Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.
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Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions22q11.2 Distal Deletion Syndrome: Description of a New Case with Truncus Arteriosus Type 2 and ReviewOf mice and men: molecular genetics of congenital heart diseaseA French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHDetection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewAtypical 22q11.2 deletion in a patient with DGS/VCFS spectrumConstitutional chromosomal events at 22q11 and 15q26 in a child with a pilocytic astrocytoma of the spinal cord.Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.Monogenic and chromosomal causes of isolated speech and language impairment.Genotype-phenotype correlation in 22q11.2 deletion syndrome.Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspringMapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.Disorders caused by chromosome abnormalities.A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three familiesMolecular characterization of deletion breakpoints in adults with 22q11 deletion syndromeA defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta SyndromeA modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb DuplicationDGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.The use of two different MLPA kits in 22q11.2 deletion syndrome.Cardiomyocyte-specific conditional knockout of the histone chaperone HIRA in mice results in hypertrophy, sarcolemmal damage and focal replacement fibrosis.Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery.Risk of malignancy in 22q11.2 deletion syndrome.Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete AthymiaSixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion sizeCo-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.
P2860
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P2860
Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Systematic assessment of atypi ...... notype correlation in 22q11.2.
@en
Systematic assessment of atypi ...... notype correlation in 22q11.2.
@nl
type
label
Systematic assessment of atypi ...... notype correlation in 22q11.2.
@en
Systematic assessment of atypi ...... notype correlation in 22q11.2.
@nl
prefLabel
Systematic assessment of atypi ...... notype correlation in 22q11.2.
@en
Systematic assessment of atypi ...... notype correlation in 22q11.2.
@nl
P2093
P50
P356
P1476
Systematic assessment of atypi ...... notype correlation in 22q11.2.
@en
P2093
P304
P356
10.1136/JMG.2004.030619
P407
P577
2005-04-14T00:00:00Z