Faravelli F - Search Results

1

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: faravelli 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.

2

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: faravelli 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

3

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. Among authors: faravelli f. 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

4

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: faravelli 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.

5

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

6

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

Striano P, Malacarne M, Cavani S, Pierluigi M, Rinaldi R, Cavaliere ML, Rinaldi MM, De Bernardo C, Coppola A, Pintaudi M, Gaggero R, Grammatico P, Striano S, Dallapiccola B, Zara F, Faravelli F. Striano P, et al. Among authors: faravelli f. Am J Med Genet A. 2006 Sep 15;140(18):1944-9. doi: 10.1002/ajmg.a.31435. Am J Med Genet A. 2006. PMID: 16906558

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

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: faravelli f. Clin Dysmorphol. 2012 Apr;21(2):74-76. doi: 10.1097/MCD.0b013e32834f6f1d. Clin Dysmorphol. 2012. PMID: 22192933 No abstract available.

9

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F. Giordano L, et al. Among authors: faravelli f. Pediatr Neurol. 2014 Apr;50(4):389-91. doi: 10.1016/j.pediatrneurol.2013.12.009. Epub 2013 Dec 14. Pediatr Neurol. 2014. PMID: 24486222

10

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: faravelli f. Front Genet. 2018 Nov 2;9:442. doi: 10.3389/fgene.2018.00442. eCollection 2018. Front Genet. 2018. PMID: 30450110 Free PMC article.

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