Palumbo O - Search Results

1

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

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

On the reproducibility of results of pathway analysis in genome-wide expression studies of colorectal cancers.

Maglietta R, Distaso A, Piepoli A, Palumbo O, Carella M, D'Addabbo A, Mukherjee S, Ancona N. Maglietta R, et al. Among authors: palumbo o. J Biomed Inform. 2010 Jun;43(3):397-406. doi: 10.1016/j.jbi.2009.09.005. Epub 2009 Sep 29. J Biomed Inform. 2010. PMID: 19796710 Free article.

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

Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure.

Storlazzi CT, Lonoce A, Guastadisegni MC, Trombetta D, D'Addabbo P, Daniele G, L'Abbate A, Macchia G, Surace C, Kok K, Ullmann R, Purgato S, Palumbo O, Carella M, Ambros PF, Rocchi M. Storlazzi CT, et al. Among authors: palumbo o. Genome Res. 2010 Sep;20(9):1198-206. doi: 10.1101/gr.106252.110. Epub 2010 Jul 14. Genome Res. 2010. PMID: 20631050 Free PMC article.

6

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.

7

Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.

Cozzolino M, Augello B, Carella M, Palumbo O, Tavazzi B, Amorini AM, Lazzarino G, Merla G, Brunetti-Pierri N. Cozzolino M, et al. Among authors: palumbo o. Mol Genet Metab. 2011 Dec;104(4):706-7. doi: 10.1016/j.ymgme.2011.09.031. Epub 2011 Oct 1. Mol Genet Metab. 2011. PMID: 22019069 No abstract available.

8

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

9

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G. Molin AM, et al. Among authors: palumbo o. J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17. J Med Genet. 2012. PMID: 22180640 Free PMC article.

10

Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.

Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT. Guastadisegni MC, et al. Among authors: palumbo o. Eur J Med Genet. 2012 Feb;55(2):120-3. doi: 10.1016/j.ejmg.2011.11.007. Epub 2011 Dec 8. Eur J Med Genet. 2012. PMID: 22201559

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