Bernardini L - Search Results

1

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.

Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D. Novelli A, et al. Among authors: bernardini l. Ultrasound Obstet Gynecol. 2012 Apr;39(4):384-8. doi: 10.1002/uog.11092. Ultrasound Obstet Gynecol. 2012. PMID: 22262341 Free 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: bernardini l. 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. Among authors: bernardini l. 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. Among authors: bernardini l. 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. Among authors: bernardini l. 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. 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. Among authors: bernardini l. Cytogenet Genome Res. 2005;111(2):182-5. doi: 10.1159/000086391. Cytogenet Genome Res. 2005. PMID: 16103663

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: bernardini l. 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. 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: bernardini l. 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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