Zelante L - Search Results

1

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: zelante l. Mol Cytogenet. 2012 Jan 3;5(1):1. doi: 10.1186/1755-8166-5-1. Mol Cytogenet. 2012. PMID: 22214275 Free PMC article.

2

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Palumbo O, Fischetto R, Palumbo P, Nicastro F, Papadia F, Zelante L, Carella M. Palumbo O, et al. Among authors: zelante l. Mol Cytogenet. 2015 Aug 16;8:66. doi: 10.1186/s13039-015-0170-3. eCollection 2015. Mol Cytogenet. 2015. PMID: 26279679 Free PMC article.

3

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.

Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M. Palumbo P, et al. Among authors: zelante l. Mol Cytogenet. 2016 May 27;9:40. doi: 10.1186/s13039-016-0252-x. eCollection 2016. Mol Cytogenet. 2016. PMID: 27239227 Free PMC article.

4

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: zelante l. Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001. Mol Genet Metab. 2010. PMID: 19782624

5

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: zelante l. 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.

6

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: zelante l. 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

7

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: zelante l. Gene. 2013 Mar 1;516(1):107-13. doi: 10.1016/j.gene.2012.12.073. Epub 2012 Dec 31. Gene. 2013. PMID: 23287644

8

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: zelante l. 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.

9

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M. Palumbo P, et al. Among authors: zelante l. Am J Med Genet A. 2015 Sep;167A(9):2219-22. doi: 10.1002/ajmg.a.37142. Epub 2015 May 21. Am J Med Genet A. 2015. PMID: 25994769 No abstract available.

10

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.

Alemanno MS, Cama E, Santarelli R, Carella M, Zelante L, Toffolatti L, Palladino T, Melchionda S, Arslan E. Alemanno MS, et al. Among authors: zelante l. Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):127-31. doi: 10.1016/j.ijporl.2008.09.019. Epub 2008 Nov 5. Int J Pediatr Otorhinolaryngol. 2009. PMID: 18990456

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