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Page 1
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.
miRNome profiling of lung cancer metastases revealed a key role for miRNA-PD-L1 axis in the modulation of chemotherapy response.
Cuttano R, Colangelo T, Guarize J, Dama E, Cocomazzi MP, Mazzarelli F, Melocchi V, Palumbo O, Marino E, Belloni E, Montani F, Vecchi M, Barberis M, Graziano P, Pasquier A, Sanz-Ortega J, Montuenga LM, Carbonelli C, Spaggiari L, Bianchi F. Cuttano R, et al. Among authors: palumbo o. J Hematol Oncol. 2022 Dec 31;15(1):178. doi: 10.1186/s13045-022-01394-1. J Hematol Oncol. 2022. PMID: 36587234 Free PMC article.
Different states of stemness of glioblastoma stem cells sustain glioblastoma subtypes indicating novel clinical biomarkers and high-efficacy customized therapies.
Visioli A, Trivieri N, Mencarelli G, Giani F, Copetti M, Palumbo O, Pracella R, Cariglia MG, Barile C, Mischitelli L, Soriano AA, Palumbo P, Legnani F, DiMeco F, Gorgoglione L, Pesole G, Vescovi AL, Binda E. Visioli A, et al. Among authors: palumbo o, palumbo p. J Exp Clin Cancer Res. 2023 Sep 21;42(1):244. doi: 10.1186/s13046-023-02811-0. J Exp Clin Cancer Res. 2023. PMID: 37735434 Free PMC article.
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, De Rinaldis M, Rosati A, Kerkhof J, Sadikovic B, Resta N. Bukvic N, et al. Among authors: palumbo o, palumbo p. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.
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.
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.
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
170 results