Rigoli L - 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: rigoli l. 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

Mitochondrial DNA mutation at np 3243 in a family with maternally inherited diabetes mellitus.

Rigoli L, Salpietro DC, Caruso RA, Chiarenza A, Barberi I. Rigoli L, et al. Acta Diabetol. 1999 Sep;36(3):163-7. doi: 10.1007/s005920050161. Acta Diabetol. 1999. PMID: 10664322

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: rigoli l. 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: rigoli l. 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: rigoli l. 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: rigoli l. Acta Haematol. 2003;110(1):45-7. doi: 10.1159/000072416. Acta Haematol. 2003. PMID: 12975559 No abstract available.

7

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. Allergy. 2004 Feb;59(2):213-8. doi: 10.1046/j.1398-9995.2003.00385.x. Allergy. 2004. PMID: 14763936

8

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. 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

9

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: rigoli l. 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.

10

Identification of alpha-thalassemia mutations in subjects from Eastern Sicily (Italy) with abnormal hematological indices and normal Hb A2.

Di Bella C, Salpietro C, La Rosa M, Cuppari C, Piraino B, Cutri MR, Rigoli L. Di Bella C, et al. Among authors: rigoli l. Ann Hematol. 2006 Dec;85(12):829-31. doi: 10.1007/s00277-006-0165-6. Epub 2006 Sep 2. Ann Hematol. 2006. PMID: 16951927

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