Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene

Published:2005-01 Issue:1 Volume:164 Page:28-30
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Willemsen Michel A. A. P.,Breedveld Guido J.,Wouda Siep,Otten Barto J.,Yntema Jan L.,Lammens Martin,de Vries Bert B. A.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-004-1559-x.pdf

Reference13 articles.

1. Breedveld GJ, van Dongen JW, Danesino C, Guala A, Percy AK, Dure LS, Harper P, Lazarou LP, van der Linde H, Joosse M, Gruters A, MacDonald ME, de Vries BB, Arts WF, Oostra BA, Krude H, Heutink P (2002) Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 11: 971–979

2. DeMello DE, Lin Z (2001) Pulmonary alveolar proteinosis: a review. Pediatr Pathol Mol Med 20: 413–432

3. Devriendt K, Vanhole C, Matthijs G, de Zegher F (1998) Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure. N Engl J Med 338: 1317–1318

4. Doyle DA, Gonzalez I, Thomas B, Scavina M (2004) Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr 145: 190–193

5. Kang Y, Hebron H, Ozbun L, Mariano J, Minoo P, Jakowlew SB (2004) Nkx2.1 transcription factor in lung cells and a transforming growth factor-beta1 heterozygous mouse model of lung carcinogenesis. Mol Carcinog 40: 212–231

Cited by 107 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Differential diagnosis of Huntington’s disease− neurological aspects of NKX2-1-related disorders;Journal of Neural Transmission;2024-06-25

2. The First Indian Patient With Benign Hereditary Chorea due to a De Novo Mutation in the NKX2-1 Gene;Journal of Movement Disorders;2024-04-30

3. NKX2-1-conditioned disorder — «brain–lung–thyroid» syndrome: results of a multicenter study;L.O. Badalyan Neurological Journal;2024-04-27

4. Haploinsufficiency of <i>NKX2-1</i> is likely to contribute to developmental delay involving 14q13 microdeletions;Intractable & Rare Diseases Research;2024-02-29

5. Transcription factors in microcephaly;Frontiers in Neuroscience;2023-11-29

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3