Porta S - Search Results

1

Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity.

Tassano E, Uccella S, Giacomini T, Striano P, Severino M, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: porta s. Cytogenet Genome Res. 2018;156(1):14-21. doi: 10.1159/000491871. Epub 2018 Aug 8. Cytogenet Genome Res. 2018. PMID: 30086552 Review.

2

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.

Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Among authors: porta s. Eur J Med Genet. 2018 Aug;61(8):428-433. doi: 10.1016/j.ejmg.2018.02.011. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501613

3

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

4

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: porta s. Mol Cytogenet. 2013 Nov 26;6(1):52. doi: 10.1186/1755-8166-6-52. Mol Cytogenet. 2013. PMID: 24279697 Free PMC article.

5

Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.

Tassano E, De Santis LR, Corona MF, Parmigiani S, Zanetti D, Porta S, Gimelli G, Cuoco C. Tassano E, et al. Among authors: porta s. Mol Cytogenet. 2015 Feb 5;8:9. doi: 10.1186/s13039-015-0115-x. eCollection 2015. Mol Cytogenet. 2015. PMID: 25705258 Free PMC article.

6

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: porta s. 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.

7

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. Among authors: porta s. Mol Cytogenet. 2015 Apr 28;8:31. doi: 10.1186/s13039-015-0134-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26052347 Free PMC article.

8

[A case of partial 9p monosomy].

Monteverde R, Gimelli G, Cuoco C, Porta S, Lattere M. Monteverde R, et al. Among authors: porta s. Minerva Pediatr. 1983 Nov 30;35(22):1133-6. Minerva Pediatr. 1983. PMID: 6672601 Italian. No abstract available.

9

Identification of ring Y chromosome: cytogenetic analysis, Southern blot and fluorescent in situ hybridization.

Pezzolo A, Perroni L, Gimelli G, Arslanian A, Porta S, Gandullia P, Gandullia E. Pezzolo A, et al. Among authors: porta s. Ann Genet. 1993;36(2):121-5. Ann Genet. 1993. PMID: 8215218

10

XY female with a dysgerminoma and no mutation in the coding sequence of the SRY gene.

Morerio C, Calvari V, Rosanda C, Porta S, Gambini C, Panarello C. Morerio C, et al. Among authors: porta s. Cancer Genet Cytogenet. 2002 Jul 1;136(1):58-61. doi: 10.1016/s0165-4608(01)00662-8. Cancer Genet Cytogenet. 2002. PMID: 12165453

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