Forzano F - Search Results

1

Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders.

Cogliati F, Forzano F, Russo S. Cogliati F, et al. Among authors: forzano f. Front Neurol. 2021 Jul 22;12:711288. doi: 10.3389/fneur.2021.711288. eCollection 2021. Front Neurol. 2021. PMID: 34367058 Free PMC article. No abstract available.

2

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.

3

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.

Magini P, Marco-Marin C, Escamilla-Honrubia JM, Martinelli D, Dionisi-Vici C, Faravelli F, Forzano F, Seri M, Rubio V, Panza E. Magini P, et al. Among authors: forzano f. Ann Clin Transl Neurol. 2019 Aug;6(8):1533-1540. doi: 10.1002/acn3.50821. Epub 2019 Jul 19. Ann Clin Transl Neurol. 2019. PMID: 31402623 Free PMC article.

4

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.

Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. Pirozzi F, et al. Among authors: forzano f. Brain. 2022 Apr 29;145(3):925-938. doi: 10.1093/brain/awab376. Brain. 2022. PMID: 35355055 Free PMC article.

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. Am J Med Genet. 2002 Jul 22;111(1):68-70. doi: 10.1002/ajmg.10509. Am J Med Genet. 2002. PMID: 12124738

6

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

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

7

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

8

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: forzano 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

9

Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.

Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F. Viassolo V, et al. Among authors: forzano f. Prenat Diagn. 2006 Nov;26(11):1081-3. doi: 10.1002/pd.1565. Prenat Diagn. 2006. PMID: 16981219

10

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. 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

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