Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays (Q83163623)

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scientific article published on 01 May 2006

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English	Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays	scientific article published on 01 May 2006

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scholarly article

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19 January 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays (English)

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19 January 2020

author name string

Jeffrey E Ming

1

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19 January 2020

Elizabeth Geiger

2

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19 January 2020

Alison C James

3

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19 January 2020

Karen L Ciprero

4

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19 January 2020

Manjunath Nimmakayalu

5

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19 January 2020

Yi Zhang

6

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19 January 2020

Andrew Huang

7

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19 January 2020

Madhavi Vaddi

8

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19 January 2020

Eric Rappaport

9

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19 January 2020

Elaine H Zackai

10

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19 January 2020

Tamim H Shaikh

11

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publication date

1 May 2006

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19 January 2020

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19 January 2020

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19 January 2020

5

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19 January 2020

467-473

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19 January 2020

The genetics of mental retardation

1 reference

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21 January 2018

Whole genome DNA copy number changes identified by high density oligonucleotide arrays

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21 January 2018

Genomic microarrays in human genetic disease and cancer

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Chromosome aberrations in solid tumors

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

1 reference

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7 January 2021

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Subtelomeric rearrangements detected in patients with idiopathic mental retardation

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Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

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A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

1 reference

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Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21

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Diagnostic genome profiling in mental retardation

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

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Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray

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Detection of large-scale variation in the human genome

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7 January 2021

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Structure of chromosomal duplicons and their role in mediating human genomic disorders

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Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors

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BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

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7 January 2021

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Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

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7 January 2021

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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7 January 2021

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Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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7 January 2021

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A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

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Molecular karyotyping using an SNP array for genomewide genotyping.

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Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

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7 January 2021

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Large-scale copy number polymorphism in the human genome

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7 January 2021

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Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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Segmental duplications and copy-number variation in the human genome

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

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7 January 2021

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

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7 January 2021

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Assembly of microarrays for genome-wide measurement of DNA copy number

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Identifiers

10.1002/HUMU.20322

1 reference

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19 January 2020

1 reference

Europe PubMed Central

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19 January 2020

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