Bottillo I - Search Results

1

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: bottillo i. Hum Mutat. 2004 Jun;23(6):629. doi: 10.1002/humu.9245. Hum Mutat. 2004. PMID: 15146469

2

Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13, 1268".

Di Giosaffatte N, Grammatico P, Bottillo I. Di Giosaffatte N, et al. Among authors: bottillo i. Genes (Basel). 2023 Nov 29;14(12):2161. doi: 10.3390/genes14122161. Genes (Basel). 2023. PMID: 38136983 Free PMC article.

3

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: bottillo i. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.

4

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

5

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes.

Sarkozy A, Schirinzi A, Lepri F, Bottillo I, De Luca A, Pizzuti A, Tartaglia M, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: bottillo i. Am J Med Genet A. 2007 May 1;143A(9):1009-11. doi: 10.1002/ajmg.a.31666. Am J Med Genet A. 2007. PMID: 17366582 No abstract available.

6

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

7

Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.

Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottillo I, Mingarelli R, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: bottillo i. Am J Med Genet A. 2008 Jan 15;146A(2):238-44. doi: 10.1002/ajmg.a.32093. Am J Med Genet A. 2008. PMID: 18080328

8

RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A.

Ahlquist T, Bottillo I, Danielsen SA, Meling GI, Rognum TO, Lind GE, Dallapiccola B, Lothe RA. Ahlquist T, et al. Among authors: bottillo i. Neoplasia. 2008 Jul;10(7):680-6, 2 p following 686. doi: 10.1593/neo.08312. Neoplasia. 2008. PMID: 18592002 Free PMC article.

9

Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.

Bottillo I, Ahlquist T, Brekke H, Danielsen SA, van den Berg E, Mertens F, Lothe RA, Dallapiccola B. Bottillo I, et al. J Pathol. 2009 Apr;217(5):693-701. doi: 10.1002/path.2494. J Pathol. 2009. PMID: 19142971

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: bottillo i. 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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