An update on the biology and management of dyskeratosis congenita and related telomere biology disorders
MR Niewisch, SA Savage - Expert review of hematology, 2019 - Taylor & Francis
ABSTRACT Introduction: Telomere biology disorders (TBDs) encompass a group of
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders
PP Khincha, AA Bertuch, S Agarwal… - European …, 2017 - Eur Respiratory Soc
The telomere biology disorder (TBD) dyskeratosis congenita (DC) is a multisystem inherited
bone marrow failure syndrome and cancer predisposition syndrome caused by germline …
bone marrow failure syndrome and cancer predisposition syndrome caused by germline …
Is the hepatic factor A miRNA that maintains the integrity of pulmonary microvasculature by inhibiting the vascular endothelial growth factor?
JJ Vettukattil - Current Cardiology Reviews, 2017 - ingentaconnect.com
Background: The “hepatic factor,” a molecule or group of molecules present in the hepatic
venous blood, essential for the prevention of the development of pulmonary arteriovenous …
venous blood, essential for the prevention of the development of pulmonary arteriovenous …
Pulmonary arteriovenous malformations leading to hypoxemia in child with primary ciliary dyskinesia
EO Aregullin, VR Kaley, JJ Vettukattil - Pediatric Pulmonology, 2019 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is a rare genetic condition characterized by respiratory tract
infections, situs inversus or heterotaxy, and male infertility. Chronic respiratory infections …
infections, situs inversus or heterotaxy, and male infertility. Chronic respiratory infections …
Living-donor lung transplantation for dyskeratosis congenita
A Ohsumi, D Nakajima, A Yoshizawa… - The Annals of Thoracic …, 2021 - Elsevier
This report describes 2 cases of dyskeratosis congenita in patients with progressive
pulmonary diseases who required urgent living-donor lung transplantations. In the first case …
pulmonary diseases who required urgent living-donor lung transplantations. In the first case …
[PDF][PDF] “第二届中德儿科高峰论坛暨新生儿临床疑难热点问题研讨会” 会议通知
佛山市妇幼保健院 - 中国当代儿科杂志 - zgddek.com
[1] 申昆玲, 江载芳, 徐保平. 支气管扩张和原发性纤毛运动障碍[M]//江载芳, 申昆玲, 沈颖.
诸福棠实用儿科学上册. 第8 版. 北京: 人民卫生出版社, 2015: 1300-1302.[2] Nicholson AG …
诸福棠实用儿科学上册. 第8 版. 北京: 人民卫生出版社, 2015: 1300-1302.[2] Nicholson AG …
[HTML][HTML] 反复肺部感染及口腔黏膜溃疡
匡飞梅， 唐兰兰， 张辉， 谢岷， 杨明华… - Chinese Journal of …, 2017 - ncbi.nlm.nih.gov
Abstract 8 岁女性患儿， 因间断咳嗽、 发热3 年余， 再发1 月余入院。 近1 年反复出现口腔黏膜
溃疡。 体格检查发现右上背部皮肤色素脱失。 外院多次查血常规和免疫功能正常。 多次肺部CT …
溃疡。 体格检查发现右上背部皮肤色素脱失。 外院多次查血常规和免疫功能正常。 多次肺部CT …
Telomere Biology and Disease
Telomeres are repetitive nucleotide sequences at the ends of mammalian chromosomes
that are critical for genomic stability. Multiple protein complexes bind to and regulate …
that are critical for genomic stability. Multiple protein complexes bind to and regulate …
Pulmonary Manifestations of Other Well-Defined Immunodeficiencies
To date, various conditions with immunodeficiency accompanied by different systemic
features have been classified as other well-defined primary immunodeficiencies (PIDs) …
features have been classified as other well-defined primary immunodeficiencies (PIDs) …
Recurrent pulmonary infection and oral mucosal ulcer
FM Kuang, LL Tang, H Zhang, M Xie… - … Dang dai er ke za zhi …, 2017 - europepmc.org
Abstract 8 岁女性患儿, 因间断咳嗽, 发热 3 年余, 再发 1 月余入院. 近 1 年反复出现口腔黏膜
溃疡. 体格检查发现右上背部皮肤色素脱失. 外院多次查血常规和免疫功能正常. 多次肺部 CT …
溃疡. 体格检查发现右上背部皮肤色素脱失. 外院多次查血常规和免疫功能正常. 多次肺部 CT …