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17篇 您的检索式：作者名="EDITH E"

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		题名	作者	年代	出处	被引量
	1	Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families:Implications for genetic testing显示文摘AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds were tested for mutations using conformation sensitive gel electrophoreses, direct sequencing and also screening for genomic rearrangements applying multiplex ligation-dependent probe amplifi cation (MLPA). RESULTS: Eighteen germline mutations (50%) were identifi ed, 9 in MLH1 and 9 in MSH2. Sixteen of these sequence alterations were considered pathogenic, the remaining two were non-conservative missense alterations occurring at highly conserved functional motifs. The majority of the defi nite pathogenic mutations (81%, 13/16) were found in families fulfilling the stringent Amsterdam Ⅰ/Ⅱ criteria, including three rearrangements revealed by MLPA (two in MSH2 and one in MLH1). However, in three out of sixteen HNPCC-suspected families (19%), a disease-causing alteration could be revealed. Furthermore, nine mutations described here are novel, and none of the sequence changes were found in more than one family.CONCLUSION: Our study describes for the f irst time the prevalence and spectrum of germline mismatch repair gene mutations in Hungarian HNPCC and suspected-HNPCC families. The results presented here suggest that clinical selection criteria should be relaxed and detection of genomic rearrangements should be included in genetic screening in this population.	Janos Papp Marietta E Kovacs Edith Olah	2007	World Journal of Gastroenterology2007，13，19：	9
	2	An energetic orphan in an endocrine tissue: A revised perspective of the function of estrogen receptor‐related receptor alpha in bone and cartilage显示文摘	Edith Bonnelye Jane E Aubin	2013	J Bone Miner Res2013，，2：	1
	3	Role of oxidative stress and nitric oxide in atherothrombosis 显示文摘	Edith Lubos Diane E Handy Joseph Loscalzo	2008	Front Biosci2008，13，：	1
	4	Special issue on computational social choice 显示文摘	EDITH E JEROME L	2011	Autonomous Agents and Multi-Agent Systems2011，22，1：	1
	5	Role of oxidative stress and nitric oxide in atherothrombosis显示文摘	Edith Lubos Diane E Handy Joseph Loscalzo	2008	Front Biosci2008，，13：	1
	6	Goal programming decision support system for muhiobjective operation of reservoir systems显示文摘	Elizabeth A E Timothy M Edith Z	2001	Journal of Water Resources Planning and Management2001，127，2：	1
	7	Videofluoroscopic assessment of patients with dysphagia显示文摘	Edith E Wolfgang S Ewald S	2002	Am J Roentgennol2002，178，：	1
	8	Combined effects of precipitation and hitrogen deposition on native and invasive winter annual production in California deserts显示文摘	Leela E R Edith B A	2010	Oecologia2010，162，：	1
	9	Effects of elevated nitrogen and exoticplant invasion on soil seed bank composition in Joshua Tree Na-tional Park 显示文摘	Heather E S Edith B A	2012	Plant Ecology2012，213，8：	1
	10	Thrombospondin-2 polymorphism is associated with a reduced risk of premature myocardial infarction显示文摘	Boekholdt SM Mieke T Ron JP Marc E Jolanda B Edith F	2002	Arterioscler Thromb Vasc Biol2002，22，12：	1
	11	Videofluoroscopic Assessment of patients with dysphagia:pharyngeal retention is a predictive factor for aspiration显示文摘	Wolfgang S Ewald S	2002	A JR2002，178，：	1
	12	Digital radiography of the chest:detector techniques and performance parameters显示文摘	Cornelia S P Martin U Edith E	2003	J Thorac Imaging2003，18，3：	1
	13	Bile acids mobilise internal Ca^2+ independently of external Ca^2+ in rat hepatocytes显示文摘	Brigitte B I Edith D Serge E	1990	Eur J Biochem1990，190，3：	1
	14	Colonization of Arabidopsis Roots by Trichoderrna atroviride Promotes Growth and Enhances Systemic Disease Resistance Through Jasmonic Acid/Ethylene and Salicylic Acid Pathways显示文摘	MIGUEL A S M MIGUEL A S F EDITH E U R	2011	Eur J Plant Pathol2011，131，：	1
	15	Primary biliary cirrhosis-autoimmune hepatitis overlap syndrome显示文摘	Jean-Charles Duclos-Vallée Antoine Hadengue Nathalie Ganne-Carrié Edith Robin Claude Degott Serge Erlinger	1995	Digestive Diseases and Sciences1995，，5：	1
	16	Methylpbenidate and Comor- bid Anxiety Disorder in Children With Both Chronic Multiple Tie Disorder and ADHD 显示文摘	Kenneth D Gadow Edith E	2011	J Atten Disord2011，15，：	1
	17	Lactate influx into red blood cells from trained and untrained human subjects显示文摘	Michele S Skelton Duann E Kremer Edith W smith	1998	Med Sci in Sports and Exercise1998，30，4：	1

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