Medical genetics, as an important component in the advanced medical practice, has touched in variant aspectsof clinical aspects. Globally, in both developed and developing countries, medical genetics is playing more a...Medical genetics, as an important component in the advanced medical practice, has touched in variant aspectsof clinical aspects. Globally, in both developed and developing countries, medical genetics is playing more andmore important roles in dealing with the public healthcare. Being a medical specialty performing diagnosis and in-tervention for genetic disorders, the medical genetics has bridged the clinical practice and basic medical sciences.It is derived, butdifferent, fromhuman genetics. The difference of which is thatthe medical genetics provides clin-ical service for medical professionals and patients; however, the human genetics focuses on investigation of geneticprinciples.展开更多
The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history.It was established about 60 years ago.After the division of pediatric neurology(DPN) had been established in 1960...The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history.It was established about 60 years ago.After the division of pediatric neurology(DPN) had been established in 1960s,it had been assigned to cover genetic disorders.During the recent 20 years,efforts have been put on three aspects:(1)Pediatric neurology clinical service and education;(2)research studies of childhood epilepsies and pediatric neurogenetic disorders;and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program.In this paper,we reviewed the history of the pediatric neurology division in our department,our clinical and research work and achievements for neurogenetic diseases.展开更多
2023年8月19日,国家儿童医学中心(上海)、上海交通大学医学院附属上海儿童医学中心遗传分子诊断科研究团队在国际血液学领域权威期刊、国际血栓与止血学会(International Society on Thrombosis and Haemostasis,ISTH)官方期刊Journal o...2023年8月19日,国家儿童医学中心(上海)、上海交通大学医学院附属上海儿童医学中心遗传分子诊断科研究团队在国际血液学领域权威期刊、国际血栓与止血学会(International Society on Thrombosis and Haemostasis,ISTH)官方期刊Journal of Thrombosis and Haemostasis发表题目为SINE-VNTR-Aluretrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia的研究论文。展开更多
文摘Medical genetics, as an important component in the advanced medical practice, has touched in variant aspectsof clinical aspects. Globally, in both developed and developing countries, medical genetics is playing more andmore important roles in dealing with the public healthcare. Being a medical specialty performing diagnosis and in-tervention for genetic disorders, the medical genetics has bridged the clinical practice and basic medical sciences.It is derived, butdifferent, fromhuman genetics. The difference of which is thatthe medical genetics provides clin-ical service for medical professionals and patients; however, the human genetics focuses on investigation of geneticprinciples.
文摘The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history.It was established about 60 years ago.After the division of pediatric neurology(DPN) had been established in 1960s,it had been assigned to cover genetic disorders.During the recent 20 years,efforts have been put on three aspects:(1)Pediatric neurology clinical service and education;(2)research studies of childhood epilepsies and pediatric neurogenetic disorders;and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program.In this paper,we reviewed the history of the pediatric neurology division in our department,our clinical and research work and achievements for neurogenetic diseases.
文摘2023年8月19日,国家儿童医学中心(上海)、上海交通大学医学院附属上海儿童医学中心遗传分子诊断科研究团队在国际血液学领域权威期刊、国际血栓与止血学会(International Society on Thrombosis and Haemostasis,ISTH)官方期刊Journal of Thrombosis and Haemostasis发表题目为SINE-VNTR-Aluretrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia的研究论文。