Palumbo O - Search Results

1

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.

Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Among authors: palumbo o. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free 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

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.

4

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

5

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.

6

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.

7

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

8

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Gene. 2013 Mar 1;516(1):107-13. doi: 10.1016/j.gene.2012.12.073. Epub 2012 Dec 31. Gene. 2013. PMID: 23287644

9

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G. Fusco C, et al. Among authors: palumbo o. Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756441 Free PMC article.

10

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

Palumbo O, Fichera M, Palumbo P, Rizzo R, Mazzolla E, Cocuzza DM, Carella M, Mattina T. Palumbo O, et al. Among authors: palumbo p. Am J Med Genet A. 2014 Mar;164A(3):828-33. doi: 10.1002/ajmg.a.36363. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458984

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