Faravelli F - Search Results

1

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.

Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G. Pastorino L, et al. Among authors: faravelli f. Hum Mutat. 2005 Mar;25(3):322-3. doi: 10.1002/humu.9317. Hum Mutat. 2005. PMID: 15712338

2

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarrà GB. Pastorino L, et al. Among authors: faravelli f. Child Care Health Dev. 2005 May;31(3):351-4. doi: 10.1111/j.1365-2214.2005.00514.x. Child Care Health Dev. 2005. PMID: 15840155

3

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: faravelli f. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365

4

Cerebro-fronto-facial syndrome: report of a further case.

Forzano F, Faravelli F, Rocco MD. Forzano F, et al. Among authors: faravelli f. Clin Dysmorphol. 2004 Apr;13(2):121-122. Clin Dysmorphol. 2004. PMID: 15057132

5

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.

Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, Dagna Bricarelli F. Perroni L, et al. Among authors: faravelli f. Prenat Diagn. 2006 May;26(5):487-9. doi: 10.1002/pd.1440. Prenat Diagn. 2006. PMID: 16652396 No abstract available.

6

A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.

Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. Forzano F, et al. Among authors: faravelli f. Am J Med Genet A. 2007 Dec 1;143A(23):2815-20. doi: 10.1002/ajmg.a.32047. Am J Med Genet A. 2007. PMID: 17994563

7

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

Cecconi M, Forzano F, Rinaldi R, Cappellacci S, Grammatico P, Faravelli F, Dagna Bricarelli F, Di Maria E, Grasso M. Cecconi M, et al. Among authors: faravelli f. J Mol Diagn. 2008 May;10(3):272-5. doi: 10.2353/jmoldx.2008.070163. Epub 2008 Apr 10. J Mol Diagn. 2008. PMID: 18403614 Free PMC article.

8

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK. Cho SY, et al. Among authors: faravelli f. Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236923 Free PMC article.

9

Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

Forzano F, Faravelli F, Loy A, Di Rocco M. Forzano F, et al. Among authors: faravelli f. Am J Med Genet. 2002 Jul 22;111(1):68-70. doi: 10.1002/ajmg.10509. Am J Med Genet. 2002. PMID: 12124738

10

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families.

Ghiorzo P, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bernard L, Bonelli L, Borgonovo G, Bruno W, De Cian F, Decensi A, Filauro M, Faravelli F, Gozza A, Gargiulo S, Mariette F, Nasti S, Pastorino L, Queirolo P, Savarino V, Varesco L, Scarrà GB; Genoa Pancreatic Cancer Study Group. Ghiorzo P, et al. Among authors: faravelli f. J Med Genet. 2012 Mar;49(3):164-70. doi: 10.1136/jmedgenet-2011-100281. J Med Genet. 2012. PMID: 22368299

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