Resta N - Search Results

1

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. Cancer Res. 1998 Nov 1;58(21):4799-801. Cancer Res. 1998. PMID: 9809980

2

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.

Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, De Rinaldis M, Rosati A, Kerkhof J, Sadikovic B, Resta N. Bukvic N, et al. Among authors: resta n. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.

3

Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97.

Thejer BM, Infantino V, Santarsiero A, Pappalardo I, Abatematteo FS, Teakel S, Van Oosterum A, Mach RH, Denora N, Lee BC, Resta N, Bagnulo R, Niso M, Contino M, Montsch B, Heffeter P, Abate C, Cahill MA. Thejer BM, et al. Among authors: resta n. Int J Mol Sci. 2023 Mar 28;24(7):6381. doi: 10.3390/ijms24076381. Int J Mol Sci. 2023. PMID: 37047353 Free PMC article.

4

Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.

Carli D, Resta N, Ferrero GB, Ruggieri M, Mussa A. Carli D, et al. Among authors: resta n. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):520-529. doi: 10.1002/ajmg.c.32021. Epub 2022 Dec 2. Am J Med Genet C Semin Med Genet. 2022. PMID: 36461154 Review.

5

Familial adenomatous polyposis: identification of a new frameshift mutation of the APC gene in an Italian family.

Stella A, Lonoce A, Resta N, Gentile M, Susca F, Mareni C, Brescia G, Origoni P, Montero MP, Guanti G. Stella A, et al. Among authors: resta n. Biochem Biophys Res Commun. 1992 May 15;184(3):1357-63. doi: 10.1016/s0006-291x(05)80032-4. Biochem Biophys Res Commun. 1992. PMID: 1350438

6

Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.

Stella A, Montera M, Resta N, Marchese C, Susca F, Gentile M, Romio L, Pilia S, Prete F, Mareni C, et al. Stella A, et al. Among authors: resta n. Hum Mol Genet. 1994 Sep;3(9):1687-8. doi: 10.1093/hmg/3.9.1687. Hum Mol Genet. 1994. PMID: 7833931 No abstract available.

7

Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP).

Stella A, Resta N, Gentile M, Susca F, Mareni C, Montera MP, Guanti G. Stella A, et al. Among authors: resta n. Am J Hum Genet. 1993 Nov;53(5):1031-7. Am J Hum Genet. 1993. PMID: 8213830 Free PMC article.

8

Infertility in carriers of two bisatellited marker chromosomes.

Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G. Gentile M, et al. Among authors: resta n. Clin Genet. 1993 Aug;44(2):71-5. doi: 10.1111/j.1399-0004.1993.tb03849.x. Clin Genet. 1993. PMID: 8275562

9

Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.

Marchese CA, Bertolino F, Ceccopieri B, Vanzetti M, Scaglione D, Locatelli L, Montera M, Romio L, Resta N, Stella A, Guanti G, Mareni C. Marchese CA, et al. Among authors: resta n. Scand J Gastroenterol. 1996 Sep;31(9):917-20. doi: 10.3109/00365529609052002. Scand J Gastroenterol. 1996. PMID: 8888441

10

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: resta n. Hum Genet. 1998 Jun;102(6):624-8. doi: 10.1007/s004390050752. Hum Genet. 1998. PMID: 9703421

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