Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre (Q33276927)

19 April 2018

title

Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre (English)

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19 April 2018

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Joo Wook Ahn

1

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19 April 2018

Caroline Mackie Ogilvie

2

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19 April 2018

Alysia Welch

3

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19 April 2018

Helen Thomas

4

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19 April 2018

Rajiv Madula

5

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19 April 2018

Alison Hills

6

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19 April 2018

Celia Donaghue

7

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19 April 2018

Kathy Mann

8

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19 April 2018

publication date

5 March 2007

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19 April 2018

published in

BMC Medical Genetics

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19 April 2018

volume

8

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19 April 2018

page(s)

9

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19 April 2018

https://scigraph.springernature.com/pub.10.1186/1471-2350-8-9

exact match

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cites work

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

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Fine-scale structural variation of the human genome

21 June 2018

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

21 June 2018

1 reference

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Detection of large-scale variation in the human genome

21 June 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1831468

Large-scale copy number polymorphism in the human genome

21 June 2018

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Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

21 June 2018

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Telomeres: a diagnosis at the end of the chromosomes

21 June 2018

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Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method

21 June 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 June 2018

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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

21 June 2018

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

21 June 2018

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

21 June 2018

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Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

21 June 2018

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Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients.

21 January 2018

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Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.

21 January 2018

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Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.

21 January 2018

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

21 January 2018

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Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

21 January 2018

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Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

21 January 2018

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High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation.

21 January 2018

1 reference

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Characterization of terminal chromosome anomalies using multisubtelomere FISH.

21 January 2018

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An efficient salt-chloroform extraction of DNA from blood and tissues

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17338807

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-8-9

1 reference

19 April 2018

PMCID

1831468

1 reference

19 April 2018

PubMed ID

17338807

1 reference

19 April 2018