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| 1 | The role of hypofractionation radiotherapy for diffuse intrinsic brainstem glioma in children: a pilot study显示文摘 | Janssens GO Gidding CE Van Lindert E J Oldenburger FR Erasmus CE Schouten-Meeteren A Y Kaanders JH | 2009 | 中国神经肿瘤杂志2009，7，3： | 8 |
| 2 | Thiopurine-methyltransferase variants in inflammatory bowel disease:Prevalence and toxicity in Brazilian patients显示文摘AIM:To analyze the prevalence of thiopurine-methyltransferase(TPMT)genotypes and their associationwith drug toxicity in inflammatory bowel disease(IBD)patients from southeastern Brazil.METHODS:A total of 219 consecutive patients with IBD,of which 146 had Crohn’s disease and 73 had ulcerative colitis,regularly seen at the outpatient unit of the Division of Gastroenterology at the University Hospital Pedro Ernesto of the State University of Rio de Janeiro,a tertiary referral center,were enrolled in this study from February 2009 to January 2011.We analyzed the presence of major TPMT genetic variants(TPMT*2,*3A,*3C)in IBD patients by means of a specific allele and RFLP-PCR.Genomic DNA was isolated from peripheral blood leukocytes by proteinase-K/Sodium Dodecyl Sulfate digestion and phenol-chloroform extraction.TPMT*2(C238G),TPMT*3A(G460A/A719G),and TPMT*3C(A719G)genotypes were detected by real-time polymerase chain reaction followed by direct sequencing with specific primers.Clinical data were systematically recorded,and correlated with the genotype results.RESULTS:The distribution of the selected TPMT gene polymorphism TPMT*2(C238G),TPMT*3A(G460A/A719G),and TPMT*3C(A719G)genotypes was 3.6%,5.4%,and 7.7%of the patients,respectively.Among the side effects recorded from patients taking azathioprine,14 patients presented with pancreatitis and/or an elevation of pancreatic enzymes,while 6 patients had liver toxicity,and 2 patients exhibited myelosuppression/neutropenia.TPMT polymorphisms were detected in 37/219 patients(8 heterozygous for*2,11 heterozygous for*3A,and 18 heterozygous for*3C).No homozygotic polymorphisms were found.Despite the prevalence of the TPMT*3C genotype,no differences among the genotype frequencies were significant.Although no association was detected regarding myelotoxicity or hepatotoxicity,a trend towards the elevation of pancreatic enzymes was observed for TPMT*2 and TPMT*3C genotypes.CONCLUSION:The prevalence of TPMT genotypes was high among Brazilian patients.Variants genes*2and*3C may be associated with azathioprine pancreatic toxicity in a IBD southeastern Brazilian population. | Ana Teresa P Carvalho Barbara C Esberard Renata S B Fróes Davy C M Rapozo Ana B Grinman Tatiana A Simo Juliana C V C Santos Antonio José V Carneiro Luis Felipe Ribeiro-Pinto Heitor S P de Souza | 2014 | World Journal of Gastroenterology2014，20，12： | 3 |
| 3 | 钾通道J亚家族成员5基因嵌合导致双侧肾上腺皮质增生进而引起的早期原发性醛固酮增多症显示文摘钾通道J亚家族成员5(potassium voltage-gated channel subfamily J member 5,KCNJ5)的体细胞变异最易导致原发性醛固酮增多症(primary aldosteronism,PA),有部分患者因KCNJ5钾通道基因的生殖细胞突变而患该病[家族性醛固酮增多症Ⅲ型(familial hyperaldosteronismⅢ,FH-Ⅲ)]。方法:1998年,美国国立卫生研究院临床中心发现一名11岁的白人男孩,患有早期严重高血压。 | Maria AG Suzuki M Berthon A Kamilaris C Demidowich A Lack J Zilbermint M Hannah-Shmouni F Faucz FR Stratakis CA 周卫(译) 叶鹏(审校) | 2020 | 中华高血压杂志2020，28，12： | 2 |
| 4 | A profile of the immediate endocrine,metabolic and behavioural responses following a dual exposure to endotoxin in early life显示文摘 | Walker FR Brogan A Smith R | 2004 | Physiol Behav2004，83，： | 1 |
| 5 | Arsenosugars from brown kelp ( Ecklonia radiata) as intermediates in cycling of arsenic in a marine ecosystem 显示文摘 | Edmonds J S Fr ancesconi K A | 1981 | Nature1981，，289： | 1 |
| 6 | A current view of the mammalian aquaglyceroporins 显示文摘 | Rojek A Praetorius J Fr kiaer J | 2008 | Annu Rev Physiol2008，70，： | 1 |
| 7 | Large eddy simulations and experimental studies of turbulent premixed combustion near extinction 显示文摘 | Wang Ping Zieker F Schieβl R Platova N A Fr?hlich J Maas U | 2013 | Proceedings of the Combustion Institute2013，34，1： | 1 |
| 8 | Acute myeloid leukemia(AML)with 9q aberrations occurring within a non-complex karyotype is highly associated with CEBPA and NPM1 mutations–a joint analysis of the German-Austrian AML Study Group(AMLSG)and Cancer and Leukemia Group B(CALGB)显示文摘 | Corbacioglu A Frhling S Paschka P | 2007 | Blood2007，110，1： | 1 |
| 9 | Health risk assessment of dioxin emissions from municipal waste incinerators: the Neerlandquarter (Wilrijk, Belgium)显示文摘 | J Nouwen C Cornelis R De Fré M Wevers P Viaene C Mensink J Patyn L Verschaeve R Hooghe A Maes M Collier G Schoeters R Van Cleuvenbergen P Geuzens | 2001 | Chemosphere2001，，4： | 1 |
| 10 | The perceived value of the rural tourism stay and its effect on rural tourist behaviour 显示文摘 | Ana Isabel Polo Pen-a Dolores Mar'la Fr'las Jamilena and Miguel A' ngel Ikodr'lguez Molina | 2012 | Journal of Sustainable Tourism2012，20，8： | 1 |
| 11 | Development of the Italian version of the National Institutes of Health Stroke Scale: It-NIHSS显示文摘 | Pezzella FR Pieeoni O De Luea A | 2009 | Stroke2009，40，7： | 1 |
| 12 | Quality control in rehabilitation of patients with visual impairment: evaluation of use and benefits of optic and elec- tronic devices 显示文摘 | Fr hlich S J Lackerbauer C A | 2006 | Ophthalmologe2006，103，12： | 1 |
| 13 | Cancer-related inflammation: commonthemes and therapeutic opportunities显示文摘 | Balkwill FR Mantovani A | 2012 | Semin Cancer Biol2012，22，： | 1 |
| 14 | Epidemiology of hemophilia in Greece: all overview显示文摘 | Koumbarelis E Rosendaal FR Gialeraki A | 1994 | Thromb Haemost1994，72，6： | 1 |
| 15 | Global strategy for the di- agnosis, management, and prevention of chronic obstructive pulmonary disease GOLD executive summary显示文摘 | Klaus FR Suzanne H Antonio A | 2007 | Am J Re- spir Crit Care Med2007，176，4： | 1 |
| 16 | Shigella enterotoxin 1 : an enterotoxin of Shigella flexneri 2a active in rabbit small intestine in vivo and in vitro显示文摘 | Fasano A Noriega FR Maneval DR Jr | 1995 | J Clin Invest1995，95，： | 1 |
| 17 | CD31 promotes 1 integrin 2 dependent engulfment of apoptotic Jurkat T-ymphocytes opsonized for phagocytosis by fibronectin显示文摘 | Vernon-Wil EF Frédéric A Brown SB | 2006 | J Leukoc Biol2006，79，： | 1 |
| 18 | Sirolimus-eluting and paclitaxel-eluting stens for coronary revascularization显示文摘 | Windecker S Remondino A Eberli FR | 2005 | N Engl J Med2005，353，7： | 1 |
| 19 | Correction of insulin resistance and hyperandrogenism in polycystie ovary syndrome by combined rosiglitazone and domiphene citrate therapy显示文摘 | Shobokshi A Shaarawy M CPath FR | 2003 | J Soc Gynecol Investig2003，10，2： | 1 |
| 20 | Transdermal drug delivery using electroporation I ~ Factors influencing in vitro delivery of terazosin hydrochloride in hairless rats 显示文摘 | Sharma A Kara M Smith FR | 2000 | J Pharm Sci2000，89，4： | 1 |
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