Fragile-X syndrome: unique genetics of the heritable unstable element (Q35195444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

title

Fragile-X syndrome: unique genetics of the heritable unstable element (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

author name string

Yu S

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Mulley J

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Loesch D

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Turner G

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Donnelly A

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Gedeon A

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Hillen D

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Lynch M

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

Pritchard M

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

language of work or name

English

0 references

publication date

1 May 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

21 September 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

page(s)

968-980

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

A highly polymorphic locus in human DNA

21 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Variation among human 28S ribosomal RNA genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Proposed mechanism of inheritance and expression of the human fragile-X syndrome of mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Unique organization of the human BCR gene promoter

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

The CEPH consortium linkage map of human chromosome 1

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Fragile X genotype characterized by an unstable region of DNA.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Subunit promiscuity among hemopoietic growth factor receptors

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

The marker (X) syndrome: a cytogenetic and genetic analysis.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Hereditary unstable DNA: a new explanation for some old genetic questions?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682586

Segregation analysis of rare autosomal fragile sites

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1570846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage and genetic counselling for the fragile X using DNA probes 52A, F9, DX13, and ST14

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1570846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic mapping of new RFLPs at Xq27–q28

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1570846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1570846%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

PubMed publication ID

1570846

1 reference