Palumbo P - Search Results

1

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Am J Med Genet A. 2015 Feb;167A(2):438-44. doi: 10.1002/ajmg.a.36872. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428890 Review.

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

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L. Ciavarella M, et al. Among authors: palumbo p. Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20. Gene. 2013. PMID: 23262345

6

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

7

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

8

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

9

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.

10

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

Mozzillo E, Delvecchio M, Carella M, Grandone E, Palumbo P, Salina A, Aloi C, Buono P, Izzo A, D'Annunzio G, Vecchione G, Orrico A, Genesio R, Simonelli F, Franzese A. Mozzillo E, et al. Among authors: palumbo p. BMC Med Genet. 2014 Jul 24;15:88. doi: 10.1186/1471-2350-15-88. BMC Med Genet. 2014. PMID: 25056293 Free PMC article.

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