Tassano E - Search Results

1

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E. Capra V, et al. Among authors: tassano e. Am J Med Genet A. 2014 Feb;164A(2):495-9. doi: 10.1002/ajmg.a.36283. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311370

2

Clinical and molecular delineation of a 16p13.2p13.13 microduplication.

Tassano E, Alpigiani MG, Calcagno A, Salvati P, De Miglio L, Fiorio P, Cuoco C, Gimelli G. Tassano E, et al. Eur J Med Genet. 2015 Mar;58(3):194-8. doi: 10.1016/j.ejmg.2014.12.016. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596524

3

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, Cuoco C. Tassano E, et al. Eur J Med Genet. 2016 Jan;59(1):20-5. doi: 10.1016/j.ejmg.2015.11.011. Epub 2015 Dec 2. Eur J Med Genet. 2016. PMID: 26656975

4

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

Tassano E, Ronchetto P, Calcagno A, Fiorio P, Gimelli G, Capra V, Scala M. Tassano E, et al. J Genet. 2019 Jun;98(2):56. J Genet. 2019. PMID: 31204719 Free article.

5

Molecular cytogenetic characterization of the first reported case of an inv dup (4p)(p15.1-pter) with a concomitant 4q35.1-qter deletion and normal parents.

Tassano E, Alpigiani MG, Salvati P, Gimelli S, Lorini R, Gimelli G. Tassano E, et al. Gene. 2012 Dec 15;511(2):338-40. doi: 10.1016/j.gene.2012.09.083. Epub 2012 Sep 29. Gene. 2012. PMID: 23031810

6

De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2.

Tassano E, Di Rocco M, Signa S, Gimelli G. Tassano E, et al. Am J Med Genet A. 2013 Apr;161A(4):894-6. doi: 10.1002/ajmg.a.35781. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495052 No abstract available.

7

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

Tassano E, Accogli A, Ronchetto P, Tortora D, Tavella E, Gimelli G, Mancardi M, Malacarne M, Coviello DA. Tassano E, et al. Eur J Med Genet. 2020 Dec;63(12):104094. doi: 10.1016/j.ejmg.2020.104094. Epub 2020 Nov 4. Eur J Med Genet. 2020. PMID: 33160097

8

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.

9

Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

Occella C, Bleidl D, Nozza P, Mascelli S, Raso A, Gimelli G, Gimelli S, Tassano E. Occella C, et al. Among authors: tassano e. PLoS One. 2013 Apr 10;8(4):e61311. doi: 10.1371/journal.pone.0061311. Print 2013. PLoS One. 2013. PMID: 23593459 Free PMC article.

10

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.

Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E. Celle ME, et al. Among authors: tassano e. Gene. 2013 Dec 15;532(2):294-6. doi: 10.1016/j.gene.2013.09.073. Epub 2013 Sep 28. Gene. 2013. PMID: 24080482

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