Resta N - Search Results

1

A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.

Delvecchio M, Ortolani F, Palumbo O, Aloi C, Salina A, Susca FC, Palumbo P, Carella M, Resta N, Piccinno E. Delvecchio M, et al. Among authors: resta n. Int J Mol Sci. 2021 Jul 28;22(15):8082. doi: 10.3390/ijms22158082. Int J Mol Sci. 2021. PMID: 34360843 Free PMC article.

2

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

3

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.

4

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.

5

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

6

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. Hum Mutat. 2002 Jul;20(1):78-9. doi: 10.1002/humu.9046. Hum Mutat. 2002. PMID: 12112668

7

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. Acta Neuropathol. 2006 Jul;112(1):106-11. doi: 10.1007/s00401-006-0084-6. Epub 2006 May 30. Acta Neuropathol. 2006. PMID: 16733653

8

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

Resta N, Susca FC, Di Giacomo MC, Stella A, Bukvic N, Bagnulo R, Simone C, Guanti G. Resta N, et al. J Cell Physiol. 2006 Oct;209(1):67-73. doi: 10.1002/jcp.20708. J Cell Physiol. 2006. PMID: 16775838

9

Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age.

Di Giacomo MC, Susca FC, Resta N, Bukvic N, Vimercati A, Guanti G. Di Giacomo MC, et al. Among authors: resta n. Am J Med Genet A. 2007 Mar 1;143A(5):518-20. doi: 10.1002/ajmg.a.31515. Am J Med Genet A. 2007. PMID: 17163529 No abstract available.

10

SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome.

Bukvic N, Resta N, Bukvic D, Susca FC, Bagnulo R, Fanelli M, Guanti G. Bukvic N, et al. Among authors: resta n. Twin Res Hum Genet. 2007 Aug;10(4):655-7. doi: 10.1375/twin.10.4.655. Twin Res Hum Genet. 2007. PMID: 17708708 Free article.

In a previously published article (Resta et al., 2006) on Robert's syndrome in prenatal diagnosis, a case of a 36-year-old woman and her 36-year-old, nonconsanguineous husband were presented. ...It seems that the SCE frequency increased proportionally to the cell cycle inc …

In a previously published article (Resta et al., 2006) on Robert's syndrome in prenatal diagnosis, a case of a 36-year-old woman and …

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