(Q28258859)

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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation

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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation (English)

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Adrianus Henricus Maria Geurts van Kessel

10

object named as

Ad Geurts van Kessel

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object named as

Didier Lacombe

4

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Joris A Veltman

object named as

Joris A Veltman

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Bert B A de Vries

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object named as

Bert B A de Vries

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Ad Geurts van Kessel

10

object named as

Ad Geurts van Kessel

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Ernie M H F Bongers

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object named as

Ernie M H F Bongers

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author name string

David A Koolen

1

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William Reardon

2

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Elisabeth M Rosser

3

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Jane A Hurst

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Caroline J Law

6

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Conny M van Ravenswaaij-Arts

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Martijn A R Leisink

9

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language of work or name

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publication date

September 2005

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European Journal of Human Genetics

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13

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9

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1019-24

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Telomeres: a diagnosis at the end of the chromosomes

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum

1 reference

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21 January 2018

22q13 deletion syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

1 reference

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A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

FISH-mapping of a 100-kb terminal 22q13 deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

1 reference

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21 January 2018

Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions

1 reference

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21 January 2018

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Molecular-evolutionary mechanisms for genomic disorders

1 reference

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21 January 2018

Large-scale copy number polymorphism in the human genome

1 reference

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21 January 2018

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

21 January 2018

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201456

7 January 2021

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10.1038/SJ.EJHG.5201456

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