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819 Newest Publications of de Gruyter

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Low expression of human β-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet

19-03-2010 | Mariano Intrieri; Assunta Rinaldi; Olga Scudiero; Giovanni Autiero; Giuseppe Castaldo; Gerardo Nardone, Clinical Chemistry , 2010

Abstract Background: Human β-defensins (hBDs) are small cationic, widely expressed proteins involved in innate immunity that exert strong bactericidal activity toward various pathogens. However, the role of hBDs in various diseases to which bacterial infection add severity, as it is in celiac ...

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FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome

19-03-2010 | Wei-De Lin; I-Ching Chou; Ni-Chung Lee; Chung-Hsing Wang; Wuh-Liang Hwu; Shuan-Pei Lin; Mei-Chyn Chao; Yushin ..., Clinical Chemistry , 2010

Abstract Background: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant developmental disorder that includes an eyelid malformation associated with (type I) or without (type II) premature ovarian failure (POF). Mutations in the forkhead transcription factor 2 ...

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Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions

19-03-2010 | Yongjun Luo; Sha Tang; Wenxiang Gao; Li Chen; Xiaohong Yang; Taosheng Huang; Yuqi Gao; Yongjun Luo; Wenxiang ..., Clinical Chemistry , 2010

Abstract Background: The identification of human mitochondrial DNA (mtDNA) sequence variations, especially single nucleotide polymorphisms (SNPs), is important for many applications. The PCR-ligase detection reaction (LDR) method can reduce false-positives and eliminate the need for both post-PCR ...

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Performance evaluation of the Abbott RealTime HCV Genotype II for hepatitis C virus genotyping

19-03-2010 | Yong-Hak Sohn; Sun-Young Ko; Myeong Hee Kim; Heung-Bum Oh, Clinical Chemistry , 2010

Abstract Background: The Abbott RealTime hepatitis C virus (HCV) Genotype II (Abbott Molecular Inc.) for HCV genotyping, which uses real-time PCR technology, has recently been developed. Methods: Accuracy and sensitivity of detection were assessed using the HCV RNA PHW202 performance panel ...

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Assessment of critical values policies in Italian institutions: comparison with the US situation

19-03-2010 | Elisa Piva; Laura Sciacovelli; Michael Laposata; Mario Plebani, Clinical Chemistry , 2010

Abstract Background: Critical value reporting is considered an essential tool to ensure the quality of medical laboratory services. Important issues include defining cut-off values, assessing responsibility for communication and adopting information technology solutions to improve notification. ...

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Decision criteria for rational selection of homogeneous genotyping platforms for pharmacogenomics testing in clinical diagnostics

19-03-2010 | Raffaele Di Francia,; Ferdinando Frigeri,; Massimiliano Berretta,; Erika Cecchin,; Claudio Orlando,; Antonio P ..., Clinical Chemistry , 2010

Abstract Background: Genotyping is crucial for the identification of genetic markers underlying the development of neoplastic diseases and for determining individual variations in response to specific drugs. Technologies which can accurately identify genetic polymorphisms will dramatically affect ...

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State of the art in therapeutic drug monitoring

19-03-2010 | Elena Llorente Fernández; Laura Parés; Iratxe Ajuria; Fernando Bandres; Bartomeu Castanyer; Francesc ..., Clinical Chemistry , 2010

Abstract Therapeutic drug monitoring (TDM) is a multidisciplinary activity. Because laboratory reports are part of the patient's chart, some clinical information is required. In order to guarantee quality and safety, an increasing number of TDM departments have implemented a quality management ...

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Improving the post-analytical phase

19-03-2010 | Mario Plebani; Giuseppe Lippi, Clinical Chemistry , 2010

Clinical Chemistry and Laboratory Medicine, Volume 48, Issue 4, Page 435-436, April 2010.

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Molecular biology and genetics in clinical chemistry and laboratory medicine

19-03-2010 | John B. Whitfield, Clinical Chemistry , 2010

Clinical Chemistry and Laboratory Medicine, Volume 48, Issue 4, Page 431-434, April 2010.

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