 Free PMC article.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: augello b. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.
Malerba N, Benzoni P, Squeo GM, Milanesi R, Giannetti F, Sadleir LG, Poke G, Augello B, Croce AI, Barbuti A, Merla G. Malerba N, et al. Among authors: augello b. Stem Cell Res. 2019 Oct;40:101547. doi: 10.1016/j.scr.2019.101547. Epub 2019 Aug 22. Stem Cell Res. 2019. PMID: 31479876 Free article.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: augello b. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Cocciadiferro D, et al. Among authors: augello b. Hum Mol Genet. 2018 Nov 1;27(21):3651-3668. doi: 10.1093/hmg/ddy241. Hum Mol Genet. 2018. PMID: 30107592 Free PMC article.
Correction: MYC-containing amplicons in acute myeloid leukemia: genomic structures, evolution, and transcriptional consequences.
L'Abbate A, Tolomeo D, Cifola I, Severgnini M, Turchiano A, Augello B, Squeo G, D'Addabbo P, Traversa D, Daniele G, Lonoce A, Pafundi M, Carella M, Palumbo O, Dolnik A, Muehlematter D, Schoumans J, Van Roy N, De Bellis G, Martinelli G, Merla G, Bullinger L, Haferlach C, Storlazzi CT. L'Abbate A, et al. Among authors: augello b. Leukemia. 2018 Oct;32(10):2304. doi: 10.1038/s41375-018-0177-y. Leukemia. 2018. PMID: 29985446 Free PMC article.
42 results