瓦登博格综合征Ⅱ型1例
Waardenburg syndrome types Ⅱ:a case report
出处
《医学影像学杂志》
2009年第1期55-55,60,共2页
Journal of Medical Imaging
参考文献5
-
1陶勇,郑芸.瓦登博格综合征[J].听力学及言语疾病杂志,2007,15(2):170-172. 被引量:5
-
2Waardenburg PJ. A new syndrome combining developmenal anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness [J] .Am J Hum Genct, 1951,3: 195.
-
3刘延.内耳病[M].北京:人民卫生出版社,2006.496-514.
-
4陈连军,方栩,方丽.Waardenburg综合征1例[J].临床皮肤科杂志,2000,29(6):366-367. 被引量:4
-
5杨淑芝,曹菊阳,张锐宁,刘新,刘丽贤,张欣,康东洋,戴朴,袁慧军.Waardenburg综合征II型中国家系MITF基因突变分析[J].中国听力语言康复科学杂志,2006,35(2):16-19. 被引量:4
二级参考文献29
-
1杨淑芝,杨伟炎,袁慧军.Waardenburg综合征研究现状[J].临床耳鼻咽喉科杂志,2005,19(19):910-912. 被引量:9
-
2[1]Tassabehji M,Newton VE,liu XZ.et al.The mutational spectrum in Waardenburg syndrome.Hum Mol Genet,1995,4(11):2131-2137.
-
3[2]Hodgkinson CA,Moore KJ,Nakayama A,et al.Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein.Cell,1993,74:395-404.
-
4[3]Steson et al(2003),The Human Gene Mutation Database Cardiff:(HGMD):2003 update.Http://archive.uwcm.ac.uk/uwcm/mg/search.
-
5[4]Farrer LA,Grundfast KM,Amos J,et al.Waardenburgsyndrome (WS) type 1 is caused by defects at multiple loci,one of which is near ALPP on chromose 2:first report of the WS Consortium.Am Hum Genet,1992,50:902-913.
-
6[5]Liu XZ,Newton VE,Read AP.Waardenburg syndrome type 2:phenotypic finding and diagnostic criteria.Am J Med Genet,1995,55:95-100.
-
7[6]Tachubana M,Takeda K,Nobukuni Y,et al.Ectopic expression of MITF,a gene for Waardenburg syndrome type 2,convertsfibroblasts to cells with melanocyte characteristics.Nat Genet,1996,14:50-54.
-
8[7]Nobukuni Y,Watanabe A,Takeda K,et al.Analyses of loss of function mutations of MITF suggest that hapoinsufficiency is a cause of Waardenburg syndrome type 2a.AM J Hum Genet,1996,59:76-83.
-
9[8]Smith SD,Kelley PM,Kenyon JB,et al.Tietz syndrome(hypopigmentation /deafness) cause by mutation of MITF.J Med Genet,2000,37:446-448.
-
10Waardenburg PJ.A new syndrome combining developmenal anomaliesof the eyelids,eyebrows and nose root with pigmentary defects of irisand head hair with congenital deafness[J].Am J Hum Genet,1951,3:195.
共引文献13
-
1陶勇,郑芸.瓦登博格综合征[J].听力学及言语疾病杂志,2007,15(2):170-172. 被引量:5
-
2黄虹.天眩清联用敏使朗治疗梅尼埃病的效果观察[J].右江民族医学院学报,2007,29(6):941-941. 被引量:2
-
3邬小平,董季平,宁文德,杨想春,高燕军.Waardenburg综合征(附一例报告并文献复习)[J].放射学实践,2008,23(7):736-738. 被引量:1
-
4顾菁,何富乐.丹红注射液治疗梅尼埃病临床观察[J].中国乡村医药,2008,15(12):49-49. 被引量:1
-
5洪丽,曾德志,张立,罗世芳,曾英.中药联合氟桂利嗪治疗梅尼埃病临床对照研究[J].海南医学院学报,2011,17(6):774-776. 被引量:3
-
6于泓.瓦登伯革氏症候群一家系报告[J].中国美容医学,2012,21(8):1306-1307.
-
7陈红胜,张华,冯永.Waardenburg综合征的研究进展[J].听力学及言语疾病杂志,2013,21(3):306-311. 被引量:10
-
8董思淇,李佳楠,焦青山,孙丽,刘日渊,郝青青,赵辉,杨仕明.Waardenburg综合征患者人工耳蜗植入术后听觉言语康复效果分析[J].中国听力语言康复科学杂志,2013(5):350-353. 被引量:6
-
9韩阳,陈敏,郑军.Waardenburg综合征及个案分析[J].中华耳科学杂志,2015,13(3):476-479. 被引量:3
-
10任姗姗,刘桂香,王益丹.Waardenburg综合征合并内斜视一例[J].中国实用眼科杂志,2017,35(4):436-436.
-
1褚莉萍,齐少恒,吴静,王洪飞.39例周围性面神经麻痹患者镫骨肌反射临床分析[J].淮海医药,2014,32(4):363-364.
-
2麻蔡军.针刺联合康复训练治疗中风恢复期偏瘫气虚血瘀证临床观察[J].新中医,2016,48(4):17-20. 被引量:3
-
3陈艳玲,焦粤龙.镫骨肌反射与贝尔氏面瘫预后的关系[J].广州医药,1997,28(5):24-25. 被引量:1
-
4神经肌肉疾病[J].国外科技资料目录(医药卫生),2001(6):155-156.
-
5叶晓军,李文修.自身免疫性内耳病1例报告[J].航空军医,1997,25(5):304-304.
-
6王桂林,袁光孚,鄂永安.30例Bell面瘫患者镫骨肌反射的临床观察[J].临床耳鼻咽喉科杂志,1996,10(2):112-112. 被引量:1
-
7杨崇玲,李斐,朱明凤,薛晓红,王幼勤.反复以听力减退为主要症状的多发性硬化症一例[J].听力学及言语疾病杂志,2003,11(2):84-84. 被引量:2
-
8宋学云.应用巴曲酶致脑出血1例[J].中国实用神经疾病杂志,2007,10(8):102-102. 被引量:1
-
9李爱英,檀庆兰.面神经兴奋性试验和镫骨肌反射对面神经麻痹预后评估分析[J].听力学及言语疾病杂志,2002,10(4):220-221. 被引量:2
-
10任重,任登霄.颞骨内面神经麻痹的听觉过敏和镫骨肌反射的相关性[J].中国医科大学学报,1989,18(1):59-61.