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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	Measurement of endometrial volume and endometrial thickness for assessment of endometrial receptivity in assisted reproductive techniques 显示文摘	Kovachev E Ganchev ZH Chemeva S	2005	Akush Ginekol2005，442，：	1
3	Capillary mechanisms in membrane emulsification: oil- in-water emulsions stabilized by Tween 20 and milk proteins显示文摘	Christov N C Ganchev D N Vassileva N D	2002	Colloid Surf B2002，209，：	1
4	Capillary mechanisms in membrane emulsification:oil-inwater emulsions stabilized by Tween 20 and milk proteins显示文摘	Christov N C Ganchev D N Vassileva N D	2002	Colloid Surf B2002，209，：	1
5	Fuzzy PIDcontrol of nonlinear plants显示文摘	Michal Petrov Ivan Ganchev Albena Taneva	2002	Intelligent System2002，，9：	1
6	Influence of the enzyme modification on the dyeability of wool fibers 显示文摘	Lukanova V Ganchev V	2007	Tekstill Obleklo2007，，10：	1
7	The peptide antibiotic Clavanin A interacts strongly and specifically with lipid bilayers 显示文摘	Van Kan EJM Ganchev DN Snel MM E	2003	Biochemistry2003，42，11：	1
8	Phonetic segmentation ofemotional speech with HMM-based methods显示文摘	MPORAS I GANCHEV T FAKOTAKIS N	2010	International Jour-nal of Pattern Recognition and Artificial Intelligence2010，24，7：	1
9	Implementation and Deployment of an Intelligent Framework for Utilization within an InfoS- ration Environment 显示文摘	Zhanlin Ji Damien Meere Ivan Ganchev et at	2012	Journal of software2012，7，5：	1
10	Automatic acoustic identification of singing insects显示文摘	Ganchev T Potamitis I		0，，04：	1
11	Influence of hydro- thermal protected soybean meal on milk yield and composi- tion of milk from grazing sheep显示文摘	Dimova N Mihaylova M Ganchev G	2012	Animal studies & Vet-erinarymedicineVolume II Number2012，5，：	1
12	HPV preva lence and type distribution in women with normal or ab- normal Pap smear in Bulgaria显示文摘	Grozdanov P Zlatkov V Ganchev G	2014	J Med Virol2014，86，11：	1
13	Preparation and structure of annealed CuInSe2 electrodeposited films显示文摘	Tzvetkova E Stratieva N Ganchev M	1997	Thin Solid Films1997，311，：	1
14	Role of betaine as foam booster in the presence of silicone oil drops 显示文摘	BASHEVA E S GANCHEV D DENKOV N D	2000	Langmuir2000，16，：	1
15	A study of heat transfer to a falling fluid film at a vertical surface显示文摘	Ganchev B G Koglov V M Lozovetskiy V V	1972	Heat Transfer-Soviet Research1972，，4：	1
16	Measurement of endometrial volume and endometrial thickness for assessment of endometrial receptivity in assisted reproductive techniques显示文摘	Kovachev E Ganchev ZH Chemeva S	2005	Aknsh Ginekol2005，44，2：	1
17	显示文摘	Christov N C Ganchev D N	1997	Colloids and surfaces A1997，，128：	1
18	Investigation of the electrodeposition process in the Cu - In - Se system 显示文摘	Ganchev M G Kochev K D	1993	Solar Energy Materials and Solar Cells1993，31，：	1
19	Electrodeposition of Gu-In-Ga thin metal films for Cu (In, Ga)Se2 based solar cells显示文摘	Ganchev Kois M Kaelin M	2008	Thin Solid Films2008，516，18：	1
20	Prevention of cigarette smoke-induced lung tumors in mice by budesonide,phenethyl isothiocyanate,and N-acetylcysteine显示文摘	Balansky R Ganchev G Iltcheva M		0，，05：	1

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