万方数据　万方数据　万方数据　万方数据1型神经纤维瘤病的基因学研究进展作者：柯屹峰， 郝瑞， 张虹， Ke Yifeng， Hao Rui， Zhang Hong作者单位：柯屹峰,张虹,Ke Yifeng,Zhang Hong(天津医科大学第二医院眼科,300211)， 郝瑞,Hao Rui(天津市眼科医院,天津医科大学眼科临床学院,300070)刊名：眼科研究英文刊名：CHINESE OPHTHALMIC RESEARCH年，卷(期)：2010,28(2)被引用次数：2次1.操德智;周列民;周珏倩1型神经纤维瘤病神经纤维瘤形成机制的初步研究 2005(05)2.Peters H;Hess D A novel mutation L1425P in the GAP region of the NF1 gene detected byTGGE,mutation in brief NO.230 online[外文期刊] 1999(04)3.Lu D;Nounou R;Beran M The prognostic significance of bone marrow levels of neurofibromatosis 1 protein and ras oncogene mutations in patients with acute myeloid leukemia and myelodysplastic syndrome[外文期刊] 2003(02)4.操德智;周列民;周珏倩镶嵌基因OMGP 与Ⅰ型神经纤维瘤病发病的相关性研究[期刊论文]-中国神经精神疾病杂志 2004(03)5.Tong J;Hanna F;Zhu Y Neurofibromin regulates G protein stimulated adenylyl cyclase activity[外文期刊] 2002(2)6.Dasgupta B;Dugan LL;Gutmann DH The neurofibromatosis 1 gene product neurofibromin regulates pituitary adenylate cyclase activating polypeptide mediated signaling in astrocytes 20037.Chong JA;Moran MM;Teichmann M TATA binding protein (TBP) like factor (TLF) is a functional regulator of transcription:reciprocal regulation of the neurofibromatosis type 1 and c fos genes by TLFP TRF2 and TBP[外文期刊] 2005(7)8.Walker JA;Tchoudakova AV;McKenney PT Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non cell autonomous requirement for GTPase activating protein activity in larval neurons1 [外文期刊] 20069.严明;何荣根;陈万涛Ⅰ型神经纤维瘤病分子遗传学研究进展[期刊论文]-口腔颌面外科杂志 2006(01)10.Yunoue S;Tokuo H;Fukunaga K Neurofibromatosis type I tumor suppressor neurofibromin regulates neuronal differentiation via its GTPase activating protein function toward ras[外文期刊] 2003(29) 11.Cui Y;Costa RM;Murphy GG Neurofibromin regulation of ERK signaling modulates GABA release and learning[外文期刊] 2008(03)12.Hegedus B;Yeh TH;Lee da Y Neurofibromin regulates somatic growth through the hypothalamicpituitary axis[外文期刊] 2008(19)13.Mattocks C;Baralle D;Tarpey P Automated comparative seauence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain [外文期刊] 200414.Ars E;Kruyer H;Morell M Recurrent mutation in the NF1 gene are common among neurofibromatosis type1 patients[外文期刊] 2003(06)15.Kluwe L;Tatagiba M;Funsterer C NF1 mutations and clinical spectrum in patients with spinal neurofibromas[外文期刊] 2003(05)16.Osborn M;Cooper DN;Upadhyaya M Molecular analysis of the 5' flanding region of the neurofibromatosis type 1 (NF1) gene:identification of five sequence variants[外文期刊] 2000(03)17.Zatkova A;Messiaen L;Vandenbroucke I Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1[外文期刊] 200418.John AM;Ruggieri M;Femer R A search for evidence of somatic mutations in the NF1 gene[外文期刊] 2000(01)19.周列民;刘焯霖;梁秀龄1型神经纤维瘤病基因28及31号外显子突变的检测[期刊论文]-中国神经精神疾病杂志2000(05)20.孙中武;梁秀龄;周列民神经纤维瘤病1型基因32、33号外显子突变的检测[期刊论文]-中华神经科杂志1999(01)21.Girodon Boulandet E;Pantel J;Cazeneuve C NF1 gene analysis focused on CpG rich exons in a cohort of 93 patients with neurofibromatosis type 1 2000(03)22.Skoko N;Baralle M;Buratti E The pathological splicing mutation c.6792C》G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors[外文期刊] 2008(15)23.Upadhyaya M;Majounie E;Thompson P Three different pathological lesions in the NF1 geneoriginating de novo in a family with neurofibromatosis type 1[外文期刊] 2003(01)24.Castle B;Baser ME;Huson SM Evaluation of genotype phenotype correlations in neurofibromatosis type 1 2003(10)25.Rasmussen SA;Friedman JM NF1 gene and neurofibromatosis 1[外文期刊] 2000(01)26.Friedman JM Neurofibromatosis 1:Clinical manifestations and diagnostic criteria[外文期刊] 2002(8)27.Akinci A;Acaroglu G;Guven A Refractive errors in neurofibromatosis type1 and type 1[外文期刊] 2007(6)28.Nakakura S;Shiraki K;Yasunari T quantification and anatomic distribution of choroidal abnormalities in patients with type 1 neurofibromatosis 2005(10)29.Bosch MM;Wichmann WW;Boltshauser E Optic nerve sheath meningiomas in patients with neurofibromatosis type 2[外文期刊] 2006(03)1.周海林.杨森.张学军1型神经纤维瘤病的致病基因研究进展[期刊论文]-国外医学（遗传学分册）2005,28(5)2.程芙蓉.李伟峰.周列民.CHENG Fu-rong.LI Wei-feng.ZHOU Lie-min1型神经纤维瘤病肿瘤发生机制的研究进展[期刊论文]-国际遗传学杂志2007,30(2)3.孙漓.周列民.周珏倩.刘焯霖.宁玉萍.SUN Li.ZHOU Lie-min.ZHOU Jue-qian.LIU Zhuo-lin.NING Yu-ping中国人NF1基因突变分析[期刊论文]-中国现代神经疾病杂志2007,7(4)4.赵霞.周列民.周珏倩.梁秀龄.操德智.李伟峰.陈子怡.ZHAO Xia.ZHOU Lie-min.ZHOU Jue-qian.LIANG Xiu-ling .CAO De-zhi.LI Wei-feng.CHEN Zi-yiⅠ型神经纤维瘤病患者神经纤维瘤发生机制的研究[期刊论文]-中山大学学报（医学科学版）2005,26(6)5.严明.何荣根.陈万涛.YAN Ming.HE Rong-gen.CHEN Wan-taoⅠ型神经纤维瘤病分子遗传学研究进展[期刊论文]-口腔颌面外科杂志2006,16(1)6.翟晓佳Ⅰ型神经纤维瘤病的NF1基因突变研究[学位论文]20077.张超.滕利神经纤维瘤病的相关因素与治疗进展[期刊论文]-中国美容医学2010,19(1)8.程芙蓉.周列民.CHENG Fu-rong.ZHOU Lie-min1型神经纤维瘤病发病机制的研究进展[期刊论文]-国际内科学杂志2007,34(9)9.严明.陈万涛.何荣根.YAN Ming.CHEN Wan-tao.HE Rong-genⅡ型神经纤维瘤病分子遗传学研究进展[期刊论文]-中国口腔颌面外科杂志2005,3(3)10.胡小刚.张文俊.章建林.江华.袁湘斌.刘安堂.朱鴷Ⅰ型神经纤维瘤病基因表达谱差异的比较研究[期刊论文]-中国美容整形外科杂志2010,21(8)1.洪勇神经纤维瘤病I型1例[期刊论文]-航空航天医学杂志 2013(1)2.王飞.高志Ⅰ型神经纤维瘤病合并腹腔恶性神经鞘瘤一例及文献复习[期刊论文]-国际外科学杂志 2013(4)引用本文格式：柯屹峰.郝瑞.张虹.Ke Yifeng.Hao Rui.Zhang Hong1型神经纤维瘤病的基因学研究进展[期刊论文]-眼科研究 2010(2)。