Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). (Q35444544)

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

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6 January 2020

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

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6 January 2020

Carolien G de Kovel

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6 January 2020

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Koolen DA

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6 January 2020

Nillesen WM

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6 January 2020

Versteeg MH

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6 January 2020

Merkx GF

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6 January 2020

Knoers NV

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6 January 2020

Kets M

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6 January 2020

Vermeer S

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6 January 2020

van Ravenswaaij CM

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6 January 2020

Brunner HG

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6 January 2020

Smeets D

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6 January 2020

de Vries BB

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6 January 2020

Sistermans EA

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1 December 2004

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6 January 2020

Journal of Medical Genetics

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6 January 2020

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6 January 2020

892-899

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6 January 2020

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6 January 2020

Telomeres: a diagnosis at the end of the chromosomes

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27 July 2018

THE COMPLEX STRUCTURE AND DYNAMIC EVOLUTION OF HUMAN SUBTELOMERES

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27 July 2018

De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon

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27 July 2018

Chromosomal aberrations, subtelomeric defects, and mental retardation.

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27 July 2018

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

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27 July 2018

Cryptic translocation t(5;18) in familial mental retardation

1 reference

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27 July 2018

An optimized set of human telomere clones for studying telomere integrity and architecture.

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27 July 2018

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

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27 July 2018

Subtle chromosomal rearrangements in children with unexplained mental retardation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735655

27 July 2018

1 reference

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27 July 2018

Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6.

1 reference

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27 July 2018

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

1 reference

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27 July 2018

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735655

27 July 2018

Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735655

27 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

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27 July 2018

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

1 reference

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26 September 2018

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

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26 September 2018

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.

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26 September 2018

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

1 reference

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26 September 2018

Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.

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26 September 2018

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

1 reference

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26 September 2018

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

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26 September 2018

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

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26 September 2018

The end of the beginning of chromosome ends

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12 December 2020

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10.1136/JMG.2004.023671

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6 January 2020

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6 January 2020

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6 January 2020

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