(Q35644299)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

author name string

Dahl N

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Hu LJ

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Chery M

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Fardeau M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Gilgenkrantz S

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Nivelon-Chevallier A

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Sidaner-Noisette I

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Mugneret F

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Gouyon JB

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

Gal A

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

language of work or name

English

0 references

publication date

1 May 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

24 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

1108-1115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders

24 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

1.5-Mb YAC contig in Xq28 formatted with sequence-tagged sites and including a region unstable in the clones

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

YAC contig organization and CpG island analysis in Xq28.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Deletion and amplification of the HGPRT locus in Chinese hamster cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

A case of female hemophilia with a 46,XXr karyotype studied with X-chromosome DNA probes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

The molecular basis of severe hemophilia B in a girl

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

A linkage study of a large pedigree with X linked centronuclear myopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Linear order of new and established DNA markers around the fragile site at Xq27.3.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Physical map of human Xq27-qter: localizing the region of the fragile X mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Vimentin and desmin in maturing skeletal muscle and developmental myopathies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Do sequences in Xq27.3 play a role in X inactivation?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Fragile X syndrome without CCG amplification has an FMR1 deletion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801465

Iduronate sulfatase from human plasma

25 September 2018

1 reference

12 December 2020

Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation

1 reference

12 December 2020

A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome

1 reference

12 December 2020

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome

1 reference

12 December 2020

Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27β): Correlation with X-inactivation status

1 reference

12 December 2020

X-linked myotubular myopathy: a linkage study

1 reference

12 December 2020

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

1 reference

12 December 2020

Report on the 20th ENMC sponsored international workshop: myotubular/centronuclear myopathy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7726166%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

7726166

1 reference