(Q35643426)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE (English)

1 reference

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20 October 2019

5

1 reference

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20 October 2019

author name string

A K Gedeon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

M Meinänen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

L C Adès

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

H Kääriäinen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

E Baker

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

G R Sutherland

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

J C Mulley

8

1 reference

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20 October 2019

language of work or name

English

0 references

publication date

1 April 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 October 2019

published in

1 reference

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20 October 2019

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

issue

4

1 reference

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20 October 2019

page(s)

907-914

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

A point mutation in the FMR-1 gene associated with fragile X mental retardation

20 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=1801213

Fine structure of the human FMR1 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

The rates and patterns of deletions in the human factor IX gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Fragile X genotype characterized by an unstable region of DNA.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Absence of expression of the FMR-1 gene in fragile X syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Fragile X syndrome without CCG amplification has an FMR1 deletion

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801213

Genomic Organization of Human Centromeric Alpha Satellite DNA: Characterization of a Chromosome 17 Alpha Satellite Sequence

25 September 2018

1 reference

12 December 2020

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

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

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28

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

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7536393%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

PubMed publication ID

7536393

1 reference