Sinibaldi L - Search Results

1

Ceccarini C, Sinibaldi L, Bernardini L, De Simone R, Mingarelli R, Novelli A, Dallapiccola B. Ceccarini C, et al. Among authors: sinibaldi 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

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: sinibaldi 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: sinibaldi 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

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B. De Luca A, et al. Among authors: sinibaldi l. Hum Mutat. 2004 Jun;23(6):629. doi: 10.1002/humu.9245. Hum Mutat. 2004. PMID: 15146469

5

Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia.

Sinibaldi L, De Luca A, Bellacchio E, Conti E, Pasini A, Paloscia C, Spalletta G, Caltagirone C, Pizzuti A, Dallapiccola B. Sinibaldi L, et al. Hum Mutat. 2004 Dec;24(6):534-5. doi: 10.1002/humu.9292. Hum Mutat. 2004. PMID: 15532024

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. Among authors: sinibaldi l. Prenat Diagn. 2005 Apr;25(4):283-5. doi: 10.1002/pd.1095. Prenat Diagn. 2005. PMID: 15849782

7

Pachydermoperiostosis: an update.

Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Castori M, et al. Among authors: sinibaldi l. Clin Genet. 2005 Dec;68(6):477-86. doi: 10.1111/j.1399-0004.2005.00533.x. Clin Genet. 2005. PMID: 16283874 Review.

8

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M, Piane M, Torrente I, Sinibaldi L, Rizzo G, Savio C, Lulli P, De Luca A, Dallapiccola B, Chessa L. Magliozzi M, et al. Among authors: sinibaldi l. Dis Markers. 2006;22(4):257-64. doi: 10.1155/2006/740493. Dis Markers. 2006. PMID: 17124347 Free PMC article.

9

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: sinibaldi l. J Med Genet. 2007 Dec;44(12):800-8. doi: 10.1136/jmg.2007.053785. J Med Genet. 2007. PMID: 18055911 Free PMC article.

10

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication.

Bernardini L, Sinibaldi L, Capalbo A, Bottillo I, Mancuso B, Torres B, Novelli A, Digilio MC, Dallapiccola B. Bernardini L, et al. Among authors: sinibaldi l. Clin Genet. 2009 Jul;76(1):117-9. doi: 10.1111/j.1399-0004.2009.01170.x. Clin Genet. 2009. PMID: 19659764 No abstract available.

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