Faletra F - Search Results

1

Could the MED13 mutations manifest as a Kabuki-like syndrome?

De Nardi L, Faletra F, D'Adamo AP, Bianco AMR, Athanasakis E, Bruno I, Barbi E. De Nardi L, et al. Among authors: faletra f. Am J Med Genet A. 2021 Feb;185(2):584-590. doi: 10.1002/ajmg.a.61994. Epub 2020 Nov 30. Am J Med Genet A. 2021. PMID: 33258286

2

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation.

Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. Fabretto A, et al. Among authors: faletra f. Ophthalmic Genet. 2010 Jun;31(2):98-100. doi: 10.3109/13816811003620517. Ophthalmic Genet. 2010. PMID: 20450314

3

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.

Faletra F, Athanasakis E, Minen F, Fornasier F, Marchetti F, Gasparini P. Faletra F, et al. Ophthalmic Genet. 2011 Nov;32(4):256-8. doi: 10.3109/13816810.2011.587082. Epub 2011 Jun 14. Ophthalmic Genet. 2011. PMID: 21671750 No abstract available.

4

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.

Faletra F, D'Adamo AP, Santa Rocca M, Carrozzi M, Perrone MD, Pecile V, Gasparini P. Faletra F, et al. Am J Med Genet A. 2012 Feb;158A(2):461-4. doi: 10.1002/ajmg.a.34398. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140086 No abstract available.

5

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. Perrone MD, et al. Among authors: faletra f. Eur J Med Genet. 2012 Feb;55(2):117-9. doi: 10.1016/j.ejmg.2011.11.004. Epub 2011 Dec 2. Eur J Med Genet. 2012. PMID: 22186213

6

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

Faletra F, d'Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. Faletra F, et al. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):115-7. doi: 10.3109/13816810.2012.707273. Epub 2012 Jul 30. Ophthalmic Genet. 2013. PMID: 22846113

7

Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.

Athanasakis E, Biarnés X, Bonati MT, Gasparini P, Faletra F. Athanasakis E, et al. Among authors: faletra f. Mol Syndromol. 2012 Jun;3(1):21-24. doi: 10.1159/000337928. Epub 2012 Apr 11. Mol Syndromol. 2012. PMID: 22855651 Free PMC article.

8

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

Athanasakis E, Fabretto A, Faletra F, Mocenigo M, Morgan A, Gasparini P. Athanasakis E, et al. Among authors: faletra f. Mol Syndromol. 2012 Jun;3(1):30-33. doi: 10.1159/000338816. Epub 2012 May 16. Mol Syndromol. 2012. PMID: 22855652 Free PMC article.

9

A red baby should not be taken too lightly.

Faletra F, Bruno I, Berti I, Pastore S, Pirrone A, Tommasini A. Faletra F, et al. Acta Paediatr. 2012 Dec;101(12):e573-7. doi: 10.1111/apa.12018. Epub 2012 Sep 23. Acta Paediatr. 2012. PMID: 22946961

10

Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.

Faletra F, Berti I, Tommasini A, Pecile V, Cleva L, Alberini E, Bruno I, Gasparini P. Faletra F, et al. Dermatology. 2012;225(4):294-7. doi: 10.1159/000342884. Epub 2012 Oct 24. Dermatology. 2012. PMID: 23095783

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