Palumbo P - Search Results

1

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

Maggiolini FAM, Cantsilieris S, D'Addabbo P, Manganelli M, Coe BP, Dumont BL, Sanders AD, Pang AWC, Vollger MR, Palumbo O, Palumbo P, Accadia M, Carella M, Eichler EE, Antonacci F. Maggiolini FAM, et al. Among authors: palumbo o, palumbo p. PLoS Genet. 2019 Mar 27;15(3):e1008075. doi: 10.1371/journal.pgen.1008075. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30917130 Free PMC article.

2

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.

3

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.

4

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

5

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

6

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

7

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.

Palumbo P, Antona V, Palumbo O, Piccione M, Nardello R, Fontana A, Carella M, Corsello G. Palumbo P, et al. Among authors: palumbo o. Gene. 2014 Apr 1;538(2):373-8. doi: 10.1016/j.gene.2014.01.050. Epub 2014 Jan 29. Gene. 2014. PMID: 24487052

8

A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome.

Palumbo O, Mattina T, Palumbo P, Carella M, Perrotta CS. Palumbo O, et al. Among authors: palumbo p. Mol Syndromol. 2014 Jan;5(1):11-8. doi: 10.1159/000356459. Epub 2013 Nov 28. Mol Syndromol. 2014. PMID: 24550760 Free PMC article.

9

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Gandin I, Faletra F, Faletra F, Carella M, Pecile V, Ferrero GB, Biamino E, Palumbo P, Palumbo O, Bosco P, Romano C, Belcaro C, Vozzi D, d'Adamo AP. Gandin I, et al. Among authors: palumbo o, palumbo p. Genet Med. 2015 May;17(5):396-9. doi: 10.1038/gim.2014.118. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232855 Free article.

10

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Vetro A, et al. Among authors: palumbo o, palumbo p. Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25351776 Free PMC article.

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