Faletra F - Search Results

1

A brain and heart connection: X-linked periventricular heterotopia.

Naviglio S, Bruno I, Zanus C, Faletra F, Ventura A. Naviglio S, et al. Among authors: faletra f. J Pediatr. 2015 Mar;166(3):776. doi: 10.1016/j.jpeds.2014.11.037. Epub 2014 Dec 31. J Pediatr. 2015. PMID: 25557968 No abstract available.

2

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.

3

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

4

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

5

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

6

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

7

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.

Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi-Vici C, Ventura A, Zhou Q, Stanley CA, Burlina A. Faletra F, et al. Gene. 2013 Mar 1;516(1):122-5. doi: 10.1016/j.gene.2012.12.055. Epub 2012 Dec 22. Gene. 2013. PMID: 23266803 Free PMC article.

8

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

Faletra F, Athanasakis E, Morgan A, Biarnés X, Fornasier F, Parini R, Furlan F, Boiani A, Maiorana A, Dionisi-Vici C, Giordano L, Burlina A, Ventura A, Gasparini P. Faletra F, et al. Gene. 2013 May 25;521(1):160-5. doi: 10.1016/j.gene.2013.03.021. Epub 2013 Mar 16. Gene. 2013. PMID: 23506826

9

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. Faletra F, et al. Am J Med Genet A. 2014 Jan;164A(1):42-7. doi: 10.1002/ajmg.a.36165. Epub 2013 Nov 22. Am J Med Genet A. 2014. PMID: 24273071

10

A girl with photosensitivity and hepatic steatosis.

Pavan M, Gortani G, Rubinato E, Faletra F, Pastore S, Ventura A. Pavan M, et al. Among authors: faletra f. J Pediatr. 2014 Jul;165(1):201-201.e1. doi: 10.1016/j.jpeds.2014.02.056. Epub 2014 Apr 3. J Pediatr. 2014. PMID: 24704299 No abstract available.

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