Cuoco C - Search Results

1

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. Among authors: cuoco c. 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

2

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

Baglietto MG, Caridi G, Gimelli G, Mancardi M, Prato G, Ronchetto P, Cuoco C, Tassano E. Baglietto MG, et al. Among authors: cuoco c. Eur J Med Genet. 2014 Jan;57(1):44-6. doi: 10.1016/j.ejmg.2013.12.001. Epub 2013 Dec 17. Eur J Med Genet. 2014. PMID: 24355400

3

Interstitial 11q24 deletion: a new case and review of the literature.

Tassano E, Janis S, Canepa A, Zanotto E, Torello C, Gimelli G, Cuoco C. Tassano E, et al. Among authors: cuoco c. J Appl Genet. 2016 Aug;57(3):357-62. doi: 10.1007/s13353-015-0333-2. Epub 2016 Mar 28. J Appl Genet. 2016. PMID: 27020790 Review.

4

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. Among authors: cuoco c. 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

5

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: cuoco c. PLoS One. 2013;8(3):e57910. doi: 10.1371/journal.pone.0057910. Epub 2013 Mar 6. PLoS One. 2013. PMID: 23483941 Free PMC article.

6

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: cuoco c. Gene. 2013 Dec 15;532(2):294-6. doi: 10.1016/j.gene.2013.09.073. Epub 2013 Sep 28. Gene. 2013. PMID: 24080482

7

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes.

Gimelli S, Leoni M, Di Rocco M, Caridi G, Porta S, Cuoco C, Gimelli G, Tassano E. Gimelli S, et al. Among authors: cuoco c. Mol Cytogenet. 2013 Nov 26;6(1):52. doi: 10.1186/1755-8166-6-52. Mol Cytogenet. 2013. PMID: 24279697 Free PMC article.

8

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.

Tassano E, Accogli A, Panigada S, Ronchetto P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: cuoco c. Mol Cytogenet. 2014 Jul 21;7:49. doi: 10.1186/1755-8166-7-49. eCollection 2014. Mol Cytogenet. 2014. PMID: 25076984 Free PMC article.

9

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.

Tassano E, Biancheri R, Denegri L, Porta S, Novara F, Zuffardi O, Gimelli G, Cuoco C. Tassano E, et al. Among authors: cuoco c. Eur J Med Genet. 2014 Nov-Dec;57(11-12):626-9. doi: 10.1016/j.ejmg.2014.09.007. Eur J Med Genet. 2014. PMID: 25451713 Review.

10

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Tassano E, Jagannathan V, Drögemüller C, Leoni M, Hytönen MK, Severino M, Gimelli S, Cuoco C, Di Rocco M, Sanio K, Groves AK, Leeb T, Gimelli G. Tassano E, et al. Among authors: cuoco c. Am J Med Genet A. 2015 Mar;167A(3):537-44. doi: 10.1002/ajmg.a.36895. Epub 2015 Feb 5. Am J Med Genet A. 2015. PMID: 25655429 Free PMC article.

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