Novelli A - Search Results

1

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Sinibaldi L, Garone G, Mandarino A, Iarossi G, Chioma L, Dentici ML, Merla G, Agolini E, Micalizzi A, Mancini C, Niceta M, Macchiaiolo M, Diodato D, Onesimo R, Blandino R, Delogu AB, De Rosa G, Trevisan V, Iademarco M, Zampino G, Tartaglia M, Novelli A, Bartuli A, Digilio MC, Calcagni G. Sinibaldi L, et al. Among authors: novelli a. Clin Genet. 2023 Nov;104(5):528-541. doi: 10.1111/cge.14404. Epub 2023 Jul 17. Clin Genet. 2023. PMID: 37455656

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

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

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

8

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.

De Luca A, Bottillo I, Dasdia MC, Morella A, Lanari V, Bernardini L, Divona L, Giustini S, Sinibaldi L, Novelli A, Torrente I, Schirinzi A, Dallapiccola B. De Luca A, et al. Among authors: novelli a. J Med Genet. 2007 Dec;44(12):800-8. doi: 10.1136/jmg.2007.053785. J Med Genet. 2007. PMID: 18055911 Free PMC article.

9

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: novelli 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.

10

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: novelli 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

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