Gatti RA - Search Results

1

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

Cavalieri S, Funaro A, Pappi P, Migone N, Gatti RA, Brusco A. Cavalieri S, et al. Among authors: gatti ra. Ann Hum Genet. 2008 Jan;72(Pt 1):10-8. doi: 10.1111/j.1469-1809.2007.00399.x. Epub 2007 Oct 3. Ann Hum Genet. 2008. PMID: 17910737

2

ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.

Cavalieri S, Funaro A, Porcedda P, Turinetto V, Migone N, Gatti RA, Brusco A. Cavalieri S, et al. Among authors: gatti ra. Hum Mutat. 2006 Oct;27(10):1061. doi: 10.1002/humu.9454. Hum Mutat. 2006. PMID: 16941484

3

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Cavalieri S, Pozzi E, Gatti RA, Brusco A. Cavalieri S, et al. Among authors: gatti ra. Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266. Epub 2012 Dec 5. Eur J Hum Genet. 2013. PMID: 23211698 Free PMC article.

4

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

Coutinho G, Xie J, Du L, Brusco A, Krainer AR, Gatti RA. Coutinho G, et al. Among authors: gatti ra. Hum Mutat. 2005 Feb;25(2):118-24. doi: 10.1002/humu.20170. Hum Mutat. 2005. PMID: 15643608

5

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T, Mizutani S, Brusco A, Gatti RA. Nakamura K, et al. Among authors: gatti ra. Hum Mutat. 2012 Jan;33(1):198-208. doi: 10.1002/humu.21632. Epub 2011 Nov 9. Hum Mutat. 2012. PMID: 22006793 Free PMC article.

6

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A. Mancini C, et al. Among authors: gatti ra. Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3. Neurogenetics. 2012. PMID: 22552818 Free article.

7

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.

Teraoka SN, Telatar M, Becker-Catania S, Liang T, Onengüt S, Tolun A, Chessa L, Sanal O, Bernatowska E, Gatti RA, Concannon P. Teraoka SN, et al. Among authors: gatti ra. Am J Hum Genet. 1999 Jun;64(6):1617-31. doi: 10.1086/302418. Am J Hum Genet. 1999. PMID: 10330348 Free PMC article.

8

ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.

Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G, Purayidom A, Concannon P, Gatti RA. Mitui M, et al. Among authors: gatti ra. Ann Hum Genet. 2005 Nov;69(Pt 6):657-64. doi: 10.1111/j.1529-8817.2005.00199.x. Ann Hum Genet. 2005. PMID: 16266405

9

Comprehensive scanning of the ATM gene with DOVAM-S.

Buzin CH, Gatti RA, Nguyen VQ, Wen CY, Mitui M, Sanal O, Chen JS, Nozari G, Mengos A, Li X, Fujimura F, Sommer SS. Buzin CH, et al. Among authors: gatti ra. Hum Mutat. 2003 Feb;21(2):123-31. doi: 10.1002/humu.10158. Hum Mutat. 2003. PMID: 12552559

10

ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.

Birrell GW, Kneebone K, Nefedov M, Nefedova E, Jartsev MN, Mitsui M, Gatti RA, Lavin MF. Birrell GW, et al. Among authors: gatti ra. Hum Mutat. 2005 Jun;25(6):593. doi: 10.1002/humu.9341. Hum Mutat. 2005. PMID: 15880721

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