Briuglia S - Search Results

1

Report of a third family with Oliver syndrome.

Salpietro CD, Briuglia S, Bertuccio G, Rigoli L, Mingarelli R, Dallapiccola B. Salpietro CD, et al. Among authors: briuglia s. Am J Med Genet A. 2005 Dec 1;139A(2):159-61. doi: 10.1002/ajmg.a.30999. Am J Med Genet A. 2005. PMID: 16278897 No abstract available.

2

Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis.

Zuccarello D, Salpietro DC, Gangemi S, Toscano V, Merlino MV, Briuglia S, Bisignano G, Mangino M, Mingarelli R, Dallapiccola B. Zuccarello D, et al. Among authors: briuglia s. J Med Genet. 2002 Sep;39(9):671-5. doi: 10.1136/jmg.39.9.671. J Med Genet. 2002. PMID: 12205111 Free PMC article. No abstract available.

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

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.

6

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. Valente EM, et al. Among authors: briuglia s. Am J Hum Genet. 2003 Sep;73(3):663-70. doi: 10.1086/378241. Epub 2003 Aug 7. Am J Hum Genet. 2003. PMID: 12908130 Free PMC article.

7

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.

8

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.

9

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

10

Hallerman-Streiff syndrome: patient with decreased GH and insulin-like growth factor-1.

Damiano Salpietro C, Briuglia S, Valeria Merlino M, Piraino B, Valenzise M, Dallapiccola B. Damiano Salpietro C, et al. Among authors: briuglia s. Am J Med Genet A. 2004 Mar 1;125A(2):216-8. doi: 10.1002/ajmg.a.20399. Am J Med Genet A. 2004. PMID: 14981729 No abstract available.

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