全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Robert Hilbrands , Kathelijn Keymolen , Alex Michotte ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.
作者:W. Smaili , S. Chafai Elalaoui , S. Meier ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped nose and cone shaped epiphyses. This condition is caused by haploinsuf...
作者:Wen-Yi Yang , Thibault Petit , Nicholas Cauwenberghs ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Platelet Endothelial Aggregation Receptor 1 (PEAR1), a membrane protein highly expressed in platelets and endothelial cells, plays a role in platelet contact-induced activation, sustained platelet aggregation and endothelial function. Previous reports implicate PEAR1 rs12041331 a...
作者:Wen’an Xu , Qiuyue Chen , Cuixian Liu ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations.
作者:Abdoul Karim Ouattara , Pouiré Yameogo , Lassina Traore ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:It is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD deficiency. Antimalarial drug prescriptions must, therefore take into account the patient’s G-6-PD status in malaria endemic areas such as Burkina Faso, w...
作者:Muna A. Al Dhaibani , Diane Allingham-Hawkins , Ayman W. El-Hattab
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental ...
作者:Isabelle C. C. dos Santos , Julieta Genre , Diego Marques ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleotide polymorphisms (SNPs) with thyroid cancer in a population from Rio G...
作者:Marisela Villalobos-Comparán , Bárbara Antuna-Puente , María Teresa Villarreal-Molina ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:The aim of this study was to explore whether interactions between FTO rs9939609 and ABCA1 rs9282541 affect BMI and waist circumference (WC), and could explain previously reported population differences in FTO -obesity and FTO -BMI associations in the Mexican and European populati...
作者:Xiang Ding , Qiukui Hao , Ming Yang ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Recent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the development of insulin resistance and type 2 diabetes mellitus (T2DM). Up to ...

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