(Q33387968)

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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 July 2017

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Matteo Bovolenta

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Matteo Bovolenta

1

0 references

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Pietro Spitali

9

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Luciano Merlini

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Luciano Merlini

19

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author name string

Marcella Neri

2

1 reference

Europe PubMed Central

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26 July 2017

Sergio Fini

3

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Europe PubMed Central

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26 July 2017

Marina Fabris

4

1 reference

Europe PubMed Central

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26 July 2017

Cecilia Trabanelli

5

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Europe PubMed Central

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26 July 2017

Anna Venturoli

6

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Europe PubMed Central

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26 July 2017

Elena Martoni

7

1 reference

Europe PubMed Central

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26 July 2017

Elena Bassi

8

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Europe PubMed Central

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26 July 2017

Simona Brioschi

10

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Europe PubMed Central

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26 July 2017

Maria S Falzarano

11

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Europe PubMed Central

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26 July 2017

Paola Rimessi

12

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Europe PubMed Central

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26 July 2017

Roberto Ciccone

13

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Europe PubMed Central

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26 July 2017

Emma Ashton

14

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Europe PubMed Central

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26 July 2017

Joanne McCauley

15

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Europe PubMed Central

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26 July 2017

Shu Yau

16

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Europe PubMed Central

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26 July 2017

Stephen Abbs

17

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26 July 2017

Francesco Muntoni

18

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26 July 2017

Francesca Gualandi

20

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26 July 2017

Alessandra Ferlini

21

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26 July 2017

language of work or name

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publication date

28 November 2008

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26 July 2017

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Europe PubMed Central

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26 July 2017

9

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Europe PubMed Central

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26 July 2017

572

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Europe PubMed Central

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26 July 2017

Transcriptional behavior of DMD gene duplications in DMD/BMD males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Technology insight: therapy for Duchenne muscular dystrophy-an opportunity for personalized medicine?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Genetic treatments in muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Medical applications of array CGH and the transformation of clinical cytogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Breast tumor copy number aberration phenotypes and genomic instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Identification of disease genes by whole genome CGH arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Experience and strategy for the molecular testing of Duchenne muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Application of in vitro Myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

21 June 2018

Array comparative genomic hybridization in global developmental delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

31 October 2018

Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

31 October 2018

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

31 October 2018

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

31 October 2018

Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

31 October 2018

Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

31 October 2018

The role of 3'-untranslated region (3'-UTR) mediated mRNA stability in cardiovascular pathophysiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2612025

31 October 2018

Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/19040728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Local dystrophin restoration with antisense oligonucleotide PRO051

1 reference

https://pubmed.ncbi.nlm.nih.gov/19040728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skipping toward personalized molecular medicine

1 reference

https://pubmed.ncbi.nlm.nih.gov/19040728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19040728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19040728

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2164-9-572

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Dimensions Publication ID

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2164-9-572

9 September 2019

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

ResearchGate publication ID

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