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:Yui Takada , Yasunari Sakai , Yuki Matsushita ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13 . Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and anim...
作者:Qingping Zhang , Jiaping Wang , Jiarui Li ...
来源:[J].BMC Medical Genetics(IF 2.536), 2017, Vol.18 (1)Springer
摘要:We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).
作者:Sunil Kumar Raina , Sushil Razdan , Renu Nanda
来源:[J].Annals of Indian Academy of Neurology(IF 0.928), 2012, Vol.15 (1), pp.23-26DOAJ
摘要:Objective: To determine the Prevalence of mental retardation in children 3 to 10 years of age. Materials and Methods: The study was conducted in the framework of a population based, single centre, cross-sectional study at R.S.Pura town, 22 kms south- west of Jammu city. Results: ...
作者:Şule Altıner , Nüket Yürür Kutlay
来源:[J].Molecular Cytogenetics(IF 2.36), 2019, Vol.12 (1), pp.1-10DOAJ
摘要:... Results Samples from 30 patients with multiple congenital anomaly and/or mental retardation were analyzed with array comparative genomic hybridization in the context of this study. Before this analysis, karyotyping, subtelomeric fluorescence in situ hybridization and addition...
作者:Pandey U , Phadke S , Mittal B
来源:[J].Neurology India(IF 1.044), 2004, Vol.52 (1), pp.36DOAJ
摘要:The fragile X syndrome is the most frequent cause of inherited mental retardation. It is caused by a dynamic mutation: the progressive expansion of polymorphic (CGG)n trinucleotide repeats located in the promoter region of the FMRI gene at Xq27.3. The cloning of the FMRI gene and...
作者:Laila C. Schenkel , Kristin D. Kernohan , Arran McBride ...
来源:[J].Epigenetics & Chromatin(IF 4.19), 2017, Vol.10 (1)Springer
摘要:Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) is caused by a mutation at the chromatin regulator gene ATRX . The mechanisms involved in the ATR-X pathology are not completely understood, but may involve epigenetic modifications. ATRX has been linked to the regula...
作者:Yuting Chen , B. Bardoni , Ming Yu ...
来源:[J].Chinese Science Bulletin(IF 1.319), 2000, Vol.45 (6), pp.516-520Springer
摘要:Abstract(#br)Fragile X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease gene FMR1 . To study the function of the fragile X mental retardation protein (FMRP) through protein/protein interaction, a mouse...
作者:Torrey L. S. Truszkowski , Eric J. James , Mashfiq Hasan ...
来源:[J].Neural Development(IF 3.549), 2016, Vol.11 (1)Springer
摘要:... Previous studies have implicated changes in dendritic spine architecture as the primary result of loss of Fragile X Mental Retardation Protein (FMRP), but recent work has shown that neural proliferation is decreased and cell death is increased with either loss of FMRP or over...
作者:Ping Hu , Lulu Meng , Dingyuan Ma ...
来源:[J].Molecular Cytogenetics(IF 2.36), 2015, Vol.8 (1)Springer
摘要:Abstract(#br) Purpose(#br)To explore possible genetic aberrations in a Chinese family with aniridia, ptosis and mental retardation, and provide genetic evidence for the prenatal diagnosis.(#br) Methods(#br)14 exons of PAX6 in the proband were sequenced by the Sanger sequencing te...
作者:Sharma S , Namrata S
来源:[J].Neurology India(IF 1.044), 2004, Vol.52 (1), pp.104DOAJ
摘要:... One family member developed isolated facial weakness with mild mental retardation. This genetically proven FSHD family is reported because of its uncommon associations.

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