Novelli A - Search Results

1

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.

Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, Novelli A. Cocciadiferro D, et al. Among authors: novelli a. Medicine (Baltimore). 2020 Feb;99(8):e19169. doi: 10.1097/MD.0000000000019169. Medicine (Baltimore). 2020. PMID: 32080096 Free PMC article.

2

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.

Novelli A, Sabani M, Caiola A, Digilio MC, Giannotti A, Mingarelli R, Novelli G, Dallapiccola B. Novelli A, et al. Among authors: novelli g. Mol Cell Probes. 1999 Aug;13(4):303-7. doi: 10.1006/mcpr.1999.0252. Mol Cell Probes. 1999. PMID: 10441203

3

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.

Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B. Botta A, et al. Among authors: novelli g, novelli a. J Med Genet. 1999 Jun;36(6):478-80. J Med Genet. 1999. PMID: 10874638 Free PMC article.

4

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

5

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

6

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

7

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

8

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

9

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

10

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

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