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[1]魏莹,刘戈力,郑荣秀,等.Alstrom综合征1例报告及文献复习[J].天津医科大学学报,2020,26(06):572-574.
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Alstrom综合征1例报告及文献复习(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
26卷
期数:
2020年06期
页码:
572-574
栏目:
病例报告
出版日期:
2020-11-20

文章信息/Info

Title:
-
作者:
魏莹1刘戈力1郑荣秀1牛婧娅2
1.天津医科大学总医院儿科,天津 300052;2.天津医科大学研究生院,天津 300070
Author(s):
-
关键词:
ALMS1基因Alstrom综合征基因突变测序
Keywords:
-
分类号:
R725
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] Alstrom C H,Hallgren B,Nilsson L B,et al. Retinal degeneration combined with obesity,diabetes mellitus and neurogenous deafness: a specific syndrome(not hitherto described)distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical,endocrinological and genetic examination based on a large pedigree[J]. Acta Psychiatr Neurol Scand Suppl,1959,129(1):1
[2] Cruz-Aguilar M,Galaviz-Hernández C,Hiebert-Froese J,et al. A nonsense ALMS1 mutation underlies alstr?觟m syndrome in an extended Mennonite kindred settled in North Mexico[J]. Genet Test Mol Biomarkers,2017,21(6):397
[3] Hearn T. ALMS1 and Alstr?觟m syndrome: a recessive form of metabolic,neurosensory and cardiac deficits[J]. J Mol Med (Berl),2019,97(1):1
[4] Waldman M,Han J C,Reyes-Capo D P,et al. Alstr?觟m syndrome: renal findings in correlation with obesity,insulin resistance,dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center[J]. Mol Genet Metab,2018,125(1/2):181
[5] ?魣lvarez-Sm ?魣,Castro-Ss C,Valverde D. Alstr?觟m syndrome: current perspectives [J]. Appl Clin Genet,2015,21(8):171
[6] Priya S,Nampoothiri S,Sen P,et al. Bardet-Biedl syndrome: genetics,molecular pathophysiology ,and disease management[J]. Indian J Ophthalmol,2016,64(9):620
[7] 蔡清霞,常国营,丁宇,等. 儿童Alstrom综合征1例报告及文献复习[J]. 临床儿科杂志,2017,35(4):278
[8] Marshall J D,Muller J,Collin G B,et al. Alstr?觟m syndrome: mutation spectrum of ALMS1[J]. Hum Mutat,2015,36(7):660
[9] Tsai M C,Yu H W,Liu T,et al. Rare compound heterozygous frameshift mutations in ALMS1 gene identified through exome sequencing in a taiwanese patient with alstr?觟m syndrome[J]. Front Genet, 2018,9:110
[10] 匡蕾,王炜,叶山东,等.Alstrom综合征一例[J].中华糖尿病杂志,2013,5(3):189
[11] Casey J,Mcgettigan P,Brosnahan D,et al. Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria[J]. Eur J Med Genet,2014,57(2/3):55
[12] Manara R,Citton V,Maffei P,et al. Degeneration and plasticity of the optic pathway in Alstr?觟m syndrome[J]. AJNR Am J Neuroradiol,2015,36(1):160
[13] 张倩文.Alstrom综合征的发病机制及诊治进展[J]. 国际儿科学杂志,2020,47(1):59

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备注/Memo

备注/Memo:
文章编号 1006-8147(2020)06-0572-03
基金项目 天津市科技计划项目(19KPHDRC00020);天津市高等学校科技发展基金计划项目(20140126)
作者简介 魏莹(1971-),女,副主任医师,硕士,研究方向:小儿内分泌;通信作者:刘戈力,E- mail:liugeli2001@126.com。
更新日期/Last Update: 2020-11-20