Palumbo O - Search Results

1

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene.

Benvenuto M, Cesarini S, Severi G, Ambrosini E, Russo A, Seri M, Palumbo P, Palumbo O, Castori M, Panza E, Carella M. Benvenuto M, et al. Among authors: palumbo o. Genes (Basel). 2024 Mar 29;15(4):430. doi: 10.3390/genes15040430. Genes (Basel). 2024. PMID: 38674365 Free PMC article.

2

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

3

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

4

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.

Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB. Chiesa N, et al. Among authors: palumbo o. Hum Mol Genet. 2012 Jan 1;21(1):10-25. doi: 10.1093/hmg/ddr419. Epub 2011 Sep 14. Hum Mol Genet. 2012. PMID: 21920939 Free PMC article.

5

Clock gene expression levels and relationship with clinical and pathological features in colorectal cancer patients.

Mazzoccoli G, Panza A, Valvano MR, Palumbo O, Carella M, Pazienza V, Biscaglia G, Tavano F, Di Sebastiano P, Andriulli A, Piepoli A. Mazzoccoli G, et al. Among authors: palumbo o. Chronobiol Int. 2011 Dec;28(10):841-51. doi: 10.3109/07420528.2011.615182. Chronobiol Int. 2011. PMID: 22080729

6

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.

7

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

8

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.

9

22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and Review.

Garavelli L, Rosato S, Wischmeijer A, Gelmini C, Esposito A, Mazzanti L, Franchi F, De Crescenzo A, Palumbo O, Carella M, Riccio A. Garavelli L, et al. Among authors: palumbo o. Mol Syndromol. 2011 Dec;2(1):35-44. doi: 10.1159/000334262. Epub 2011 Dec 5. Mol Syndromol. 2011. PMID: 22582037 Free PMC article.

10

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E. Terrone G, et al. Among authors: palumbo o. Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29. Eur J Med Genet. 2012. PMID: 22659270

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