Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
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Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in researchThe FMRP regulon: from targets to disease convergenceHaploinsufficiency of Cyfip1 produces fragile X-like phenotypes in micePsychosis and autism as diametrical disorders of the social brainCyfip1 Regulates Presynaptic Activity during DevelopmentCYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formationEpigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionGenome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesNormal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndromeA neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum DisordersThe neurobiology of mouse models syntenic to human chromosome 15q.Prader-Willi syndrome and autism spectrum disorders: an evolving story.Angelman Syndrome.From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study.Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient miceRare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese populationClinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesElectroencephalogram of age-dependent epileptic encephalopathies in infancy and early childhood.A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.Autism spectrum disorders--a genetics review.Human imprinting syndromes.Autism spectrum disorders: the quest for genetic syndromes.Angelman syndrome: review of clinical and molecular aspects.Medical conditions in autism spectrum disordersRecurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.Common Regulatory Variants of CYFIP1 Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism.Parent stress across molecular subtypes of children with Angelman syndrome.Unmet clinical needs and burden in Angelman syndrome: a review of the literature.Genome-wide testing: genomic medicine: commentary on the article by Bar-Shira et al. on page 353.Social responsiveness and competence in Prader-Willi syndrome: direct comparison to autism spectrum disorder.Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
P2860
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P2860
Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Microarray based comparative g ...... enotype-phenotype correlations
@en
type
label
Microarray based comparative g ...... enotype-phenotype correlations
@en
prefLabel
Microarray based comparative g ...... enotype-phenotype correlations
@en
P2093
P2860
P356
P1476
Microarray based comparative g ...... enotype-phenotype correlations
@en
P2093
A L Beaudet
C A Bacino
J R German
N S Madduri
R Barbieri-Welge
S U Peters
T J Bichell
P2860
P304
P356
10.1136/JMG.2005.036913
P407
P577
2005-09-23T00:00:00Z