Tenconi R - Search Results

1

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X. Lázaro C, et al. Among authors: tenconi r. Hum Genet. 1996 Dec;98(6):696-9. doi: 10.1007/s004390050287. Hum Genet. 1996. PMID: 8931703

2

Neurofibromatosis-1: a maximum likelihood estimation of mutation rate.

Clementi M, Barbujani G, Turolla L, Tenconi R. Clementi M, et al. Among authors: tenconi r. Hum Genet. 1990 Jan;84(2):116-8. doi: 10.1007/BF00208923. Hum Genet. 1990. PMID: 2105266

3

Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17.

Clementi M, Murgia A, Anglani F, Tenconi R, Turolla L, Picci L, Zacchello F. Clementi M, et al. Among authors: tenconi r. Hum Genet. 1991 May;87(1):91-4. doi: 10.1007/BF01213101. Hum Genet. 1991. PMID: 1674720

4

A new disease-causing mutation in the GAP-related domain of the NF1 gene.

Anglani F, Murgia A, Bedin S, Bresin E, Bernardi F, Clementi M, Tenconi R. Anglani F, et al. Among authors: tenconi r. Hum Mol Genet. 1993 Jul;2(7):1057-9. doi: 10.1093/hmg/2.7.1057. Hum Mol Genet. 1993. PMID: 8364545 No abstract available.

5

Mutational spectrum of the CTNS gene in Italy.

Mason S, Pepe G, Dall'Amico R, Tartaglia S, Casciani S, Greco M, Bencivenga P, Murer L, Rizzoni G, Tenconi R, Clementi M. Mason S, et al. Among authors: tenconi r. Eur J Hum Genet. 2003 Jul;11(7):503-8. doi: 10.1038/sj.ejhg.5200993. Eur J Hum Genet. 2003. PMID: 12825071

6

Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions.

Venturin M, Gervasini C, Orzan F, Bentivegna A, Corrado L, Colapietro P, Friso A, Tenconi R, Upadhyaya M, Larizza L, Riva P. Venturin M, et al. Among authors: tenconi r. Hum Genet. 2004 Jun;115(1):69-80. doi: 10.1007/s00439-004-1101-2. Epub 2004 Apr 21. Hum Genet. 2004. PMID: 15103551

7

NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes.

Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. Riva P, et al. Among authors: tenconi r. Am J Hum Genet. 2000 Jan;66(1):100-9. doi: 10.1086/302709. Am J Hum Genet. 2000. PMID: 10631140 Free PMC article.

8

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

Minelli A, Floridia G, Rossi E, Clementi M, Tenconi R, Camurri L, Bernardi F, Hoeller H, Previde Re C, Maraschio P, et al. Minelli A, et al. Among authors: tenconi r. Hum Genet. 1993 Oct;92(4):391-6. doi: 10.1007/BF01247342. Hum Genet. 1993. PMID: 7901142

9

The familial adenomatous polyposis region exhibits many different haplotypes.

Stella A, Resta N, Polizzi A, Montera M, Cariola F, Susca F, Gismondi V, Bertario L, Marchese C, Tenconi R, Tibiletti MG, Izzo P, Gentile M, Prete F, Pannarale O, Di Matteo G, Sala P, Varesco L, Mareni C, Guanti G. Stella A, et al. Among authors: tenconi r. Hum Genet. 1998 Jun;102(6):624-8. doi: 10.1007/s004390050752. Hum Genet. 1998. PMID: 9703421

10

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I. Katzaki E, et al. Among authors: tenconi r. J Hum Genet. 2007;52(12):1011-1017. doi: 10.1007/s10038-007-0208-4. Epub 2007 Nov 8. J Hum Genet. 2007. PMID: 17990063

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