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8篇 您的检索式:作者名="Campanozzi"
    题名 作者 年代 出处 被引量
1Gastric electrical dysrhythmias and delayed gastric emptying in gastroesophageal reflux disease 显示文摘 Salvia G Borrelli O Ciccimarra E Az-Zeqeh N Rapagiolo S Minella R Campanozzi A Rizzo G 1997Am J Gastroenterol1997,92,7:1
2Effects of omeprozole on mechanisms of gastroesophageal reflux in childhood 显示文摘 Minella R Campanozzi A Salvia G Borrelli O Ciccimarra E Emiliano M 1997Dig Dis Sci1997,42,2:1
3Indications to Upper Gastrointestinal Endoscopy in Children With Dyspepsia显示文摘G Guariso A Meneghel L Visonà Dalla Pozza C Romano L Dall?Oglio G Lombardi S Conte M Calacoci A Campanozzi C Nichetti S Piovan L Zancan P Facchin 2010Journal of Pediatric Gastroenterology and Nutrition2010,,5:1
4Effects of omeprazole on mechanisms of gastroesophageal reflux in childhood显示文摘 Minella R Campanozzi A 1997Dig Dis Sci1997,42,:1
5Population based strategy for dietary salt intake reduction:Italian initiatives in the European framework显示文摘Strazzullo P Cairella G Campanozzi A 2012Nutr Metab Cardiovasc Dis2012,22,3:1
6Usefulness of the measurement of azathioprine metabolites in the assess-ment of non-adherence显示文摘Stocco G Londero M Campanozzi A 2010Journal of Crohn’s and Colitis2010,,4:1
7Family- ori- ented and family- centered care in pediatrics显示文摘Pettoello- Mantovani M Campanozzi A Maiuri L 2009Ital J Pediatr2009,35,1:1
8Genetic analysis of Italian patients with congenital tufting enteropathy显示文摘Background:Congenital tufting enteropathy(CTE),an inherited autosomal recessive rare disease,is a severe diarrhea of infancy which is clinically characterized by absence of infl ammation and presence of intestinal villous atrophy.Mutations in the EpCAM gene were identified to cause CTE.Recent cases of syndromic tufting enteropathy harboring the SPINT2(19q13.2)mutation were described.Methods:Four CTE Italian patients were clinically and immunohistochemically characterized.Direct DNA sequencing of EpCAM and SPINT2 genes was performed.Results:All patients were of Italian origin.Three different mutations were detected(p.Asp219Metfs*15,Tyr186Phefs*6 and p.Ile146Asn)in the EpCAM gene;one of them is novel(p.Ile146Asn).Two patients(P1 and P2)showed compound heterozygosity revealing two mutations in separate alleles.A third patient(P3)was heterozygous for only one novel EpCAM missense mutation(p.Ile146Asn).In a syndromic patient(P4),no deleterious EpCAM mutation was found.Additional SPINT2 mutational analysis was performed.P4 showed a homozygous SPINT2 mutation(p.Y163C).No SPINT2 mutation was found in P3.CLDN7 was also evaluated as a candidate gene by mutational screening in P3 but no mutation was identifi ed.Conclusions:This study presented a molecular characterization of CTE Italian patients,and identified three mutations in the EpCAM gene and one in the SPINT2 gene.One of EpCAM mutations was novel,therefore increasing the mutational spectrum of allelic variants of the EpCAM gene.Molecular analysis of the SPINT2 gene also allowed us to identify a SPINT2 substitution mutation(c.488A>G)recently found to be associated with syndromic CTE subjects.Maria d'Apolito Daniela Pisanelli Flavio Faletra Ida Giardino Maddalena Gigante Massimo Pettoello-Mantovani Olivier Goulet Paolo Gasparini Angelo Campanozzi 2016World Journal of Pediatrics2016,12,2:0
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