Capalbo A - Search Results

1

Altered Expression of Candidate Genes in Mayer-Rokitansky-Küster-Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X.

Pontecorvi P, Megiorni F, Camero S, Ceccarelli S, Bernardini L, Capalbo A, Anastasiadou E, Gerini G, Messina E, Perniola G, Benedetti Panici P, Grammatico P, Pizzuti A, Marchese C. Pontecorvi P, et al. Among authors: capalbo a. Biology (Basel). 2021 May 21;10(6):450. doi: 10.3390/biology10060450. Biology (Basel). 2021. PMID: 34063745 Free PMC article.

2

Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.

Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: capalbo a. Eur J Med Genet. 2007 Mar-Apr;50(2):94-102. doi: 10.1016/j.ejmg.2006.11.001. Epub 2006 Nov 23. Eur J Med Genet. 2007. PMID: 17236832

3

Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: capalbo a. Am J Med Genet A. 2007 Dec 15;143A(24):2937-43. doi: 10.1002/ajmg.a.32092. Am J Med Genet A. 2007. PMID: 18000908

4

Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.

Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottillo I, Mingarelli R, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: capalbo a. Am J Med Genet A. 2008 Jan 15;146A(2):238-44. doi: 10.1002/ajmg.a.32093. Am J Med Genet A. 2008. PMID: 18080328

5

De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.

Velinov M, Novelli A, Gu H, Fenko M, Dolzhanskaya N, Bernardini L, Capalbo A, Dallapiccola B, Jenkins EC, Brown WT. Velinov M, et al. Among authors: capalbo a. Clin Dysmorphol. 2009 Jan;18(1):9-12. doi: 10.1097/MCD.0b013e3283157cad. Clin Dysmorphol. 2009. PMID: 19090026

6

2q31.2q32.3 deletion syndrome: report of an adult patient.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Ardisia C, Novelli A, Dallapiccola B, Donti E. Prontera P, et al. Among authors: capalbo a. Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688. Am J Med Genet A. 2009. PMID: 19248183

7

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.

Bernardini L, Sinibaldi L, Capalbo A, Bottillo I, Mancuso B, Torres B, Novelli A, Digilio MC, Dallapiccola B. Bernardini L, et al. Among authors: capalbo a. Clin Genet. 2009 Jul;76(1):117-9. doi: 10.1111/j.1399-0004.2009.01170.x. Clin Genet. 2009. PMID: 19659764 No abstract available.

8

X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart.

Bernardini L, Giuffrida MG, Francalanci P, Capalbo A, Novelli A, Callea F, Dallapiccola B. Bernardini L, et al. Among authors: capalbo a. Am J Med Genet A. 2010 Aug;152A(8):1967-72. doi: 10.1002/ajmg.a.33538. Am J Med Genet A. 2010. PMID: 20635409 Clinical Trial.

9

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.

Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM. Ferraris A, et al. Among authors: capalbo a. Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75. Orphanet J Rare Dis. 2013. PMID: 23679990 Free PMC article.

10

A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.

Miolo G, Giuffrida MG, Corona G, Capalbo A, Pivetta B, Tessitori G, Bernardini L. Miolo G, et al. Among authors: capalbo a. Eur J Med Genet. 2019 Sep;62(9):103558. doi: 10.1016/j.ejmg.2018.10.010. Epub 2018 Oct 25. Eur J Med Genet. 2019. PMID: 31405577

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