OMIM相关论文
THREE NOVEL FOXL2 GENE MUTATIONS IN CHINESE PATIENTS WITH BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSU
BLEPHAROPHIMOSIS-PTOSIS-EPICANTHUS INVERSUS SYNDROME (BPES, OMIM # 110100) IS A RARE AUTOSOMAL DOMINANT DISORDER AFFECTI......
Interleukin and interleukin receptor gene polymorphisms in inflammatory bowel diseases susceptibilit
Inflammatory bowel disease(IBD),which includes Crohn’s disease(CD)and ulcerative colitis(UC),represents a group of chro......
在101.32 kPa下,用改进的Othmer釜测定了甲醇-苯-1-辛基-3-甲基咪唑四氟硼酸盐([OMIM]BF4)物系的等压汽液平衡数据;采用UNIFAC方程......
In situ pressure-induced Raman spectral changes of 1-octyl-3-methyl imidazolium hexafluorophosphate([OMIM][PF6])have bee......
Infantile (INCL, NCL1) and late-infantile (LINCL, NCL2) neuronal ceroid lipofuscinoses have been found to result from ge......
测定了101.3 kPa下甲醇-乙酸甲酯-1-丁基-3-甲基咪唑双三氟甲磺酰亚胺盐([BMIM][Tf2N])体系的汽液平衡,并用NRTL方程对测得的汽液......
先证者男,汉族,50岁.双眼视力进行性减退10年,视力为0.01,不能矫正.色觉轻微异常.眼底黄斑区2×2 视盘直径金箔样反光,散在色素沉......
Berardinelli-Seip综合征(BSCL/CGL;OMIM269700),也称先天性全身脂肪营养不良症(con-genital generalized lipodystrophy,CGL),是......
Arthrogryposis,renal dysfunction and cholestasis(ARC)syndrome(OMIM 208085)is an autosomal recessive disorder that is cau......
Interleukins and interleukin receptors in rheumatoid arthritis: Research, diagnostics and clinical i
Rheumatoid arthritis(RA) is an autoimmune disease, resulting in a chronic, systemic inflammatory disorder. It may affect......
Obiective:To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleu......
Objective:Genotype-phenotype associations were studied in 517 subjects clinically affected by classical neuronal ceroid ......
Dystonia is a syndrome which is characterized by sustained muscle contractions, producing twisting, repetitive, and patt......
假性肥大型进行性肌营养不良,又称duchenne/becker肌营养不良(duchenne/becker muscular dystophy,DMD/BMD,OMIM 310200/300376),......
Mitochondrial malfunction in vanishing white matter disease:a disease of the cytosolic translation m
Vanishing white matter(VWM)disease–a disease of the cytosolic translation machinery:VWM is a recessive genetic neurodeg......
Carnitine acylcarnitinetranslocase (CACT )deficiency(OMIM 2 12 138)isanautosomalrecessivediseasecausedbymutationsoftheSL......
Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now......
AIM: To analyze the metastasis-related proteins in hepatocellular carcinoma (HCC) and discover the biomarker candidates ......
小耳畸形是一种较常见的先天畸形,由于外耳在头面部的突出位置,耳部畸形不仅严重影响患者容貌,并且给患者和其家属带来巨大精神负......
Citrin deficiency,autosomal recessive disorder,caused by mutation of SLC25A13 gene on chromosome 7q21.3 has two major ph......
While 5-fluorouracil used as single agent in patients with metastatic colorectal cancer has an objective response rate a......
Osteopathia striata with cranial sclerosis(OSCS, OMIM#300373) is an X-linked dominant sclerosing bone dysplasia that sho......
Gene mutation (e.g.substitution,insertion and deletion) and related phenotype information are important biomedical knowl......
OMIM即“在线人类孟德尔遗传”,它具有及时、准确、全面、实用等特点,充分利用OMIM是提高医学遗传学教学质量的有效途径.......
介绍在线人类孟德尔遗传数据库(Online Mendclian Inhcritance in Man,OMIM)及其检索查询，并讨论医学高校图书馆如何利用OMIM为医学......
银屑病是一种常见的多基因遗传病.迄今为止,在OMIM中收录了7个银屑病易感基因位点,染色体6p上的PSORS1是当前银屑病的研究热点,是......
介绍在线孟德尔遗传数据库的全面性、实用性、准确性和及时更新等基本特点,并就其在医学遗传学教学、科研中的应用作一综述。......
OMIM即“在线《人类孟德尔遗传（MIM）》“，最显著的特点就是其疾病遗传学信息的及时性和免费可检索性，内容几乎天天增加，可以轻易查询到......
本文介绍了利用美国国立生物技术信息中心(NCBI)联机人类孟德尔遗传系统(OMIM)获取人类基因与遗传疾病信息的方法与技巧。......
苯丙酮尿症（phenylketonuria，PKU；OMIM 261600）是由于苯丙氨酸羟化酶（phenylalanine hydroxylase，PAn）功能障碍导致的遗传代谢性疾病，可分......
对从人类孟德尔遗传在线服务(Online Mendelian Inheritance in Man,OMIM,http://www3.ncbi.nlm.gov/Omim/searchomim.html)检索的......
21-三体综合征,又称唐氏综合征(OMIM#190685),是最早被发现的染色体病,也是最常见的由单个病因引起的智力障碍,其发病率在活婴中为......
