Forzano F - Search Results

1

The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.

Grasso M, Cecconi M, Boni S, Forzano F, Barbaresi M, Memo L, Perroni L, Faravelli F, Di Maria E. Grasso M, et al. Among authors: forzano f. Mol Cell Probes. 2010 Apr;24(2):107-9. doi: 10.1016/j.mcp.2009.10.006. Epub 2009 Oct 21. Mol Cell Probes. 2010. PMID: 19836446

2

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: forzano 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.

3

Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F. Cecconi M, et al. Among authors: forzano f. Am J Med Genet A. 2008 Dec 1;146A(23):3095-9. doi: 10.1002/ajmg.a.32568. Am J Med Genet A. 2008. PMID: 19006215 No abstract available.

4

The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment.

Cocchella A, Malacarne M, Forzano F, Marciano C, Pierluigi M, Perroni L, Faravelli F, Di Maria E. Cocchella A, et al. Among authors: forzano f. Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1342-6. doi: 10.1002/ajmg.b.31107. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20552675

5

19q13 microdeletion syndrome: Further refining the critical region.

Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F. Forzano F, et al. Eur J Med Genet. 2012 Jun;55(6-7):429-32. doi: 10.1016/j.ejmg.2012.03.002. Epub 2012 Apr 10. Eur J Med Genet. 2012. PMID: 22510526

6

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: forzano 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

7

Craniofacial characteristics of fragile X syndrome in mouse and man.

Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P. Heulens I, et al. Among authors: forzano f. Eur J Hum Genet. 2013 Aug;21(8):816-23. doi: 10.1038/ejhg.2012.265. Epub 2012 Dec 5. Eur J Hum Genet. 2013. PMID: 23211703 Free PMC article.

8

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene.

Fernández E, Gennaro E, Pirozzi F, Baldo C, Forzano F, Turolla L, Faravelli F, Gastaldo D, Coviello D, Grasso M, Bagni C. Fernández E, et al. Among authors: forzano f. Front Genet. 2018 Nov 2;9:442. doi: 10.3389/fgene.2018.00442. eCollection 2018. Front Genet. 2018. PMID: 30450110 Free PMC article.

9

A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development.

Accorsi P, Giordano L, Uliana V, Forzano F, Pinelli L, Olioso G, Zenker M, Di Maria E, Faravelli F. Accorsi P, et al. Among authors: forzano f. Clin Dysmorphol. 2012 Apr;21(2):74-76. doi: 10.1097/MCD.0b013e32834f6f1d. Clin Dysmorphol. 2012. PMID: 22192933 No abstract available.

10

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F. Mandrile G, et al. Among authors: forzano f. Eur J Med Genet. 2013 Apr;56(4):216-21. doi: 10.1016/j.ejmg.2013.01.005. Epub 2013 Jan 26. Eur J Med Genet. 2013. PMID: 23357683 Free article.

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