全部文献期刊会议图书|学者科研项目
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作者:Rachel Sayuri Honjo , Evelyn Cristina Nuñez Vaca , Gabriela Nunes Leal ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (1), pp.90-21391Springer
摘要:Abstract(#br)Background(#br)The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due t...
作者:Lara Pemberton , Robert Barker , Anna Cockell ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (2), pp.394-395Springer
摘要:Abstract(#br)Background(#br)Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This stud...
作者:Yanxia Li , Luyang Liu , Yubei Huang ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (1), pp.79-83Springer
摘要:Abstract(#br)Background(#br)ABO gene polymorphisms have been reported to be associated with the risk of multiple cancers and cardiocerebrovascular diseases. However, the results remained controversial. In this study, we conducted a systematic review and meta-analysis to clar...
作者:Min Hu , Yaowu Han , Ying Zhang ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (5), pp.394-424Springer
摘要:Abstract(#br)Background(#br)Our preliminary bioinformatics analysis showed that lncRNA TINCR may absorb miR-214-5p by serving is sponge, while miR-214-5p targets ROCK1. This study aimed to investigate the interactions among these 3 factors in hepatocellular carcinoma (HCC). Metho...
作者:Panpan Ye , Jia Xu , Yueqiu Luo ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (7), pp.45-69Springer
摘要:Abstract(#br)Background(#br)Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a consanguineous Chinese family with ARB. Met...
作者:Meriam Hadj Amor , Sarra Dimassi , Amel Taj ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (7), pp.1515-1520Springer
摘要:Abstract(#br)Background(#br)While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 d...
作者:Alice Poisson , Nicolas Chatron , Audrey Labalme ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (1), pp.568-572Springer
摘要:Abstract(#br)Background(#br)The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain...
作者:Yanyan Qian , Bingbing Wu , Yulan Lu ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (29), pp.182-209Springer
摘要:Abstract(#br)Background(#br)Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders. Case presentation(#br)In this study, we report...
作者:Peiyao Jin , Zhiqiang Li , Xian Xu ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (2), pp.948-958Springer
摘要:Abstract(#br)Background(#br)The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients of different glycemic status separately. Me...
作者:Nida S. Iqbal , Thomas A. Jascur , Steven M. Harrison ...
来源:[J].BMC Medical Genetics(IF 2.536), 2020, Vol.21 (5), pp.44-48Springer
摘要:Abstract(#br)Background(#br)Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manifest three cardinal...

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