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12篇 您的检索式:作者名="Pisanelli"
    题名 作者 年代 出处 被引量
1An overview of the ON- IONS project: applying ontologies to integration of medical terminolo- gies显示文摘GANGEMI A PISANELLI D M STEVE G 1999Data & Knowledge Engineering1999,31,2:1
2An Overview of the ON- IONS Project: Applying Ontologies to the Integration of Medical Terminologies显示文摘Gangemi A Pisanelli D M Steve G 1999Data & Knowledge Engineering1999,31,2:1
3Heterologous expression of an Agaricus meleagris pyranose dehydrogenase-encoding gene in Aspergillus spp. and characterization of the recombinant enzyme显示文摘Ines Pisanelli Magdalena Kujawa Doris Gschnitzer Oliver Spadiut Bernhard Seiboth Clemens Peterbauer 2010Applied Microbiology and Biotechnology2010,,2:1
4Ph{rsphorylation of the cabin kinase 2 domain of B-50 ( GAP-43 ) in rat cortical growth cones显示文摘Edgar MA Pisanelli P DeWit M 1997J Neurohem1997,69,5:1
5Unanchored K48-Linked Polyubiquitin Synthesized by the E3-Ubiquitin Ligase TRIM6 Stimulates the Interferon-IKKε Kinase - Mediated Antiviral Response显示文摘Ricardo Rajsbaum Gijs A. Versteeg Sonja Schmid Ana M. Maestre Alan Belicha-Villanueva Carles Martínez-Romero Jenish R. Patel Juliet Morrison Giuseppe Pisanelli Lisa Miorin Maudry Laurent-Rolle Hong M. Moulton David A. Stein Ana Fernandez-Sesma Benjamin R. 2014Immunity2014,,:1
6Comparing fibrin sealant with staples for mesh fixation in laparoscopic transabdominal hernia repair: a case control-study 显示文摘Ceecarelli G Caseiola L Pisanelli MC 2008Surg Endosc2008,22,3:1
7Comparingfibrin sealant with staples for mesh fixation in laparoseopie transabdominal hernia repair : a case control study 显示文摘Ceccarelli G CasciolaL Pisanelli MC 2008Surg Endosc2008,22,3:1
8Development of an electronic nose for fire detection显示文摘Scorsone E Pisanelli A M Persaud K C 2006Sensors and Actua- tors B--Chemical2006,116,12:1
9Communication during handover in the pre-hospital/hospital interface in Italy:from evaluation to implementation of multidisciplinary training through high-fidelity simulation显示文摘Dojmi Di Delupis F Pisanelli P Di Luccio G 0,,:1
10The case of heart failure 显示文摘Eccher C Purin B Pisanelli DM 2006Comput Biol Med2006,36,78:1
11An overview of the ONIONS project: Applying ontologies to the integration of medical terminologies显示文摘Gangemi A Pisanelli D M Steve G 1999Data and Knowledge Engineering1999,31,2:1
12Genetic 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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