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| 1 | Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn’s disease显示文摘AIM: To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn’s disease (CD). METHODS: A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn’s disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C→T, and SLC22A5 -207G→C mutations was performed by direct sequencing of the specifi c regions of these genes.RESULTS: At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profi le was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls.CONCLUSION: The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD. | Judit Bene Lili Magyari Gábor Talián Katalin Komlósi Beáta Gasztonyi Beáta Tari gnes Várkonyi Gyula Mózsik Béla Melegh | 2006 | World Journal of Gastroenterology2006，12，34： | 6 |
| 2 | Multiplex picodr- oplet digital PCR to detect KRAS mutations in circu- lating DNA from the plasma of colorectal cancer pa- tients显示文摘 | Taly V Pekin D Benhaim L | 2013 | Clin Chem2013，59，12： | 1 |
| 3 | Myasthenia gravis in children: a longitudinal study 显示文摘 | Ashraf V V Taly A B Veerendrakumar M | 2006 | Acta Neurol Scand2006，114，2： | 1 |
| 4 | Angiotensin II type-1 receptor A1166C polymorphism is associated with increased risk of ischemic stroke in hypertensive smokers显示文摘 | Szolnoki Z Havasi V Talián G | 2006 | J Molecul Neurosci2006，28，3： | 1 |
| 5 | Recurrent Guillain-Barre Syndrome:a clinical,electrophysiological and morphological study 显示文摘 | Taly AB Gupta SK Anisya V | 1995 | J Assoc Physicians India1995，43，： | 1 |
| 6 | Miniaturizing chemistry and biology in microdroplets显示文摘 | Kelly B T Baret J C Taly V | 2007 | Chemical Communications2007，，： | 1 |
| 7 | Autonomic dysfunction in Wilson' s disease : a clinical ~md electrophysiological study 显示文摘 | Meenakshi-Sundaram S Taly AB Kamath V | 2002 | Clin Auton Res2002，12，3： | 1 |
| 8 | Autonomic dysfunction in Wilson' s disease-a clinical and electrophysiological study 显示文摘 | Meenakshi-Sundaram SW Taly AB Kamath V | 2002 | Clin Auton Res2002，12，3： | 1 |
| 9 | Fluorescent-activated droplet sorting(FADS) : efficient microfluidic cell sorting based on enzymatic activity显示文摘 | Bare J C Miller O J Taly V | 2009 | Lab Chip2009，9，13： | 1 |
| 10 | Fluorescence-activated droplet sorting (FADS):efficient microfluidic cell sorting based on enzymatic activity显示文摘 | Baret J C Miller O J Taly V | | 0，，13： | 1 |
| 11 | Autonomic dysfunction in Wilson' s disease a clinical and electmphysiological study 显示文摘 | Meenakshi - Sundaram S Taly A B Kamath V Amnodaya G R Rao S Swany H S | 2002 | Clin Aut on Res2002，12，3： | 1 |
| 12 | Fluorescence-activated droplet sorting(FADS):efficient microfluidic cell sorting based on enzymatic activity显示文摘 | Baret JC Miller O J Taly V | | 0，，13： | 1 |
| 13 | Autonomic dysfunction in Wilson's disease-aclinical and electrophysiological study显示文摘 | Meenakshi-Sundaram S Taly AB Kamath V | 2002 | Clin Auton Res2002，12，： | 1 |
| 14 | High-throughput screening of enzyme libraries:in vitro evolution of a β-galactosidase by fluorescence-activated sorting of double emulsions显示文摘 | Mastrobattista E Taly V Chanudet E | | 0，，12： | 1 |
| 15 | Fluorescence-activated droplet sorting(FADS):efficient microfluidic cell sorting based on enzymatic activity显示文摘 | Baret JC Miller O J Taly V | | 0，，13： | 1 |
| 16 | Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients显示文摘 | Taly V Pekin D Benhaim L | 2013 | Clin Chem2013，59，12： | 1 |
| 17 | Autonomic dysfunction in Wilson's disease:A clinical and electrophysiological study显示文摘 | Meenakshi-Sundaram S Taly AB Kamath V | 2002 | Clin Auton Res2002，12，3： | 1 |
| 18 | Mitotic Spindle Disruption by Alter- nating Electric Fields Leads to Improper Chromosome Segregation and Mitotic Catastrophe in Cancer Cells 显示文摘 | Moshe G Rosa SS Tali V | 2015 | Scientific Reports2015，10，5： | 1 |
| 19 | Angiotensin II type-1 receptor A1166C polymorphism is associated with increased risk of ischemic stroke in hypertensive smokers显示文摘 | Havasi V Talián G | 2006 | J Mol Neurosci2006，28，： | 1 |
| 20 | Recurrent Guillain-Barr6 Syn- drome : a clinical, electrophysiological and morphological study 显示文摘 | Taly AB Gupta SK Anisya V | 1995 | The Journal of the Association of Physicians of India1995，43，4： | 1 |
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