Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
about
Epigenetic principles and mechanisms underlying nervous system functions in health and disease22q13.3 deletion syndrome: clinical and molecular analysis using array CGHNetwork analysis of differential expression for the identification of disease-causing genes.Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS LocusDuplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.A Case of Agonadism, Skeletal Malformations, Bicuspid Aortic Valve, and Delayed Development with a 16p13.3 Duplication Including GNG13 and SOX8 Upstream Enhancers: Are Either, Both or Neither Involved in the Phenotype?Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Phenotypic manifestations of copy number variation in chromosome 16p13.11.Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature.Protein interactome reveals converging molecular pathways among autism disorders.Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorderMosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mappingBacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene--a case report.Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).Identification of critical regions for clinical features of distal 10q deletion syndrome.Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty.Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome.A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: further delineation of a critical region for the 14q32 deletion syndrome.A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.A deletion in chromosome 6q is associated with human abdominal aortic aneurysm.Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
P2860
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P2860
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Chromosomal microarray analysi ...... tient with mental retardation.
@en
Chromosomal microarray analysi ...... tient with mental retardation.
@nl
type
label
Chromosomal microarray analysi ...... tient with mental retardation.
@en
Chromosomal microarray analysi ...... tient with mental retardation.
@nl
prefLabel
Chromosomal microarray analysi ...... tient with mental retardation.
@en
Chromosomal microarray analysi ...... tient with mental retardation.
@nl
P2093
P356
P1476
Chromosomal microarray analysi ...... tient with mental retardation.
@en
P2093
A Craig Chinault
David L Nelson
Elizabeth R Roeder
Frank J Probst
Jiangzhen Li
M Lance Cooper
Patricia Eng
Robert F Stratton
Sau Wai Cheung
V Reid Sutton
P304
P356
10.1002/AJMG.A.31781
P407
P50
P577
2007-06-01T00:00:00Z