Lombardo A - Search Results

1

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, Sallicandro E, Falasca R, Liambo MT, Faggiano MV, Roberti MC, Di Donato M, Vitelli A, Russo S, Giannini R, Micalizzi A, Pietrafusa N, Digilio MC, Novelli A, Fusco L, Alesi V. Lombardo A, et al. Int J Mol Sci. 2024 Jun 24;25(13):6912. doi: 10.3390/ijms25136912. Int J Mol Sci. 2024. PMID: 39000022 Free PMC article.

2

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A. Roberti MC, et al. Among authors: lombardo a. Orphanet J Rare Dis. 2011 Apr 19;6:17. doi: 10.1186/1750-1172-6-17. Orphanet J Rare Dis. 2011. PMID: 21504564 Free PMC article.

3

Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Ciocca L, Surace C, Digilio MC, Roberti MC, Sirleto P, Lombardo A, Russo S, Brizi V, Grotta S, Cini C, Angioni A. Ciocca L, et al. Among authors: lombardo a. BMC Med Genomics. 2013 Feb 11;6:3. doi: 10.1186/1755-8794-6-3. BMC Med Genomics. 2013. PMID: 23398904 Free PMC article.

4

Hypoplastic left heart syndrome and 21q22.3 deletion.

Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B. Ciocca L, et al. Among authors: lombardo a. Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663264 Review.

5

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality.

Surace C, Digilio MC, Lombardo A, Sirleto P, Tomaiuolo AC, Roberti MC, Capolino R, Angioni A. Surace C, et al. Among authors: lombardo a. Cytogenet Genome Res. 2008;121(3-4):215-21. doi: 10.1159/000138888. Epub 2008 Aug 28. Cytogenet Genome Res. 2008. PMID: 18758162

6

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A. Surace C, et al. Among authors: lombardo a. Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x. Clin Genet. 2009. PMID: 19793054

7

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.

Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B. Digilio MC, et al. Among authors: lombardo a. Clin Genet. 2003 Apr;63(4):308-13. doi: 10.1034/j.1399-0004.2003.00049.x. Clin Genet. 2003. PMID: 12702165

8

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

Sirleto P, Surace C, Santos H, Bertini E, Tomaiuolo AC, Lombardo A, Boenzi S, Bevivino E, Dionisi-Vici C, Angioni A. Sirleto P, et al. Among authors: lombardo a. Pediatr Res. 2009 Mar;65(3):347-51. doi: 10.1203/PDR.0b013e3181973b4e. Pediatr Res. 2009. PMID: 19092723

9

Endocrine autoimmunity in Turner syndrome.

Grossi A, Crinò A, Luciano R, Lombardo A, Cappa M, Fierabracci A. Grossi A, et al. Among authors: lombardo a. Ital J Pediatr. 2013 Dec 20;39:79. doi: 10.1186/1824-7288-39-79. Ital J Pediatr. 2013. PMID: 24355069 Free PMC article.

10

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

Tomaiuolo AC, Sirleto P, Centrone C, Surace C, Alghisi F, Petrocchi S, Lombardo A, Rossi M, Torricelli F, Lucidi V, Angioni A. Tomaiuolo AC, et al. Among authors: lombardo a. Clin Biochem. 2011 Jul;44(10-11):799-803. doi: 10.1016/j.clinbiochem.2011.03.140. Epub 2011 Apr 22. Clin Biochem. 2011. PMID: 21536020

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