Pedace L - Search Results

1

Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.

Pedace L, Majore S, Megiorni F, Binni F, De Bernardo C, Antigoni I, Preziosi N, Mazzilli MC, Grammatico P. Pedace L, et al. Cancer Genet Cytogenet. 2008 Apr 15;182(2):130-5. doi: 10.1016/j.cancergencyto.2008.01.009. Cancer Genet Cytogenet. 2008. PMID: 18406876

2

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.

Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M. Ferilli M, et al. Among authors: pedace l. Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163. Genes (Basel). 2022. PMID: 36421837 Free PMC article.

3

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

Pedace L, Castori M, Binni F, Pingi A, Grammatico B, Scommegna S, Majore S, Grammatico P. Pedace L, et al. Eur J Med Genet. 2009 Jul-Aug;52(4):273-6. doi: 10.1016/j.ejmg.2009.02.007. Epub 2009 Feb 28. Eur J Med Genet. 2009. PMID: 19254784

4

Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.

Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I, Torricelli F, Majore S, Grammatico P. Castori M, et al. Among authors: pedace l. Am J Med Genet A. 2009 Oct;149A(10):2193-9. doi: 10.1002/ajmg.a.32763. Am J Med Genet A. 2009. PMID: 19731360

5

Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.

Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Castori M, et al. Among authors: pedace l. Eur J Med Genet. 2010 May-Jun;53(3):149-52. doi: 10.1016/j.ejmg.2010.02.005. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219704

6

AXIN2 germline mutations are rare in familial melanoma.

Pedace L, Castiglia D, De Simone P, Castori M, De Luca N, Amantea A, Binni F, Majore S, Cozzolino AM, De Bernardo C, Zambruno G, Catricalà C, Grammatico P. Pedace L, et al. Genes Chromosomes Cancer. 2011 May;50(5):370-3. doi: 10.1002/gcc.20855. Epub 2011 Feb 3. Genes Chromosomes Cancer. 2011. PMID: 21294210 No abstract available.

7

Molecular characterization of 11 Italian patients with Darier disease.

Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P. Pedace L, et al. Eur J Dermatol. 2011 May-Jun;21(3):334-8. doi: 10.1684/ejd.2011.1339. Eur J Dermatol. 2011. PMID: 21527373

8

Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.

Pedace L, De Simone P, Castori M, Sperduti I, Silipo V, Eibenschutz L, De Bernardo C, Buccini P, Moscarella E, Panetta C, Ferrari A, Grammatico P, Catricalà C. Pedace L, et al. Cancer Epidemiol. 2011 Dec;35(6):e116-20. doi: 10.1016/j.canep.2011.07.007. Epub 2011 Sep 3. Cancer Epidemiol. 2011. PMID: 21893440

9

Analysis of the miR-34a locus in 62 patients with familial cutaneous melanoma negative for CDKN2A/CDK4 screening.

Cozzolino AM, Pedace L, Castori M, De Simone P, Preziosi N, Sperduti I, Panetta C, Mogini V, De Bernardo C, Morrone A, Catricalà C, Grammatico P. Cozzolino AM, et al. Among authors: pedace l. Fam Cancer. 2012 Jun;11(2):201-8. doi: 10.1007/s10689-011-9502-6. Fam Cancer. 2012. PMID: 22198089

10

Comedonal Darier disease: report of 2 cases.

Lora V, Cota C, Grammatico P, Pedace L, Kerl H, Cerroni L. Lora V, et al. Among authors: pedace l. J Am Acad Dermatol. 2013 Dec;69(6):e307-9. doi: 10.1016/j.jaad.2013.08.035. J Am Acad Dermatol. 2013. PMID: 24238191 No abstract available.

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