(Q33671165)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

review article

1 reference

title

The fragile X syndrome: the patients and their chromosomes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference

1 reference

https://api.crossref.org/works/10.1136/JMG.21.2.84

10 October 2023

M. A. De Arce

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

10 October 2023

A. Kearns

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

10 October 2023

language of work or name

English

0 references

publication date

1 April 1984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

10 October 2019

https://jmg.bmj.com/content/21/2/84.full.pdf

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6371234/?tool=EBI

10 October 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6371234/pdf/?tool=EBI

10 October 2023

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

http://jmg.bmjjournals.com/cgi/content/abstract/21/2/84

10 October 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

https://europepmc.org/articles/PMC1049231

10 October 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

https://europepmc.org/articles/PMC1049231?pdf=render

10 October 2023

file format

Portable Document Format

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6371234

https://syndication.highwire.org/content/doi/10.1136/jmg.21.2.84

10 October 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.21.2.84

Journal of Medical Genetics

10 October 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

page(s)

84-91

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

10 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=1049231

The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial 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=1049231

X-linked mental retardation, macro-orchidism, and the Xq27 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=1049231

Autism is associated with the 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=1049231

Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Mental retardation, megalotestes and a marker X chromosome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Further delineation of X-linked 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=1049231

X-linked mental retardation with macro-orchidism and marker-X chromosomes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Expression in fibroblast culture of the satellited-X chromosome associated with familial sex-linked 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=1049231

The fragile X: a scanning electron microscope study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

The strength of association between fragile (X) chromosome presence and 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=1049231

The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Screening of mentally retarded males for macro-orchidism and the fragile X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

The fragile X chromosome: Current methods

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Activity of the fragile X in heterozygous carriers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Association of fragile X syndrome with autism.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Chromosome banding required for studies on X-linked 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=1049231

Testicular size: assessment and clinical importance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

21 June 2018

A marker X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Testicular volume during adolescence. Cross-sectional and longitudinal studies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-linked mental retardation and verbal disability.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-linked mental retardation associated with macro-orchidism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Constitutional chromosomal breakage.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Inherited congenital normofunctional testicular hyperplasia and mental deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Marker X chromosomes and 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=1049231

Familial X-linked mental retardation with an X chromosome abnormality

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

More on marker X chromosomes, mental retardation and macro-orchidism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Distribution of spontaneous chromosome breaks in man

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Marker X chromosomes, mental retardation and macro-orchidism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-Linked Mental Deficiency Megalotestes 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=1049231

X-Linked mental retardation with macro-orchidism and the fragile site at Xq27 or 28

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-linked mental retardation with macro-orchidism and marker X chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Familial X-linked mental retardation, verbal disability, and marker X chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-linked recessively inherited non-specific mental retardation. Report of a large family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Fragile X-linked mental retardation: the Martin-Bell syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-linked mental retardation: a study of 7 families.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

The expression of fragile X chromosomes in members of the same family at different times of examination.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Marker X syndrome in an oriental family with probable transmission by a normal male.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

X-linked mental retardation and fragile-X or marker-X syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Fragile (X) X-linked mental retardation I: relationship between age and intelligence and the frequency of expression of fragil (X)(q28).

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Screening for fra(X)(q) in a population of mentally retarded males.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

Marker X-associated mental retardation. A study of 150 retarded males.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049231

On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression

30 October 2018

1 reference

12 December 2020

Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the fragile site at Xq28, fra(X)(q28)

1 reference

12 December 2020

Expression in lymphocyte and fibroblast culture of the fragile X chromosome: A new technical approach

1 reference

12 December 2020

Fragile X chromosome in normal males

1 reference

12 December 2020

Transmission of fragile (X) (q27) site from a male

1 reference

12 December 2020

A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome

1 reference

12 December 2020

Fragile X in a normal male: a cautionary tale

1 reference

12 December 2020

Fragile X-linked mental retardation

1 reference

12 December 2020

Feasibility of fragile X chromosome prenatal diagnosis demonstrated

1 reference

12 December 2020

Prenatal detection of a fetus hemizygous for the fragile X-chromosome

1 reference

12 December 2020

Tables for the cytogenetic study of fragile X chromosomes for diagnostic purposes

1 reference

12 December 2020

Marker X chromosome induction in fibroblasts by FUdR

1 reference

12 December 2020

Methods of increasing the visibility of fragile X chromosomes

1 reference

12 December 2020

A simple method to demonstrate the fragile X chromosome in fibroblasts

1 reference

12 December 2020

1 reference

12 December 2020

Transmission of fragile (X)(q27) from normal male(s)

1 reference

12 December 2020

1 reference

12 December 2020

Increase in the incidence of the fragile site Xq27 in prometaphases

1 reference

12 December 2020

Is the fragile X syndrome amenable to treatment?

1 reference

12 December 2020

Apparent homozygosity for the fragile site at Xq28 in a normal female

series ordinal

3

1 reference

https://api.crossref.org/works/10.1136/JMG.21.2.84

10 October 2023

Identifiers

DOI

10.1136/JMG.21.2.84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6371234%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference