Novelli A - Search Results

1

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L. Ambrosetti I, et al. Among authors: novelli a. Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526. Genes (Basel). 2023. PMID: 37628577 Free PMC article. 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

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

5

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

6

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

7

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

8

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

9

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

10

Duplication 18q21.31-q22.2.

Ceccarini C, Sinibaldi L, Bernardini L, De Simone R, Mingarelli R, Novelli A, Dallapiccola B. Ceccarini C, et al. Among authors: novelli a. Am J Med Genet A. 2007 Feb 15;143(4):343-8. doi: 10.1002/ajmg.a.31588. Am J Med Genet A. 2007. PMID: 17256793

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