Briuglia S - Search Results

1

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.

2

Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women.

Salpietro CD, Gangemi S, Minciullo PL, Briuglia S, Merlino MV, Stelitano A, Cristani M, Trombetta D, Saija A. Salpietro CD, et al. Among authors: briuglia s. J Perinat Med. 2002;30(5):395-9. doi: 10.1515/JPM.2002.061. J Perinat Med. 2002. PMID: 12442603

3

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

Colosimo A, Guida V, Rigoli L, Di Bella C, De Luca A, Briuglia S, Stuppia L, Salpietro DC, Dallapiccola B. Colosimo A, et al. Among authors: briuglia s. Hum Mutat. 2003 Jun;21(6):622-9. doi: 10.1002/humu.10215. Hum Mutat. 2003. PMID: 12754709

4

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1.

Mangino M, Salpietro DC, Zuccarello D, Gangemi S, Rigoli L, Merlino MV, Briuglia S, Bisignano G, Mingarelli R, Dallapiccola B. Mangino M, et al. Among authors: briuglia s. Eur J Hum Genet. 2003 Jun;11(6):433-6. doi: 10.1038/sj.ejhg.5200985. Eur J Hum Genet. 2003. PMID: 12774035

5

Confirmation of Nablus mask-like facial syndrome.

Salpietro CD, Briuglia S, Rigoli L, Merlino MV, Dallapiccola B. Salpietro CD, et al. Among authors: briuglia s. Am J Med Genet A. 2003 Sep 1;121A(3):283-5. doi: 10.1002/ajmg.a.20280. Am J Med Genet A. 2003. PMID: 12923873 No abstract available.

6

Serum levels of interleukin-18 in splenectomized and nonsplenectomized thalassemic patients: preliminary considerations.

Gangemi S, Merendino RA, Meo A, Minciullo PL, Briuglia S, Merlino MV, Rigoli L, Tomasello C, Salpietro CD. Gangemi S, et al. Among authors: briuglia s. Acta Haematol. 2003;110(1):45-7. doi: 10.1159/000072416. Acta Haematol. 2003. PMID: 12975559 No abstract available.

7

Protein carbonyl group content in patients affected by familiar chronic nail candidiasis.

Gangemi S, Saija A, Tomaino A, Cimino F, Merendino RA, Minciullo PL, Briuglia S, Merlino MV, Dallapiccola B, Ferlazzo B, Salpietro DC. Gangemi S, et al. Among authors: briuglia s. Mediators Inflamm. 2003 Aug;12(4):247-9. doi: 10.1080/09629350310001599693. Mediators Inflamm. 2003. PMID: 14514476 Free PMC article.

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

Disomy of distal Xq in males: case report and overview.

Novelli A, Bernardini L, Salpietro DC, Briuglia S, Merlino MV, Mingarelli R, Dallapiccola B. Novelli A, et al. Among authors: briuglia s. Am J Med Genet A. 2004 Jul 15;128A(2):165-9. doi: 10.1002/ajmg.a.30088. Am J Med Genet A. 2004. PMID: 15214009

10

Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies.

Rigoli L, Chimenz R, di Bella C, Cavallaro E, Caruso R, Briuglia S, Fede C, Salpietro CD. Rigoli L, et al. Among authors: briuglia s. Pediatr Res. 2004 Dec;56(6):988-93. doi: 10.1203/01.PDR.0000145252.89427.9E. Epub 2004 Oct 6. Pediatr Res. 2004. PMID: 15470205

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