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		题名	作者	年代	出处	被引量
	1	Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family显示文摘AIM: To present novel frameshift mutation c.31delC [p.L11X] in the MLH1 gene identified in an extended Bulgarian hereditary non-polyposis colorectal cancer (HNPCC) family and to analyze the molecular and clinical findings within the pedigree concerning the proposal of adequate individual prophylactic strategy for all mutation carriers. METHODS: The pedigree of the family consists of 42 members in four generations. Search for mutations in the MLH1 and hMSH2 genes was performed in the pro-band. After PCR amplification of all exons including flanking intronic regions, amplicons were directly sequenced. RESULTS: The mutation was found in nine from the thirteen pedigree members who signed informed consent to participate in the study. In three adenocarcinomas, microsatellite instability and lack of the MLH1 protein expression were detected. The only one tubulovillous adenoma analyzed was microsatellite stable and the MLH1 protein showed an intact staining. CONCLUSION: The newly described mutation c.31delC is HNPCC causative. Besides the typical clinical features of the syndrome, we found a specific pathologic manifestation such as moderate to high differentiated adenocarcinomas of the colon. One of the mutation carriers developed a benign giant cell soft tissue tumor. The primary tumor localizations were frequently extracolonic and detailed yearly gastrointestinal and gynecological examinations have been proposed to the mutation carriers. We emphasize the importance of including the HNPCC genetic counseling and testing as well in the following surveillance of all patients at risk in the services covered by the health insurance in Bulgaria.	Tanya Kirilova Kadiyska Radka Petrova Kaneva Dimitar Georgiev Nedin Alexandrina Borisova Alexandrova Antonina Todorova Gegova Stoyan Ganchev Lalchev Tatyana Christova Vanio Ivanov Mitev Juergen Horst Nadja Bogdanova Ivo Marinov Kremensky	2006	World Journal of Gastroenterology2006，12，48：	2
	2	Helicobacter pylori Releases a Factor(s) Inhibiting Cell Cycle Progression of Human Gastric Cell Lines by Affecting Cyclin E/cdk2 Kinase Activity and Rb Protein Phosphorylation through Enhanced p27 KIP1 Protein Expression显示文摘	Patrizia Sommi Monica Savio Lucia A. Stivala Claudia Scotti Paola Mignosi Ennio Prosperi Vanio Vannini Enrico Solcia	2002	Experimental Cell Research2002，，1：	1
	3	Liquid chromatography method for simultaneous analysis of amino acids and biogenic amines in biological fluids with simultaneous gradient of pH and acetonitrile显示文摘	Valentin Lozanov Bistra Benkova Lyudmila Mateva Stefan Petrov Elenko Popov Chavdar Slavov Vanio Mitev	2007	Journal of Chromatography B2007，，1：	1
	4	Intracellular localization of the cyclin-dependent kinase inhibitor p21CDKN1A-GFP fusion protein during cell cycle arrest显示文摘	Ornella Cazzalini Paola Perucca Federica Valsecchi Lucia A. Stivala Livia Bianchi Vanio Vannini Ennio Prosperi	2004	Histochemistry and Cell Biology2004，，5：	1

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