Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. (Q35239163)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981959 AND SRC:MED&resulttype=core&format=json

22 October 2019

title

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy (English)

1 reference

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22 October 2019

author name string

Quan F

1

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22 October 2019

Janas J

2

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22 October 2019

Toth-Fejel S

3

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22 October 2019

Johnson DB

4

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22 October 2019

Wolford JK

5

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22 October 2019

Popovich BW

6

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22 October 2019

language of work or name

English

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publication date

1 January 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981959 AND SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

22 October 2019

published in

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22 October 2019

volume

60

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22 October 2019

issue

1

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22 October 2019

page(s)

160-165

1 reference

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Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis

22 October 2019

cites work

1 reference

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Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Exclusively paternal X chromosomes in a girl with short stature

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Uniparental disomy revisited: the first twelve years

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Exon structure of the human dystrophin gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Muscular dystrophy in girls with X;autosome translocations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Uniparental disomy as a mechanism for human genetic disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Do twin Lyons have larger spots?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

Discordance of muscular dystrophy in monozygotic female twins: Evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712557

In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy

15 November 2018

1 reference

12 December 2020

Late DNA Replication in the Paternally Derived X Chromosome of Female Kangaroos

1 reference

12 December 2020

Phosphoglycerate kinase polymorphism in kangaroos provides further evidence for paternal X inactivation

1 reference

12 December 2020

Preferential X-chromosome activity in human female placental tissues

1 reference

12 December 2020

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

1 reference

12 December 2020

X-chromosome inactivation in the human cytotrophoblast

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8981959 AND SRC:MED&resulttype=core&format=json

22 October 2019

PubMed publication ID

8981959

1 reference