Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. (Q54422292)

29 May 2018

title

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis. (English)

1 reference

29 May 2018

author

Catalina Betancur

13

1 reference

29 May 2018

Andrée Delahaye

object named as

Andrée Delahaye

9

0 references

Alain Verloes

11

object named as

Alain Verloes

1 reference

29 May 2018

Anne-Claude Tabet

1

1 reference

29 May 2018

Azzedine Aboura

2

1 reference

29 May 2018

Marion Gérard

3

1 reference

29 May 2018

Marion Pilorge

4

1 reference

29 May 2018

Céline Dupont

5

1 reference

29 May 2018

Jean-François Gadisseux

6

1 reference

29 May 2018

Nadège Hervy

7

1 reference

29 May 2018

Eva Pipiras

8

1 reference

29 May 2018

Samia Kanafani

10

1 reference

29 May 2018

Brigitte Benzacken

12

1 reference

29 May 2018

language of work or name

English

0 references

publication date

1 July 2010

1 reference

29 May 2018

American Journal of Medical Genetics

published in

1 reference

29 May 2018

volume

152A

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29 May 2018

issue

7

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29 May 2018

page(s)

1781-1788

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29 May 2018

Metabotropic glutamate 1 receptor: current concepts and perspectives.

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Mutations in the iodotyrosine deiodinase gene and hypothyroidism

4 June 2018

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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

4 June 2018

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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

4 June 2018

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Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue

4 June 2018

1 reference

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Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH.

4 June 2018

1 reference

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The role of utrophin in the potential therapy of Duchenne muscular dystrophy

4 June 2018

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Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.

4 June 2018

1 reference

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Interstitial 6q duplication in an adult male without growth delay or severe mental retardation.

4 June 2018

1 reference

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Dystrophin and utrophin: genetic analyses of their role in skeletal muscle

4 June 2018

1 reference

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A second promoter provides an alternative target for therapeutic up-regulation of utrophin in Duchenne muscular dystrophy

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Partial trisomy of chromosome 6q: an interstitial duplication of the long arm.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

4 June 2018

1 reference

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Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy

4 June 2018

1 reference

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Mild "duplication 6q syndrome": a case with partial trisomy (6)(q23.3q25.3).

4 June 2018

1 reference

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Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome-6-specific library demonstrates the origin of a de novo 6q+ marker chromosome.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting.

4 June 2018

1 reference

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Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Delineation of syndromes due to partial 6q imbalances. Trisomy 6q21 leads to qter and monosomy 6q221 leads to qter in two unrelated patients.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

4 June 2018

Duplication 6q syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Pure familial 6q21q22.1 duplication in two generations.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Dystrophin and utrophin do not play crucial roles in nonmuscle tissues in mice.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Duplication 6q21q23 in two unrelated patients.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2962443

Duplication (6q) syndrome diagnosedin utero

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20583184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Three cases with de novo 6q imbalance and variable prenatal phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20583184

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33433

1 reference

29 May 2018

PMCID

2962443

1 reference

29 May 2018

PubMed ID

20583184

1 reference

29 May 2018