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De novo unbalanced translocations have a complex history/aetiology.
Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1.
Hum Genet. 2018.
PMID: 30276538
Clinical Trial.
8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.
Baroncini A, Bertuzzo S, Quarantini R, Ricciardelli P, Giorda R, Bonaglia MC.
Baroncini A, et al. Among authors: bertuzzo s.
Mol Cytogenet. 2013 Nov 8;6(1):49. doi: 10.1186/1755-8166-6-49.
Mol Cytogenet. 2013.
PMID: 24206642
Free PMC article.
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Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.
Fanizza I, Bertuzzo S, Beri S, Scalera E, Massagli A, Sali ME, Giorda R, Bonaglia MC.
Fanizza I, et al. Among authors: bertuzzo s.
Eur J Med Genet. 2014 Jul;57(7):334-8. doi: 10.1016/j.ejmg.2014.04.009. Epub 2014 Apr 26.
Eur J Med Genet. 2014.
PMID: 24780630
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Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC.
Kurtas N, et al. Among authors: bertuzzo s.
J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29.
J Med Genet. 2018.
PMID: 29378768
Free PMC article.
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Partial deletion of DEPDC5 in a child with focal epilepsy.
Bonaglia MC, Giorda R, Epifanio R, Bertuzzo S, Marelli S, Gerard M, Andrieux J, Zanotta N, Zucca C.
Bonaglia MC, et al. Among authors: bertuzzo s.
Epilepsia Open. 2016 Aug 25;1(3-4):140-144. doi: 10.1002/epi4.12012. eCollection 2016 Dec.
Epilepsia Open. 2016.
PMID: 29588938
Free PMC article.
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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome.
Bonaglia MC, Bertuzzo S, Ciaschini AM, Discepoli G, Castiglia L, Romaniello R, Zuffardi O, Fichera M.
Bonaglia MC, et al. Among authors: bertuzzo s.
Mol Cytogenet. 2020 Jun 11;13:22. doi: 10.1186/s13039-020-00490-6. eCollection 2020.
Mol Cytogenet. 2020.
PMID: 32536973
Free PMC article.
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Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.
Bonaglia MC, Salvo E, Sironi M, Bertuzzo S, Errichiello E, Mattina T, Zuffardi O.
Bonaglia MC, et al. Among authors: bertuzzo s.
Front Genet. 2023 Sep 21;14:1244983. doi: 10.3389/fgene.2023.1244983. eCollection 2023.
Front Genet. 2023.
PMID: 37811140
Free PMC article.
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Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders.
Errichiello E, Lecca M, Vantaggiato C, Motta Z, Zanotta N, Zucca C, Bertuzzo S, Piubelli L, Pollegioni L, Bonaglia MC.
Errichiello E, et al. Among authors: bertuzzo s.
Eur J Hum Genet. 2024 Apr 11. doi: 10.1038/s41431-024-01603-0. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38605125
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