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| 1 | Contribution of G71R mutation to Gilbert's syndrome phenotype in a Greek patient: A case report显示文摘Gilbert's syndrome is characterized by a benign indirect hyperbilirubinemia.It has often been underestimated and undiagnosed because of its mild symptoms;al-though it is not as rare as was once believed when its frequency was estimated using data originating from biochemical tests.Based on molecular techniques,the occurrence of Gilbert's syndrome has changed,increas-ing to 10% in the Caucasian population.This molecular defect was described,by Bosma et al,in 1995,and af-fects the promoter region of the UGT 1A1 gene.In this case report,our aim is to present a new combination of two molecular defects in a Greek patient with Gilbert' s syndrome.A 13-year-old Greek girl was examined for Gilbert's syndrome using molecular techniques,and an uncommon genotype was revealed comprising the rare mutation G71R in trans with A(TA)7TAA motif.TheG71R mutation according to the literature,as well as our epidemiological data,is rare in Caucasians,while it is common in Asian populations.This is the first case study in the Greek population to report a new genotype for Gilbert's syndrome manifestation in the Caucasian population. | Vassiliki Kalotychou Maria Karakosta Revekka Tzanetea Aleka Stamoulakatou Kostas Konstantopoulos Yannis Rombos | 2011 | World Journal of Gastrointestinal Pharmacology and Therapeutics2011，2，5： | 3 |
| 2 | The role Burden and risk of cholera:implications for prevention and control显示文摘 | Zuckerman JN Rombo L Fisch A | 2007 | Lancet Infect Dis2007，7，8： | 1 |
| 3 | In- terteukin-17 and interleukin-23 are elevated in serumand cerebrospinal fluid of patients with ALS; a reflec- tion of Th17 cells activation? 显示文摘 | RENTZOS M ROMBOS A NIKOLAOU C | 2010 | Acta Neurol Scand2010，3，： | 1 |
| 4 | Serum lgG and lgM anticardiolipin antibodies in neurological diseases显示文摘 | Rombos A Evangelopouuulou KE Levantakou A | 1990 | Acta Neurol Scand1990，81，： | 1 |
| 5 | The true burden and risk of cholera:implications for prevention and control显示文摘 | Zuckerman JN Rombo L Fisch A | 2007 | Lancet Infect Dis2007，7，8： | 1 |
| 6 | Extracellular alpha-synuclein oligomers modulate synaptic transmission and impair LTP via NMDA-receptor activation显示文摘 | Diógenes MJ Dias RB Rombo DM | | 0，，34： | 1 |
| 7 | IL-15 is elevated in serum and cerebrospinal fluid of patients with multiple sclerosis 显示文摘 | Rentzos M Cambouri C Rombos A | 2006 | J Neurol Sci2006，241，12： | 1 |
| 8 | Detection of transitory myocardial ischemia secondary to perinatal asphyxia显示文摘 | Rombo CA Carpio-Hernanadez JC Salazar-Acuna AH | 2000 | Arch Med Res2000，31，3： | 1 |
| 9 | The true burden and risk of cholera: implications for prevention and control显示文摘 | Zuckerman J N Rombo L Fisch A | 2007 | Lancet Infect Dis2007，7，8： | 1 |
| 10 | Selection of an adjuvant for seasonal influenza vaccine in elderly people:modelling immunogenicity from a randomized trial显示文摘 | Rümke HC Richardus JH Rombo L | 2013 | BMC Infect Dis2013，13，： | 1 |
| 11 | The true burden and risk of cholera: implications for prevention and control 显示文摘 | Zuckerman J N Rombo L Fisch A | 2007 | Lancet Infect Dis2007，7，： | 1 |
| 12 | The true burden and risk of cholera:implications for prevention and control显示文摘 | Zuckerman JN Rombo L Fisch A | | 0，，： | 1 |
| 13 | Extracellular alpha-Synuclein oligomers modulate synaptic transmission and impair LTP via NMDA-receptor activation 显示文摘 | Diogenes M J Dias RB Rombo DM | 2012 | J Neurosci2012，32，11： | 1 |
| 14 | Algorithms and Tools for Protein-Protein In- teraction Networks Clustering,with a Special Focus on Population - based Stochastic Methods 显示文摘 | Pizzuti C Rombo S E | 2014 | Bioinformatics2014，30，10： | 1 |
| 15 | Interleukin-17 and interleukin-23 are elevated in serum and cerebrnspinal fluid of patients with ALS:a reflection of Th17 cells activation?显示文摘 | Rentzos M Rombos A Nikolaou C | 2010 | Acta Neurol Scand2010，3，： | 1 |
| 16 | Extracellular alpha-synuclein oligomers modulate synaptic transmission and Impair LTP Via NMDAreceptor activation显示文摘 | Diógenes MJ Dias RB Rombo DM | 2012 | J Neurosci2012，32，11： | 1 |
| 17 | Painless venepuncture in the field显示文摘 | Hellgren U Kihamia CM Rombo L | 2000 | Trans R Soc Trop Med Hyg2000，84，3： | 1 |
| 18 | Improving pro- tein secondary structure predictions by prediction fusion 显示文摘 | Palopoli L G Simona E Rombo A | 2009 | Journal of Computational Biology2009，3，1： | 1 |
| 19 | Ischemia-induced synaptic plasticity drives sustained expression of calcium- permeable AMPA receptors in the hippocampus显示文摘 | Dias RB Rombo DM Ribeiro JA | 2013 | Neuro- pharmacology2013，65，： | 1 |
| 20 | The role of IL-15 in central nervous system disorders 显示文摘 | RENTZOS M ROMBOS A | 2012 | Acta Neurol Scand2012，125，2： | 1 |
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