Capalbo A - Search Results

1

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

Marongiu R, Brancati F, Antonini A, Ialongo T, Ceccarini C, Scarciolla O, Capalbo A, Benti R, Pezzoli G, Dallapiccola B, Goldwurm S, Valente EM. Marongiu R, et al. Among authors: capalbo a. Hum Mutat. 2007 Jan;28(1):98. doi: 10.1002/humu.9472. Hum Mutat. 2007. PMID: 17154281

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

Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.

Carbone A, Bernardini L, Valenzano F, Bottillo I, De Simone C, Capizzi R, Capalbo A, Romano F, Novelli A, Dallapiccola B, Amerio P. Carbone A, et al. Among authors: capalbo a. Genes Chromosomes Cancer. 2008 Dec;47(12):1067-75. doi: 10.1002/gcc.20601. Genes Chromosomes Cancer. 2008. PMID: 18663754

6

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

7

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

8

16p subtelomeric duplication: a clinically recognizable syndrome.

Digilio MC, Bernardini L, Capalbo A, Capolino R, Gagliardi MG, Marino B, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: capalbo a. Eur J Hum Genet. 2009 Sep;17(9):1135-40. doi: 10.1038/ejhg.2009.14. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293839 Free PMC article.

9

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.

Digilio MC, Bernardini L, Mingarelli R, Capolino R, Capalbo A, Giuffrida MG, Versacci P, Novelli A, Dallapiccola B. Digilio MC, et al. Among authors: capalbo a. Am J Med Genet A. 2009 Aug;149A(8):1777-81. doi: 10.1002/ajmg.a.32965. Am J Med Genet A. 2009. PMID: 19610115

10

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.

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