通过基因携带者筛查确定阿拉伯联合酋长国囊性纤维化的患病率。 - Suppr

Suppr

超能文献

Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening.

作者信息

Frossard P M, Lestringant G, Girodon E, Goossens M, Dawson K P

出版信息

Clin Genet. 1999 Jun;55(6):496-7. doi: 10.1034/j.1399-0004.1999.550618.x.

DOI:10.1034/j.1399-0004.1999.550618.x

PMID:10450871

Abstract

摘要

相似文献

Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening.通过基因携带者筛查确定阿拉伯联合酋长国囊性纤维化的患病率。

Clin Genet. 1999 Jun;55(6):496-7. doi: 10.1034/j.1399-0004.1999.550618.x.

3120+1 G-->A: a rare variant in Emirati CF patients.3120+1 G→A：阿联酋囊性纤维化患者中的一种罕见变异

J Coll Physicians Surg Pak. 2006 Feb;16(2):139-40.

Identification of cystic fibrosis mutations in the United Arab Emirates. Mutations in brief no. 133. Online.阿拉伯联合酋长国囊性纤维化突变的鉴定。简要突变第133号。在线版。

Hum Mutat. 1998;11(5):412-3. doi: 10.1002/(SICI)1098-1004(1998)11:5<412::AID-HUMU15>3.0.CO;2-O.

Prenatal screening for cystic fibrosis: an early report card.囊性纤维化的产前筛查：一份早期成绩单。

Genet Med. 2004 May-Jun;6(3):115-6. doi: 10.1097/01.gim.0000127272.60548.52.

The S549R (T-->G) cystic fibrosis gene mutation.S549R（T→G）囊性纤维化基因突变

J Trop Pediatr. 2001 Aug;47(4):196-8. doi: 10.1093/tropej/47.4.196.

Cystic fibrosis.囊性纤维化

Sci Am. 1995 Dec;273(6):52-9. doi: 10.1038/scientificamerican1295-52.

Disease severity associated with cystic fibrosis mutations deltaF508 and S549R(T-->G).与囊性纤维化突变ΔF508和S549R（T→G）相关的疾病严重程度。

East Mediterr Health J. 2001 Nov;7(6):975-80.

Carrier screening, incidence of cystic fibrosis, and difficult decisions.携带者筛查、囊性纤维化发病率及艰难决策

JAMA. 2009 Dec 16;302(23):2595-6. doi: 10.1001/jama.2009.1865.

Cystic fibrosis in the United Arab Emirates: an under-recognized condition?阿拉伯联合酋长国的囊性纤维化：一种未被充分认识的疾病？

Trop Doct. 1995 Jul;25(3):110-1. doi: 10.1177/004947559502500307.

Carrier screening for cystic fibrosis.囊性纤维化携带者筛查。

Obstet Gynecol Clin North Am. 2010 Mar;37(1):47-59, Table of Contents. doi: 10.1016/j.ogc.2010.02.002.

引用本文的文献

Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.阿曼儿童囊性纤维化的患病率及特征：一项多中心横断面研究

Oman Med J. 2022 Nov 30;37(6):e444. doi: 10.5001/omj.2022.101. eCollection 2022 Nov.

Genetic and Clinical Demographics of Adult Cystic Fibrosis Patients in a Middle Eastern Population.中东地区成年囊性纤维化患者的遗传和临床人口统计学特征

Turk Thorac J. 2021 Jul;22(4):279-283. doi: 10.5152/TurkThoracJ.2021.20121.

Newborn Screening for CF across the Globe-?全球范围内的囊性纤维化新生儿筛查 -？

Int J Neonatal Screen. 2020 Mar 4;6(1):18. doi: 10.3390/ijns6010018. eCollection 2020 Mar.

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.囊性纤维化跨膜电导调节因子基因突变的基因型模式：来自沙特阿拉伯的回顾性描述性研究。

Ann Saudi Med. 2020 Jan-Feb;40(1):15-24. doi: 10.5144/0256-4947.2020.15. Epub 2020 Feb 6.

Approach to a child with recurrent pneumonia.复发性肺炎患儿的诊治方法

Sudan J Paediatr. 2015;15(2):71-7.

Cystic Fibrosis from Laboratory to Bedside: The Role of A20 in NF-κB-Mediated Inflammation.从实验室到临床的囊性纤维化：A20在核因子κB介导的炎症中的作用

Med Princ Pract. 2015;24(4):301-10. doi: 10.1159/000381423. Epub 2015 Apr 25.

Defining a mutational panel and predicting the prevalence of cystic fibrosis in oman.确定突变检测组合并预测阿曼囊性纤维化的患病率。

Sultan Qaboos Univ Med J. 2014 Aug;14(3):e323-9. Epub 2014 Jul 24.

Next-generation community genetics for low- and middle-income countries.面向中低收入国家的下一代社区遗传学。

Genome Med. 2012 Mar 29;4(3):25. doi: 10.1186/gm324. eCollection 2012.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验