Palumbo O - Search Results

1

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Among authors: palumbo o. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288

2

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Palumbo O, Zelante L. Bisceglia L, et al. Among authors: palumbo o. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386345 No abstract available.

3

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L. Bisceglia L, et al. Among authors: palumbo o. Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001. Mol Genet Metab. 2010. PMID: 19782624

4

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.

Carella M, Spreafico F, Palumbo O, Storlazzi CT, Tabano S, Miozzo M, Miglionico L, Calvano S, Sindici G, Gamba B, Impera L, Collini P, Zelante L, Radice P, Perotti D. Carella M, et al. Among authors: palumbo o. Am J Med Genet A. 2010 Jul;152A(7):1756-63. doi: 10.1002/ajmg.a.33420. Am J Med Genet A. 2010. PMID: 20583153

5

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.

Palumbo O, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Mol Cytogenet. 2012 Jan 3;5(1):1. doi: 10.1186/1755-8166-5-1. Mol Cytogenet. 2012. PMID: 22214275 Free PMC article.

6

Altered expression of the clock gene machinery in kidney cancer patients.

Mazzoccoli G, Piepoli A, Carella M, Panza A, Pazienza V, Benegiamo G, Palumbo O, Ranieri E. Mazzoccoli G, et al. Among authors: palumbo o. Biomed Pharmacother. 2012 Apr;66(3):175-9. doi: 10.1016/j.biopha.2011.11.007. Epub 2011 Dec 21. Biomed Pharmacother. 2012. PMID: 22436651

7

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

Piepoli A, Tavano F, Copetti M, Mazza T, Palumbo O, Panza A, di Mola FF, Pazienza V, Mazzoccoli G, Biscaglia G, Gentile A, Mastrodonato N, Carella M, Pellegrini F, di Sebastiano P, Andriulli A. Piepoli A, et al. Among authors: palumbo o. PLoS One. 2012;7(3):e33663. doi: 10.1371/journal.pone.0033663. Epub 2012 Mar 30. PLoS One. 2012. PMID: 22479426 Free PMC article.

8

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.

Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L. Mattina T, et al. Among authors: palumbo o. Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29. Eur J Med Genet. 2012. PMID: 23032921 Review.

9

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.

Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Gene. 2013 Jan 15;513(1):209-13. doi: 10.1016/j.gene.2012.09.132. Epub 2012 Nov 7. Gene. 2013. PMID: 23142376 Review.

10

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Am J Med Genet A. 2012 Dec;158A(12):3182-9. doi: 10.1002/ajmg.a.35631. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23166063

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