Cariola F - Search Results

1

Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes.

Forte G, Cariola F, Buonadonna AL, Guglielmi AF, Manghisi A, De Marco K, Grossi V, Fasano C, Lepore Signorile M, Sanese P, Bagnulo R, Resta N, Disciglio V, Simone C. Forte G, et al. Among authors: cariola f. Genes Dis. 2022 Dec 27;10(4):1187-1189. doi: 10.1016/j.gendis.2022.11.017. eCollection 2023 Jul. Genes Dis. 2022. PMID: 37397536 Free PMC article. No abstract available.

2

Holt-Oram syndrome associated with anomalies of the feet.

Garavelli L, De Brasi D, Verri R, Guareschi E, Cariola F, Melis D, Calcagno G, Salvatore F, Unger S, Sebastio G, Albertini G, Rivieri F, Soli F, Superti-Furga A, Gentile M. Garavelli L, et al. Among authors: cariola f. Am J Med Genet A. 2008 May 1;146A(9):1185-9. doi: 10.1002/ajmg.a.32170. Am J Med Genet A. 2008. PMID: 18351627

3

Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III.

Piccione M, Niceta M, Antona V, Di Fiore A, Cariola F, Gentile M, Corsello G. Piccione M, et al. Among authors: cariola f. Am J Med Genet A. 2009 Aug;149A(8):1837-41. doi: 10.1002/ajmg.a.32952. Am J Med Genet A. 2009. PMID: 19610100 No abstract available.

4

Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13)t(13;13)(q10;q14).

Gentile M, Buonadonna AL, Cariola F, Fiorente P, Valenzano MC, Guanti G. Gentile M, et al. Among authors: cariola f. J Med Genet. 1999 Jan;36(1):77-82. J Med Genet. 1999. PMID: 9950374 Free PMC article.

5

Involvement of PTEN mutations in the genetic pathways of colorectal cancerogenesis.

Guanti G, Resta N, Simone C, Cariola F, Demma I, Fiorente P, Gentile M. Guanti G, et al. Among authors: cariola f. Hum Mol Genet. 2000 Jan 22;9(2):283-7. doi: 10.1093/hmg/9.2.283. Hum Mol Genet. 2000. PMID: 10607839

6

Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation.

Buonadonna AL, Cariola F, Caroppo E, Di Carlo A, Fiorente P, Valenzano MC, D'Amato G, Gentile M. Buonadonna AL, et al. Among authors: cariola f. Hum Reprod. 2002 Mar;17(3):564-9. doi: 10.1093/humrep/17.3.564. Hum Reprod. 2002. PMID: 11870104

7

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna AL. Gentile M, et al. Among authors: cariola f. Am J Med Genet A. 2004 Jun 1;127A(2):186-90. doi: 10.1002/ajmg.a.20672. Am J Med Genet A. 2004. PMID: 15108208

8

Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.

Gentile M, Volpe P, Cariola F, Di Carlo A, Marotta V, Buonadonna AL, Boscia FM. Gentile M, et al. Among authors: cariola f. Am J Med Genet A. 2005 Jul 1;136(1):66-70. doi: 10.1002/ajmg.a.30506. Am J Med Genet A. 2005. PMID: 15940687 Review.

9

FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II.

Gentile M, De Sanctis S, Cariola F, Spezzi T, Di Carlo A, Tontoli F, Lista F, Buonadonna AL. Gentile M, et al. Among authors: cariola f. Eur J Med Genet. 2005 Jan-Mar;48(1):33-9. doi: 10.1016/j.ejmg.2005.01.020. Epub 2005 Feb 1. Eur J Med Genet. 2005. PMID: 15953404

10

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication.

Margari L, Di Cosola ML, Buttiglione M, Pansini A, Buonadonna AL, Craig F, Cariola F, Petruzzelli MG, Gentile M. Margari L, et al. Among authors: cariola f. Am J Med Genet A. 2012 Jul;158A(7):1713-8. doi: 10.1002/ajmg.a.35400. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639464

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