Bruno I - Search Results

1

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Bottega R, Cappellani S, Fabretto A, Spinelli AM, Severini GM, Aloisio M, Faleschini M, Athanasakis E, Bruno I, Faletra F, Pecile V. Bottega R, et al. Among authors: bruno i. Mol Genet Genomic Med. 2019 Mar;7(3):e546. doi: 10.1002/mgg3.546. Epub 2019 Jan 9. Mol Genet Genomic Med. 2019. PMID: 30628197 Free PMC article.

2

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: bruno i. 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

3

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. Among authors: bruno i. 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

4

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. Among authors: bruno i. Acta Paediatr. 2012 Dec;101(12):e573-7. doi: 10.1111/apa.12018. Epub 2012 Sep 23. Acta Paediatr. 2012. PMID: 22946961

5

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. Among authors: bruno i. Dermatology. 2012;225(4):294-7. doi: 10.1159/000342884. Epub 2012 Oct 24. Dermatology. 2012. PMID: 23095783

6

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. Among authors: bruno i. 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.

7

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. Among authors: bruno i. 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

8

"Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis.

Gortani G, Faletra F, Bruno I, Berti I, Ventura A. Gortani G, et al. Among authors: bruno i. J Pediatr. 2015 Feb;166(2):490-90.e1. doi: 10.1016/j.jpeds.2014.10.028. Epub 2014 Nov 27. J Pediatr. 2015. PMID: 25433905 No abstract available.

9

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: bruno i. 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.

10

When fingers point to the diagnosis.

Trombetta A, Magnolato A, Bruno I, Rabach I, Murru FM, Faletra F. Trombetta A, et al. Among authors: bruno i. Arch Dis Child. 2020 Nov;105(11):1117. doi: 10.1136/archdischild-2019-317514. Epub 2019 Aug 10. Arch Dis Child. 2020. PMID: 31401559 No abstract available.

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