1型神经纤维瘤病的基因学研究进展

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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 by

TGGE,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 2003

7.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] 2006

9.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 hypothalamic

pituitary 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] 2004

14.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] 2004

18.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 gene

originating 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)