Faletra F - Search Results

1

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: faletra f. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.

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

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature.

Faletra F, Devescovi R, Pecile V, Fabretto A, Carrozzi M, Gasparini P. Faletra F, et al. J Appl Genet. 2011 Feb;52(1):77-80. doi: 10.1007/s13353-010-0004-2. Epub 2010 Nov 3. J Appl Genet. 2011. PMID: 21107783 No abstract available.

4

Delayed diagnosis of glycogen storage disease type III.

Minen F, Cont G, De Cunto A, Martelossi S, Ventura A, Maggiore G, Faletra F, Gasparini P, Cassandrini D. Minen F, et al. Among authors: faletra f. J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):122-4. doi: 10.1097/MPG.0b013e318228d806. J Pediatr Gastroenterol Nutr. 2012. PMID: 21691223 No abstract available.

5

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

Rocca MS, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Rocca MS, et al. Among authors: faletra f. Gene. 2012 Jan 15;492(1):315-8. doi: 10.1016/j.gene.2011.10.035. Epub 2011 Oct 28. Gene. 2012. PMID: 22062632

6

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.

7

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

8

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.

9

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.

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 Free article.

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