Guanti G - Search Results

1

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

Hastings ML, Resta N, Traum D, Stella A, Guanti G, Krainer AR. Hastings ML, et al. Among authors: guanti g. Nat Struct Mol Biol. 2005 Jan;12(1):54-9. doi: 10.1038/nsmb873. Epub 2004 Dec 19. Nat Struct Mol Biol. 2005. PMID: 15608654

2

Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects.

Resta N, Giorda R, Bagnulo R, Beri S, Della Mina E, Stella A, Piglionica M, Susca FC, Guanti G, Zuffardi O, Ciccone R. Resta N, et al. Among authors: guanti g. Hum Genet. 2010 Oct;128(4):373-82. doi: 10.1007/s00439-010-0859-7. Epub 2010 Jul 11. Hum Genet. 2010. PMID: 20623358

3

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

Resta N, Stella A, Susca FC, Di Giacomo M, Forleo G, Miccolis I, Rossini FP, Genuardi M, Piepoli A, Grammatico P, Guanti G. Resta N, et al. Among authors: guanti g. Hum Mutat. 2002 Jul;20(1):78-9. doi: 10.1002/humu.9046. Hum Mutat. 2002. PMID: 12112668

4

Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients.

Boudeau J, Kieloch A, Alessi DR, Stella A, Guanti G, Resta N. Boudeau J, et al. Among authors: guanti g. Hum Mutat. 2003 Feb;21(2):172. doi: 10.1002/humu.9112. Hum Mutat. 2003. PMID: 12552571

5

Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.

Resta N, Lauriola L, Puca A, Susca FC, Albanese A, Sabatino G, Di Giacomo MC, Gessi M, Guanti G. Resta N, et al. Among authors: guanti g. Acta Neuropathol. 2006 Jul;112(1):106-11. doi: 10.1007/s00401-006-0084-6. Epub 2006 May 30. Acta Neuropathol. 2006. PMID: 16733653

6

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

Mehenni H, Resta N, Guanti G, Mota-Vieira L, Lerner A, Peyman M, Chong KA, Aissa L, Ince A, Cosme A, Costanza MC, Rossier C, Radhakrishna U, Burt RW, Picard D. Mehenni H, et al. Among authors: guanti g. Dig Dis Sci. 2007 Aug;52(8):1924-33. doi: 10.1007/s10620-006-9435-3. Epub 2007 Apr 3. Dig Dis Sci. 2007. PMID: 17404884

7

Cancer risks in LKB1 germline mutation carriers.

Mehenni H, Resta N, Park JG, Miyaki M, Guanti G, Costanza MC. Mehenni H, et al. Among authors: guanti g. Gut. 2006 Jul;55(7):984-90. doi: 10.1136/gut.2005.082990. Epub 2006 Jan 11. Gut. 2006. PMID: 16407375 Free PMC article.

8

Novel splice isoforms of STRADalpha differentially affect LKB1 activity, complex assembly and subcellular localization.

Marignani PA, Scott KD, Bagnulo R, Cannone D, Ferrari E, Stella A, Guanti G, Simone C, Resta N. Marignani PA, et al. Among authors: guanti g. Cancer Biol Ther. 2007 Oct;6(10):1627-31. doi: 10.4161/cbt.6.10.4787. Epub 2007 Jul 24. Cancer Biol Ther. 2007. PMID: 17921699

9

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

Lastella P, Surdo NC, Resta N, Guanti G, Stella A. Lastella P, et al. Among authors: guanti g. BMC Genomics. 2006 Sep 22;7:243. doi: 10.1186/1471-2164-7-243. BMC Genomics. 2006. PMID: 16995940 Free PMC article.

10

STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer.

Resta N, Simone C, Mareni C, Montera M, Gentile M, Susca F, Gristina R, Pozzi S, Bertario L, Bufo P, Carlomagno N, Ingrosso M, Rossini FP, Tenconi R, Guanti G. Resta N, et al. Among authors: guanti g. Cancer Res. 1998 Nov 1;58(21):4799-801. Cancer Res. 1998. PMID: 9809980

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