Search Results - "Briuglia, S"

Gene-environment interaction in childhood asthma by Rigoli, L, Briuglia, S, Caimmi, S, Ferraú, V, Gallizzi, R, Leonardi, S, La Rosa, M, Salpietro, C

“…The importance of early life environmental influences on the etiology of asthma is implied by the observed geographic and temporal variation in the prevalence…”
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TLR2 and TLR4 gene polymorphisms and atopic dermatitis in Italian children: a multicenter study by Salpietro, C, Rigoli, L, Miraglia Del Giudice, M, Cuppari, C, Di Bella, C, Salpietro, A, Maiello, N, La Rosa, M, Marseglia, G L, Leonardi, S, Briuglia, S, Ciprandi, G

“…BACKGROUND Genetic factors have an important role in atopic dermatitis (AD) predisposition. Toll like receptor (TLR) are important mediators between…”
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LMNA gene mutation as a model of cardiometabolic dysfunction: From genetic analysis to treatment response by Chirico, V, Ferraù, V, Loddo, I, Briuglia, S, Amorini, M, Salpietro, V, Lacquaniti, A, Salpietro, C, Arrigo, T

“…Abstract Aim This report highlights the metabolic, endocrine and cardiovascular comorbidities in a case of familial partial lipodystrophy (FPLD), and also…”
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Upper Respiratory Tract Infection and Torticollis in Children by Salpietro, V, Polizzi, A, Granata, F, Briuglia, S, Mankad, K, Ruggieri, M

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Upper Respiratory Tract Infection and Torticollis in Children: Differential diagnosis of Grisel’s Syndrome by Salpietro, V., Polizzi, A., Granata, F., Briuglia, S., Mankad, K., Ruggieri, M.

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Cadmium concentration in maternal and cord blood and infant birth weight: a study on healthy non-smoking women by Salpietro, Carmelo D, Gangemi, Sebastiano, Minciullo, Paola L, Briuglia, Silvana, Merlino, Maria V, Stelitano, Annunziato, Cristani, Mariateresa, Trombetta, Domenico, Saija, Antonella

“…The aim of our study was to measure, at delivery, maternal and cord blood cadmium levels (by means of atomic absorption spectrometry) in 45 healthy non-smoking…”
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Molecular analysis of sequence variants in the Fcε receptor Iβ gene and IL-4 gene promoter in Italian atopic families by RIGOLI, L, DI BELLA, C, PROCOPIO, V, BARBERIO, G, BARBERI, I, CAMINITI, L, LA GRUTTA, S, BRIUGLIA, S, SALPIETRO, C. D, PAJNO, G. B

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Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis by Zuccarello, D, Salpietro, D C, Gangemi, S, Toscano, V, Merlino, M V, Briuglia, S, Bisignano, G, Mangino, M, Mingarelli, R, Dallapiccola, B

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A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1 by MANGINO, M, SALPIETRO, D. C, ZUCCARELLO, D, GANGEMI, S, RIGOLI, L, MERLINO, M. V, BRIUGLIA, S, BISIGNANO, G, MINGARELLI, R, DALLAPICCOLA, B

“…Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent…”
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Serum levels of malondialdehyde and 4-hydroxy-2,3-nonenal in patients affected by familial chronic nail candidiasis by Gangemi, S, Saija, A, Minciullo, P L, Tomaino, A, Cimino, F, Bisignano, G, Briuglia, S, Merlino, M V, Dallapiccola, B, Salpietro, D C

“…Familial chronic nail candidiasis (FCNC.MIM 607644) is a rare disorder characterized by early onset infections caused by different species of Candida and…”
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Protein carbonyl group content in patients affected by familiar chronic nail candidiasis by Gangemi, S, Saija, A, Tomaino, A, Cimino, F, Merendino, R A, Minciullo, P L, Briuglia, S, Merlino, M V, Dallapiccola, B, Ferlazzo, B, Salpietro, D C

“…Familiar chronic nail candidiasis (FCNC) is a rare disorder characterized by early-onset infections caused by different species of Candida, restricted to the…”
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Serum levels of interleukin-18 in splenectomized and nonsplenectomized thalassemic patients: preliminary considerations by Gangemi, S, Merendino, R A, Meo, A, Minciullo, P L, Briuglia, S, Merlino, M V, Rigoli, L, Tomasello, C, Salpietro, C D

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SUN-451 UNRAVELING THE ROLE OF GENETIC VARIANTS OF NPHS2 GENE by LONGHITANO, E., Gembillo, G., Zirino, F., Calabrese, V., Cernaro, V., Briuglia, S., Santoro, D.

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Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation by Valente, Enza Maria, Salpietro, Damiano Carmelo, Brancati, Francesco, Bertini, Enrico, Galluccio, Tiziana, Tortorella, Gaetano, Briuglia, Silvana, Dallapiccola, Bruno

“…Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a…”
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Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies by RIGOLI, Luciana, CHIMENZ, Roberto, DI BELLA, Chiara, CAVALLARO, Emanuela, CARUSO, Rosario, BRIUGLIA, Silvana, FEDE, Carmelo, SALPIETRO, Carmelo Damiano

“…Angiotensin I-converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital…”
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The almond milk: a new approach to the management of cow-milk allergy/intolerance in infants by Salpietro, C D, Gangemi, S, Briuglia, S, Meo, A, Merlino, M V, Muscolino, G, Bisignano, G, Trombetta, D, Saija, A

“…Elimination of the offending food is imperative in the management of children with cow-milk allergy/intolerance (CMA/CMI). Herein we report the result of…”
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Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay by Colosimo, Alessia, Guida, Valentina, Rigoli, Luciana, Di Bella, Chiara, De Luca, Alessandro, Briuglia, Silvana, Stuppia, Liborio, Carmelo Salpietro, Damiano, Dallapiccola, Bruno

“…Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical…”
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Cutis laxa in Kabuki make-up syndrome by Vaccaro, Mario, Salpietro, Damiano Carmelo, Briuglia, Silvana, Merlino, Maria Valeria, Guarneri, Fabrizio, Dallapiccola, Bruno

“…Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by…”
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A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting by SALPIETRO, Carmelo Damiano, BRIUGLIA, Silvana, MERLINO, Maria Valeria, DI BELLA, Chiara, RIGOLI, Luciana

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Report of a third family with Oliver syndrome by Salpietro, Carmelo Damiano, Briuglia, Silvana, Bertuccio, Graziella, Rigoli, Luciana, Mingarelli, Rita, Dallapiccola, Bruno

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