(Q51888078)

English

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

scientific article published on 24 July 2008

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

author name string

C Bonnet

1

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

M-J Grégoire

2

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

M Vibert

3

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

E Raffo

4

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

B Leheup

5

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

P Jonveaux

6

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

publication date

24 July 2008

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

53

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

10

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

876-885

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

https://scigraph.springernature.com/pub.10.1007/s10038-008-0321-z

0 references

An interstitial deletion of chromosome 7 at band q21: a case report and review.

1 reference

https://api.crossref.org/works/10.1007%2FS10038-008-0321-Z

21 January 2018

Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

1 reference

https://api.crossref.org/works/10.1007%2FS10038-008-0321-Z

21 January 2018

Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.

1 reference

https://api.crossref.org/works/10.1007%2FS10038-008-0321-Z

21 January 2018

Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Parental and chromosomal origin of unbalanced de novo structural chromosome abnormalities in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of Peg10, an imprinted gene acquired from a retrotransposon, causes early embryonic lethality

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus-dystonia: significance of large SGCE deletions

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Further refinement of the candidate region for monosomy 9p syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The transcription factor gene Nfib is essential for both lung maturation and brain development

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion mapping of split hand/split foot malformation with hearing impairment: a case report

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA methylation mapping by tag-modified bisulfite genomic sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Syncytin is a captive retroviral envelope protein involved in human placental morphogenesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cellular localization of placenta-specific human endogenous retrovirus (HERV) transcripts and their possible implication in pregnancy-induced hypertension

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/18651096

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-008-0321-Z

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 April 2018

http://europepmc.org/abstract/MED/18651096

ResearchGate publication ID

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