Tassano E - Search Results

1

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

Vaccari CM, Romanini MV, Musante I, Tassano E, Gimelli S, Divizia MT, Torre M, Morovic CG, Lerone M, Ravazzolo R, Puliti A. Vaccari CM, et al. Among authors: tassano e. BMC Med Genet. 2014 May 30;15:63. doi: 10.1186/1471-2350-15-63. BMC Med Genet. 2014. PMID: 24885342 Free PMC article.

2

Assessment of copy number variations in 120 patients with Poland syndrome.

Vaccari CM, Tassano E, Torre M, Gimelli S, Divizia MT, Romanini MV, Bossi S, Musante I, Valle M, Senes F, Catena N, Bedeschi MF, Baban A, Calevo MG, Acquaviva M, Lerone M, Ravazzolo R, Puliti A. Vaccari CM, et al. Among authors: tassano e. BMC Med Genet. 2016 Nov 25;17(1):89. doi: 10.1186/s12881-016-0351-x. BMC Med Genet. 2016. PMID: 27884122 Free PMC article.

3

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.

Tassano E, Mirabelli-Badenier M, Veneselli E, Puliti A, Lerone M, Vaccari CM, Morana G, Porta S, Gimelli G, Cuoco C. Tassano E, et al. Mol Cytogenet. 2015 Apr 28;8:31. doi: 10.1186/s13039-015-0134-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26052347 Free PMC article.

4

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

Rosti G, Tassano E, Bossi S, Divizia MT, Ronchetto P, Servetti M, Lerone M, Pisciotta L, Mancardi MM, Veneselli E, Puliti A. Rosti G, et al. Among authors: tassano e. Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22. Eur J Med Genet. 2019. PMID: 30359776

5

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.

Servetti M, Pisciotta L, Tassano E, Cerminara M, Nobili L, Boeri S, Rosti G, Lerone M, Divizia MT, Ronchetto P, Puliti A. Servetti M, et al. Among authors: tassano e. Front Genet. 2021 Sep 21;12:732002. doi: 10.3389/fgene.2021.732002. eCollection 2021. Front Genet. 2021. PMID: 34621295 Free PMC article.

6

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

Tassano E, Buttgereit J, Bader M, Lerone M, Divizia MT, Bocciardi R, Napoli F, Pala G, Sloan-Béna F, Gimelli S, Gimelli G. Tassano E, et al. PLoS One. 2013 Jun 21;8(6):e66048. doi: 10.1371/journal.pone.0066048. Print 2013. PLoS One. 2013. PMID: 23805197 Free PMC article.

7

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.

Tassano E, Gimelli S, Divizia MT, Lerone M, Vaccari C, Puliti A, Gimelli G. Tassano E, et al. Mol Cytogenet. 2015 Nov 5;8:87. doi: 10.1186/s13039-015-0188-6. eCollection 2015. Mol Cytogenet. 2015. PMID: 26550033 Free PMC article.

8

Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia.

Gimelli S, Cuoco C, Ronchetto P, Gimelli G, Tassano E. Gimelli S, et al. Among authors: tassano e. J Appl Genet. 2013 Aug;54(3):361-5. doi: 10.1007/s13353-013-0150-4. Epub 2013 May 5. J Appl Genet. 2013. PMID: 23645319 No abstract available.

9

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Capra V, Mascelli S, Garrè ML, Nozza P, Vaccari C, Bricco L, Sloan-Béna F, Gimelli S, Cuoco C, Gimelli G, Tassano E. Capra V, et al. Among authors: tassano e. PLoS One. 2013;8(3):e57910. doi: 10.1371/journal.pone.0057910. Epub 2013 Mar 6. PLoS One. 2013. PMID: 23483941 Free PMC article.

10

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Gimelli S, Stathaki E, Béna F, Leoni M, Di Rocco M, Cuoco C, Tassano E. Gimelli S, et al. Among authors: tassano e. Am J Med Genet A. 2014 Mar;164A(3):801-5. doi: 10.1002/ajmg.a.36357. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24591035

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