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| 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 | A retrospective analysis of patient satisfaction with immediate postmastectomy breast re-construction:comparison of th ree common procedures显示文摘 | Alexandrina S Thomas A Neil A | 2007 | PlastReconst Surg2007，119，6： | 1 |
| 3 | Effect of Mederma on Hypertrophic Scarring in the Rabbit Ear Model显示文摘 | Alexandrina S. Saulis Jon H. Mogford Thomas A. Mustoe | 2002 | Plastic and Reconstructive Surgery2002，，1： | 1 |
| 4 | Investigation of Self- Starting Capability of Vertical Axis Wind Turbines Using a Computational Fluid Dynamics Approach显示文摘 | Alexandrina Untaroiu Houston G Wood Paul E Allaire | 2011 | J Sol Energy Eng2011，133，04： | 1 |
| 5 | On the relation between the Kautsky effect (ch]orophyll a fluorescence induction ) and Photosystem II: Basics and applications of the OJIP fluorescence transient 显示文摘 | Alexandrina S Govindjee | 2011 | Journal of Photochemistry and Photobiology B: Biology2011，104，12： | 1 |
| 6 | On the relation between the Kautsky effect (chlorophyll a fluorescence induction) and Photosystem Ⅱ: Basics and applications of the OJIP fluorescence transient 显示文摘 | Alexandrina S Govindjee | 2011 | Journal of Photochemistry and Photobiology B: Biology2011，104，： | 1 |
| 7 | Computational Analysis of an Axial Flow Pediatric Ventricular Assist Device 显示文摘 | AmyL Throckmorton Alexandrina Untaroiu | 2004 | Artificial Organs2004，28，10： | 1 |
| 8 | A rare case of biventricular non-compaction associated with ventricular septal defect and descendent aortic stenosis in a young man显示文摘 | Alexandrina TC Serban B | 2008 | Eur J Echocardiogr2008，9，2： | 1 |
| 9 | Design and Transient Computational Fluid Dynamics Study of a Continuous Axial Flow Ventricular Assist Device显示文摘 | Xinwei Song Alexandrina Untaroiu | 2004 | ASAIO Journal2004，50，： | 1 |
| 10 | Computational analysis of an axial flow pediatric ventricular assist device显示文摘 | Amy L Throckmorton Alexandrina U | 2004 | Artificial Organs2004，28，10： | 1 |
| 11 | A new regu latory circuit in ribosomal protein operons: S2-mediated con trol of the rpsB-tsf expression in vivo显示文摘 | Leonid VA Alexandrina AL Ludmila ST | 2008 | RNA2008，14，9： | 1 |
| 12 | On the relation between the Kautsky effect (chlorophyll a fluorescence induction) and Photosystem II: Basics and applications of the OJIP fluorescence transient显示文摘 | Alexandrina Stirbet Govindjee | 2011 | Journal of Photochemistry & Photobiology B: Biology2011，，1： | 1 |
| 13 | The prevalence of malnutrition and the evolution of nutritional status in patients with moderate to severe forms of Crohn’s disease treated with Infliximab显示文摘 | Roxana Vadan Liliana Simona Gheorghe Alexandrina Constantinescu Cristian Gheorghe | 2010 | Clinical Nutrition2010，，1： | 1 |
| 14 | On the relation between the Kantsky effect ( chlorophyll a fluorescence induction ) and Photosystem II : Basics and applieations of the OJIP fluoreseenee transient 显示文摘 | Alexandrina S Govindjee | 2011 | Journal of Photochemistry and Photobiology B: Biology2011，104，12： | 1 |
| 15 | Promo ting effect of 5-azacytidine on the myogenic differentiation of bon marrow stromal cells显示文摘 | Alexandrina Burlacu Ana-Maria Rosca HoriaManiu | 2008 | European Journal ofCellBiology2008，8，3： | 1 |
| 16 | Diffusion curves : a vector representation for smooth-shaded images 显示文摘 | Alexandrina Orzan Adrien Bousseau Holger Winnemoller | 2008 | ACM Transactions on Graphics2008，27，3： | 1 |
| 17 | A retrospective analysis of patient satisfaction with immediate postmastectomy breast recon struction: comparison of three common procedures显示文摘 | Alexandrina S Thomas A Neil A | 2007 | Plast Reconst Surg2007，119，6： | 1 |
| 18 | Influence of lipase products on technological properties of the bread flour 显示文摘 | SIRBU ALEXANDRINA PSLARU V | 2005 | Agroalimentary Processes and Technologies2005，14，1： | 1 |
| 19 | Should mast cells be considered therapeutic targets in multiple sclerosis?显示文摘Mast cells are immune cells of the myeloid lineage that are found throughout the body,including the central nervous system.They perform many functions associated with innate and specific immunity,angiogenesis,and vascular homeostasis.Moreover,they have been implicated in a series of pathologies(e.g.,hypersensitivity reactions,tumors,and inflammatory disorders).In this review,we propose that this cell could be a relevant therapeutic target in multiple sclerosis,which is a central nervous system degenerative disease.To support this proposition,we describe the general biological properties of mast cells,their contribution to innate and specific immunity,and the participation of mast cells in the various stages of multiple sclerosis and experimental autoimmune encephalomyelitis development.The final part of this review is dedicated to an overview of the available mast cells immunomodulatory drugs and their activity on multiple sclerosis and experimental autoimmune encephalomyelitis,including our own experience related to the effect of ketotifen fumarate on experimental autoimmune encephalomyelitis evolution. | Karen Henriette Pinke Sofia Fernanda Goncalves Zorzella-Pezavento Vanessa Soares Lara Alexandrina Sartori | 2020 | Neural Regeneration Research2020，15，11： | 1 |
| 20 | Numerical and Experimental Analysis of an Axial Flow Left Ventricular Assist Device:The Influence of the Dif- fuser on Overall Pump Performance显示文摘 | Alexandrina U Amy L Sonna M | 2005 | Artificial Organs2005，29，7： | 1 |
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