Resta N - 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: resta n. 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

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

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).

Reynolds G, Cardaropoli S, Carli D, Luca M, Gazzin A, Coppo P, La Selva R, Piglionica M, Bagnulo R, Turchiano A, Ranieri C, Resta N, Mussa A. Reynolds G, et al. Among authors: resta n. Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26. Eur J Hum Genet. 2023. PMID: 37365400

4

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

5

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.

6

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

7

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

8

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

9

Nine novel APC mutations in Italian FAP patients.

Resta N, Stella A, Susca F, Montera M, Gentile M, Cariola F, Prete F, Tenconi R, Tibiletti MG, Logrieco G, Mattina T, Andriulli G, Caruso ML, Fiorente P, Russo S, Caputi-Jambrenghi O, Mareni C, Guanti G. Resta N, et al. Hum Mutat. 2001 May;17(5):434-5. doi: 10.1002/humu.1125. Hum Mutat. 2001. PMID: 11317365

10

A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family.

Montera M, Piaggio F, Marchese C, Gismondi V, Stella A, Resta N, Varesco L, Guanti G, Mareni C. Montera M, et al. Among authors: resta n. J Med Genet. 2001 Dec;38(12):863-7. doi: 10.1136/jmg.38.12.863. J Med Genet. 2001. PMID: 11768390 Free PMC article. No abstract available.

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