Chessa L - Search Results

1

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Pramparo T, Grosso S, Messa J, Zatterale A, Bonaglia MC, Chessa L, Balestri P, Rocchi M, Zuffardi O, Giorda R. Pramparo T, et al. Among authors: chessa l. Hum Genet. 2005 Oct;118(1):76-81. doi: 10.1007/s00439-005-0004-1. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16001262

2

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

Delia D, Piane M, Buscemi G, Savio C, Palmeri S, Lulli P, Carlessi L, Fontanella E, Chessa L. Delia D, et al. Among authors: chessa l. Hum Mol Genet. 2004 Sep 15;13(18):2155-63. doi: 10.1093/hmg/ddh221. Epub 2004 Jul 21. Hum Mol Genet. 2004. PMID: 15269180

3

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B. Chessa L, et al. Ann Hum Genet. 2009 Sep;73(Pt 5):532-9. doi: 10.1111/j.1469-1809.2009.00535.x. Ann Hum Genet. 2009. PMID: 19691550

4

Predominance of null mutations in ataxia-telangiectasia.

Gilad S, Khosravi R, Shkedy D, Uziel T, Ziv Y, Savitsky K, Rotman G, Smith S, Chessa L, Jorgensen TJ, Harnik R, Frydman M, Sanal O, Portnoi S, Goldwicz Z, Jaspers NG, Gatti RA, Lenoir G, Lavin MF, Tatsumi K, Wegner RD, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: chessa l. Hum Mol Genet. 1996 Apr;5(4):433-9. doi: 10.1093/hmg/5.4.433. Hum Mol Genet. 1996. PMID: 8845835 Free article.

5

Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.

Vorechovský I, Luo L, Prudente S, Chessa L, Russo G, Kanariou M, James M, Negrini M, Webster AD, Hammarström L. Vorechovský I, et al. Among authors: chessa l. Eur J Hum Genet. 1996;4(6):352-5. doi: 10.1159/000472231. Eur J Hum Genet. 1996. PMID: 9043869

6

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

Tupler R, Marseglia GL, Stefanini M, Prosperi E, Chessa L, Nardo T, Marchi A, Maraschio P. Tupler R, et al. Among authors: chessa l. J Med Genet. 1997 Mar;34(3):196-202. doi: 10.1136/jmg.34.3.196. J Med Genet. 1997. PMID: 9132489 Free PMC 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: chessa l. 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

Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium.

Lange E, Borresen AL, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liang T, et al. Lange E, et al. Among authors: chessa l. Am J Hum Genet. 1995 Jul;57(1):112-9. Am J Hum Genet. 1995. PMID: 7611279 Free PMC article.

9

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti RA, Jorgensen TJ, Shiloh Y, Bar-Shira A. Gilad S, et al. Among authors: chessa l. Am J Hum Genet. 1998 Mar;62(3):551-61. doi: 10.1086/301755. Am J Hum Genet. 1998. PMID: 9497252 Free PMC article.

10

Ataxia-telangiectasia: linkage evidence for genetic heterogeneity.

Sobel E, Lange E, Jaspers NG, Chessa L, Sanal O, Shiloh Y, Taylor AM, Weemaes CM, Lange K, Gatti RA. Sobel E, et al. Among authors: chessa l. Am J Hum Genet. 1992 Jun;50(6):1343-8. Am J Hum Genet. 1992. PMID: 1598915 Free PMC article. No abstract available.

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