Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis. (Q54629947)

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English	Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis.	scientific article

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9 January 2020

Computational analysis and refinement of sequence structure on chromosome 22q11.2 region: application to the development of quantitative real-time PCR assay for clinical diagnosis (English)

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9 January 2020

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9 January 2020

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Ying-Fan Chen

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9 January 2020

Po-Lin Kou

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9 January 2020

Ko-Fan Chen

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9 January 2020

Hsiang-Han Chan

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9 January 2020

Chung-Ming Chen

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9 January 2020

H Sunny Sun

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22 November 2005

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9 January 2020

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9 January 2020

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9 January 2020

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9 January 2020

290-297

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9 January 2020

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

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Initial sequencing and analysis of the human genome

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Molecular mechanisms for genomic disorders

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A population study of chromosome 22q11 deletions in infancy

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Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

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Genomic disorders on 22q11

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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

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The DNA sequence of human chromosome 22

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A common molecular basis for rearrangement disorders on chromosome 22q11

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7 January 2021

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

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7 January 2021

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

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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

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A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities

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7 January 2021

DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion

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7 January 2021

High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups

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A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications

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7 January 2021

Rapid detection of the 22q11.2 deletion with quantitative real-time PCR.

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7 January 2021

Chromosome translocation can occur on either side of the c-myc oncogene in Burkitt lymphoma cells

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7 January 2021

Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases

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7 January 2021

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

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A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

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A quantitative polymerase chain reaction method for determining copy number within the Prader-Willi/Angelman syndrome critical region

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Scanning of Y-chromosome azoospermia factors loci using real-time polymerase chain reaction and melting curve analysis

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Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

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