Briuglia S - Search Results

1

LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.

Chirico V, Ferraù V, Loddo I, Briuglia S, Amorini M, Salpietro V, Lacquaniti A, Salpietro C, Arrigo T. Chirico V, et al. Among authors: briuglia s. Diabetes Metab. 2014 Jun;40(3):224-8. doi: 10.1016/j.diabet.2013.12.008. Epub 2014 Jan 28. Diabetes Metab. 2014. PMID: 24485160

2

Autoimmune liver disease in Noonan Syndrome.

Loddo I, Romano C, Cutrupi MC, Sciveres M, Riva S, Salpietro A, Ferraù V, Gallizzi R, Briuglia S. Loddo I, et al. Among authors: briuglia s. Eur J Med Genet. 2015 Mar;58(3):188-90. doi: 10.1016/j.ejmg.2014.12.013. Epub 2015 Jan 13. Eur J Med Genet. 2015. PMID: 25595571

3

NGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.

Lacquaniti A, Chirico V, Donato V, Briuglia S, Cernaro V, Gallizzi R, Salpietro CD, Buemi M. Lacquaniti A, et al. Among authors: briuglia s. Ren Fail. 2012;34(4):495-8. doi: 10.3109/0886022X.2011.649677. Epub 2012 Jan 20. Ren Fail. 2012. PMID: 22260509

4

Gene-environment interaction in childhood asthma.

Rigoli L, Briuglia S, Caimmi S, Ferraú V, Gallizzi R, Leonardi S, La Rosa M, Salpietro C. Rigoli L, et al. Among authors: briuglia s. Int J Immunopathol Pharmacol. 2011 Oct;24(4 Suppl):41-7. doi: 10.1177/03946320110240S409. Int J Immunopathol Pharmacol. 2011. PMID: 22032786 Free article. Review.

5

Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype.

Leonardi S, Cuppari C, Manti S, Filippelli M, Parisi GF, Borgia F, Briuglia S, Cannavò P, Salpietro A, Arrigo T, Salpietro C. Leonardi S, et al. Among authors: briuglia s. Allergy Asthma Proc. 2015 Jan-Feb;36(1):74-81. doi: 10.2500/aap.2015.36.3808. Allergy Asthma Proc. 2015. PMID: 25562560

6

A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting.

Salpietro CD, Briuglia S, Merlino MV, Di Bella C, Rigoli L. Salpietro CD, et al. Among authors: briuglia s. Eur J Pediatr. 2003 Oct;162(10):727-8. doi: 10.1007/s00431-003-1280-1. Epub 2003 Aug 2. Eur J Pediatr. 2003. PMID: 12905015 No abstract available.

7

Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia.

Salpietro CD, Briuglia S, Cutrupi MC, Gallizzi R, Rigoli L, Dallapiccola B. Salpietro CD, et al. Among authors: briuglia s. Am J Med Genet A. 2009 Oct;149A(10):2270-3. doi: 10.1002/ajmg.a.33017. Am J Med Genet A. 2009. PMID: 19764024

8

Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families.

Rigoli L, Di Bella C, Procopio V, Barberio G, Barberi I, Caminiti L, La Grutta S, Briuglia S, Salpietro CD, Pajno GB. Rigoli L, et al. Among authors: briuglia s. Allergy. 2004 Feb;59(2):213-8. doi: 10.1046/j.1398-9995.2003.00385.x. Allergy. 2004. PMID: 14763936

9

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

Salpietro V, Ruggieri M, Mankad K, Di Rosa G, Granata F, Loddo I, Moschella E, Calabro MP, Capalbo A, Bernardini L, Novelli A, Polizzi A, Seidler DG, Arrigo T, Briuglia S. Salpietro V, et al. Among authors: briuglia s. Am J Med Genet A. 2015 Sep;167A(9):2042-51. doi: 10.1002/ajmg.a.37118. Epub 2015 May 1. Am J Med Genet A. 2015. PMID: 25940952

10

Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.

Amorini M, Romeo P, Bruno R, Galletti F, Di Bella C, Longo P, Briuglia S, Salpietro C, Rigoli L. Amorini M, et al. Among authors: briuglia s. Ann Hum Genet. 2015 Sep;79(5):341-349. doi: 10.1111/ahg.12120. Epub 2015 Jun 19. Ann Hum Genet. 2015. PMID: 26096904

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

69 results

Search Page