Experience with direct molecular diagnosis of fragile X (Q33594081)

https://api.crossref.org/works/10.1136/JMG.29.6.368

28 July 2017

title

Experience with direct molecular diagnosis of fragile X (English)

1 reference

16 October 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.29.6.368

16 October 2022

10

G R Sutherland

1 reference

28 July 2017

6

D. Loesch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619631

16 October 2022

author name string

J. C. Mulley

1

1 reference

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16 October 2022

S. Yu

2

1 reference

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16 October 2022

A. K. Gedeon

3

1 reference

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16 October 2022

A. Donnelly

4

1 reference

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16 October 2022

G. Turner

5

1 reference

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16 October 2022

C. J. Chapman

7

1 reference

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16 October 2022

R. J. Gardner

8

1 reference

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16 October 2022

R. I. Richards

9

1 reference

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16 October 2022

language of work or name

English

0 references

publication date

1 June 1992

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1015984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1619631

https://europepmc.org/articles/PMC1015984?pdf=render

16 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

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https://syndication.highwire.org/content/doi/10.1136/jmg.29.6.368

16 October 2022

1 reference

https://api.crossref.org/works/10.1136/JMG.29.6.368

Journal of Medical Genetics

16 October 2022

published in

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28 July 2017

volume

29

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28 July 2017

issue

6

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28 July 2017

page(s)

368-374

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

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D-8) and DXS105 (cX55.7).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015984

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1619631

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal diagnosis of fragile X syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1619631

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

https://api.crossref.org/works/10.1136/JMG.29.6.368

2

1 reference

16 October 2022

Identifiers

DOI

10.1136/JMG.29.6.368

1 reference

28 July 2017

1 reference

28 July 2017

1 reference