Novelli A - Search Results

1

17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.

Giordano L, Palestra F, Giuffrida MG, Molinaro A, Iodice A, Bernardini L, La Boria P, Accorsi P, Novelli A. Giordano L, et al. Among authors: novelli a. Am J Med Genet A. 2014 Jan;164A(1):225-30. doi: 10.1002/ajmg.a.36225. Am J Med Genet A. 2014. PMID: 24501763 Review.

2

Fluorescence in situ hybridization analysis of allelic losses involving the long arm of chromosome 17 in NF1-associated neurofibromas.

De Luca A, Bernardini L, Ceccarini C, Sinibaldi L, Novelli A, Giustini S, Daniele I, Calvieri S, Mingarelli R. De Luca A, et al. Among authors: novelli a. Cancer Genet Cytogenet. 2004 Apr 15;150(2):168-72. doi: 10.1016/j.cancergencyto.2003.09.001. Cancer Genet Cytogenet. 2004. PMID: 15066327

3

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

Novelli A, Valente EM, Bernardini L, Ceccarini C, Sinibaldi L, Caputo V, Cavalli P, Dallapiccola B. Novelli A, et al. Eur J Hum Genet. 2004 Jul;12(7):579-83. doi: 10.1038/sj.ejhg.5201200. Eur J Hum Genet. 2004. PMID: 15083169

4

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism.

Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Digilio MC, Mingarelli R, Dallapiccola B. Novelli A, et al. Clin Genet. 2004 Jul;66(1):30-8. doi: 10.1111/j.0009-9163.2004.00270.x. Clin Genet. 2004. PMID: 15200505

5

Disomy of distal Xq in males: case report and overview.

Novelli A, Bernardini L, Salpietro DC, Briuglia S, Merlino MV, Mingarelli R, Dallapiccola B. Novelli A, et al. Am J Med Genet A. 2004 Jul 15;128A(2):165-9. doi: 10.1002/ajmg.a.30088. Am J Med Genet A. 2004. PMID: 15214009

6

Reproductive history of a healthy woman with mosaic duplication of chromosome 4p.

Bernardini L, Sinibaldi L, Ceccarini C, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: novelli a. Prenat Diagn. 2005 Apr;25(4):283-5. doi: 10.1002/pd.1095. Prenat Diagn. 2005. PMID: 15849782

7

Pure trisomy 19p syndrome in an infant with an extra ring chromosome.

Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Digilio MC, Mingarelli R, Dallapiccola B. Novelli A, et al. Cytogenet Genome Res. 2005;111(2):182-5. doi: 10.1159/000086391. Cytogenet Genome Res. 2005. PMID: 16103663

8

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

Shieh JT, Aradhya S, Novelli A, Manning MA, Cherry AM, Brumblay J, Salpietro CD, Bernardini L, Dallapiccola B, Hoyme HE. Shieh JT, et al. Among authors: novelli a. Am J Med Genet A. 2006 Jun 15;140(12):1267-73. doi: 10.1002/ajmg.a.31262. Am J Med Genet A. 2006. PMID: 16691576

9

Subtelomeric analysis detects a familial 10p;12p rearrangement in two relatives with a distinct syndrome.

Battaglia A, Novelli A, Ceccarini C, Bernardini L, Carey JC. Battaglia A, et al. Among authors: novelli a. Am J Med Genet A. 2007 Jan 15;143A(2):184-8. doi: 10.1002/ajmg.a.31590. Am J Med Genet A. 2007. PMID: 17163546

10

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: novelli 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

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