|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Association between the functional polymorphism C-159T in the CD14 promoter gene and nasal polyposis:potential role in asthma显示文摘 | Bazdani N Amoli MM Naraghi M | 2012 | J Inves tig Allergol Clin Immunol2012，22，6： | 1 |
| 2 | VEGF gene mRNA ex- pression in patients with coronary artery disease 显示文摘 | AMOLI M M AMILI P ALBORZI A | 2012 | Mol Biol Rep2012，39，9： | 1 |
| 3 | Laparoscopic total gastric vertical plication in morbid obesity显示文摘 | Talebpour M Amoli BS | | 0，，： | 1 |
| 4 | Energy storage application for performance enhancement of wind integration显示文摘 | GHOFRANI M ARABALI A AMOLI M E | 2013 | IEEE Trans on Power Systems2013，28，4： | 1 |
| 5 | Genet- ic - Algorithm - Based Optimization Approach for Ener- gy Management显示文摘 | Arabali A Ghofrani M Etezadi - Amoli M | 2013 | IEEE Transactions on Power Deliv- ery2013，28，1： | 1 |
| 6 | A novel PCR-RFLP assay for the detection of a polymorphism in the 3 ' of STAT6 gene 显示文摘 | AMOLI M OLLIER W E HAJEER A H | 2000 | Genes Immunity2000，1，5： | 1 |
| 7 | HLA-B35 association with nephritis in Henoch Schonlein Purpura 显示文摘 | Amoli M M Thomson W Hajeer A H | 2002 | J Rheumatol2002，29，5： | 1 |
| 8 | A novel PCR-RFLP assay for the detection of a polymorphism in the 3 ' of STAT6 gene 显示文摘 | AMOLI M OLLIER W E HAJEER A H | 2000 | Genes Immu2000，1，5： | 1 |
| 9 | Laparoscopic total gastric vertical plication in morbid obesity 显示文摘 | Talebpour M Amoli BS | 2007 | J Laparoendosc Adv Surg Tech A2007，17，： | 1 |
| 10 | A novel PCR-RFLP assay for the detection of a polymorphism in the 3′of STAT6 gene显示文摘 | Amoli M Ollier W E R Hajeer A H | 2000 | Genes Immun2000，1，5： | 1 |
| 11 | Interleukin 1 beta gene polymorphism association with severe renal manifestations and renal sequelae in Henoch-Schonlein purpura显示文摘 | Amoli M M Calvino M C Garcia P C | 2004 | Journal of Rheumatology2004，31，2： | 1 |
| 12 | A novel PCR-RFLP assay for the detection of a polymorphism in the 3'of STAT6 gene显示文摘 | Amoli M Ollier WER Hajeer AH | 2000 | Genes Immun2000，1，5： | 1 |
| 13 | Interleukin 1 beta gene polymorphism association with severe renal manifestations and renal sequelae in Henoch-Schonlein 显示文摘 | Amoli M M Calvino M C Garcia P C | 2004 | Journal of Rheumatology2004，31，2： | 1 |
| 14 | Association betweenthe functional polymorphism C-159T in the CD14 promoter gene and nasal polyposispotential role in asthma显示文摘 | Yazdani N Amoli MM Naraghi M | 2012 | J Inves- tig Allergol Clin Immunol2012，22，6： | 1 |
| 15 | A novel PCR-RFLP assay for the detection of a polymorphism in the 3 ' of STAT6 gene 显示文摘 | Amoli M Ollier WE Hajeer AH | 2000 | Genes Immun2000，1，： | 1 |
| 16 | Malignant pheochromocytoma in neurofibromatosis; mutation screening of RET proto-oncogene, VHL and SDH gene显示文摘AIM: To investigate pathogenic mutations related to malignant pheochromocytoma in neurofibromatosis(NF).METHODS: We present a patient with NF and metastatic pheochromocytoma in whom genetic screening for presence of pathogenic mutations in RET protooncogene, von Hippel-Lindau(VHL) and succinate dehydrogenase complex subunits B(SDHB) genes were investigated. RET proto-oncogene mutation screening for exons 10, 11, 13, 14, 15, 16 were examined by polymerase chain reaction(PCR) and direct DNA sequencing in patient. Mutation screening for exons 1, 2, 3 of VHL gene was carried out. Both forward and reverse strandswere subjected to direct sequencing after PCR amplification. The entire coding sequence of SDHB gene was screened for the presence of pathogenic mutations by PCR-sequencing.RESULTS: A 45-year-old man presented with abdominal pain and hypertension over the previous year. The patient was a known case of neurofibromatosis type 1(NF1) who presented at the age of 15 years with hyperpigmented and hypopigmented lesions. After complete evaluation for hypertension, biochemical tests and imagings indicated a malignant pheochromocytoma of 120 mm × 70 mm in size. The patient underwent left adrenalectomy, nephrectomy and splenectomy. After surgery the symptoms improved and blood pressure was controlled. After 5 years he was admitted again for evaluation of hypertensive crisis. Biochemical tests were again consistent with pheochromocytoma and disease relapse. Imaging studies and liver biopsy confirmed metastatic pheochromocytoma to the liver and para-aortic area. 131 Iodine-metaiodobenzylguanidine therapy was carried out. Genetic screening of VHL(exons 1, 2, 3), RET proto-oncogene(exons 10, 11, 13, 14, 15, 16) and SDH complex subunits revealed no pathogenic mutation. CONCLUSION: We conclude that mutations in the NF1 gene are responsible for the patient's clinical findings. However, would be helpful to further examine somatic mutations for a more precise study of genotypephenotype correlation. | Shirin Hasani-Ranjbar Mahsa M Amoli Maasumeh Noorani Mohsen Ghadami | 2013 | World Journal of Medical Genetics2013，3，1： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员