Novelli A - Search Results

1

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome.

Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B. Amati F, et al. Among authors: novelli g, novelli a. Eur J Hum Genet. 1999 Dec;7(8):903-9. doi: 10.1038/sj.ejhg.5200399. Eur J Hum Genet. 1999. PMID: 10602366

2

Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q.

Iannetti P, Spalice A, Mingarelli R, Raucci U, Novelli A, Dallapiccola B. Iannetti P, et al. Among authors: novelli a. Ann Genet. 1996;39(1):26-30. Ann Genet. 1996. PMID: 9297440

3

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

4

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.

5

Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues.

Contino G, Amati F, Pucci S, Pontieri E, Pichiorri F, Novelli A, Botta A, Mango R, Nardone AM, Sangiuolo FC, Citro G, Spagnoli LG, Novelli G. Contino G, et al. Among authors: novelli g, novelli a. Gene. 2004 Mar 17;328:69-74. doi: 10.1016/j.gene.2003.11.017. Gene. 2004. PMID: 15019985

6

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

7

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

8

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

9

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

10

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

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