FRAGILE X syndromeGENETICSCHORIONIC villus samplingMOLECULAR geneticsThey focus on somatic mosaicism, dual diagnoses, deletions and sequence variations to I FMR1 i identified by genomic testing that may not be identified by standard-of-care testing for FXS. Focusing on the physiological ...
Neurobiology of Fragile X syndrome: From molecular genetics to neurobehavioral phenotypedoi:10.1002/JEMT.10065Fragile X syndrome (FraX) is one the most ... W Kaufmann - 《Microscopy Research & Technique》 被引量: 0发表: 2002年 Specification of the neurobehavioral phenotype in males with fragile ...
Disease genetics: Twin-track approach to fragile Xdoi:10.1038/NRG719Mark PattersonNature Publishing GroupNature Reviews Genetics
脆性X智力低下基因:分子遗传学和生物化学研究 FMR1 in Fragile X Syndrome:Molecular Genetics and Biochemistry 脆性X综合征是最常见的遗传性智力低下疾病.该病是由于脆性X智力低下基因(FMR1)功能丧失所致.FMR1基因位于X染色体长臂末端,由17个外显子组成,覆盖约38kb,转录方向从着... 沈岩 - 《遗传》 被引量: ...
G.R.Sutherland,R.I.Richards, inEncyclopedia of Genetics, 2001 Conclusion Fragile X syndromeis a common disorder. Itsgeneticsare reasonably well understood but much remains to be learned about the molecular pathway from genotype to phenotype. Diagnosis by DNA analysis is very reliable, and prenatal...
Genetics in Medicine volume 3, pages 359–371 (2001)Cite this article 11k Accesses 18 Altmetric Metrics details Abstract The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms of inherited mental retardation. The cognitive, behavioral, and ...
Population genetics of the fragile-X syndrome: Multiallelic model for the FMRI locusA model is developed to account for recent molecular observations. It ... JN Macphersont 被引量: 0发表: 0年 An F-box gene linked to the self-incompatibility ( S ) locus of Antirrhinum is expressed specifical...
Editor information Editors and Affiliations University Professor of Genetics, German Cancer Research Center - DKFZ, Heidelberg, Germany Manfred Schwab Rights and permissions Reprints and permissions Copyright information © 2011 Springer-Verlag Berlin Heidelberg...
Simola KOJ (1984) X-linked mental retardation with the marker X chromosome—A clinical and cytogenetic study. Thesis University of Helsinki Smith CAB (1963) Testing for heterogeneity of recombination values in human genetics. Ann Hum Genet 27:175–182 Google Scholar Southern E (1975) Detection ...
ORIGINAL RESEARCH ARTICLE ©American College of Medical Genetics and Genomics Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study Yoshimi Inaba, PhD1, ...