The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
about
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDHExpanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesPsychomotor retardation with a 1q42.11–q42.12 deletionSequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic herniaIdentification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.Molecular cytogenetics and cytogenomics of brain diseases.DIA1R is an X-linked gene related to Deleted In Autism-1.Tissue distribution and functional analysis of Sushi domain-containing protein 4.Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.Genetic aspects of human congenital diaphragmatic hernia.Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsDetection limit of intragenic deletions with targeted array comparative genomic hybridization.Genetic causes of congenital diaphragmatic herniaDisorders caused by chromosome abnormalities.Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromesNew insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Prenatal testing for intellectual disability: misperceptions and reality with lessons from Down syndrome.PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalitiesMicrodeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.Contemplating effects of genomic structural variation.Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy.The clinical context of copy number variation in the human genome.A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.Clinical laboratory implementation of cytogenomic microarrays.Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.Detection and interpretation of genomic structural variation in health and disease.Fluorescence in situ hybridization techniques in medical diagnostics.Making headway with genetic diagnostics of intellectual disabilities.Pharmacogenetics of antidepressant treatment in obsessive-compulsive disorder: an update and implications for clinicians.The mammalian molybdenum enzymes of mARC.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.
P2860
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P2860
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
The discovery of microdeletion ...... q41q42 microdeletion syndrome.
@en
type
label
The discovery of microdeletion ...... q41q42 microdeletion syndrome.
@en
prefLabel
The discovery of microdeletion ...... q41q42 microdeletion syndrome.
@en
P2093
P2860
P1433
P1476
The discovery of microdeletion ...... q41q42 microdeletion syndrome.
@en
P2093
Aaron Theisen
Arthur S Aylsworth
Bassem A Bejjani
Blake C Ballif
Cynthia Lim
Dana Kostiner
Jay W Ellison
Lisa G Shaffer
Marie McDonald
Sulagna Saitta
P2860
P2888
P304
P356
10.1097/GIM.0B013E3181484B49
P407
P577
2007-09-01T00:00:00Z
P6179
1016513285