Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus (Q33669145)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334502%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334502%20AND%20SRC:MED&resulttype=core&format=json

Duchenne muscular dystrophy

16 October 2019

main subject

1 reference

human chromosomes 6-12 and X

inferred from title

1 reference

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chromosomal translocation

10 May 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334502

10 May 2024

author name string

M. Zatz

1

1 reference

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10 May 2024

A. M. Vianna-Morgante

2

1 reference

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10 May 2024

P. Campos

3

1 reference

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10 May 2024

A. J. Diament

4

1 reference

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10 May 2024

language of work or name

English

0 references

publication date

1 December 1981

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full work available at URL

16 October 2019

https://jmg.bmj.com/content/jmedgenet/18/6/442.full.pdf

file format

Portable Document Format

online access status

open access

1 reference

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7334502/?tool=EBI

10 May 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334502

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/7334502/pdf/?tool=EBI

10 May 2024

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Portable Document Format

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http://jmg.bmjjournals.com/cgi/content/abstract/18/6/442

10 May 2024

online access status

open access

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https://europepmc.org/articles/PMC1048790

10 May 2024

1 reference

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https://europepmc.org/articles/PMC1048790?pdf=render

10 May 2024

file format

Portable Document Format

online access status

open access

content deliverer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7334502

https://syndication.highwire.org/content/doi/10.1136/jmg.18.6.442

10 May 2024

1 reference

https://api.crossref.org/works/10.1136/JMG.18.6.442

Journal of Medical Genetics

10 May 2024

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334502%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

18

1 reference

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16 October 2019

issue

6

1 reference

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16 October 2019

page(s)

442-447

1 reference

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MUSCULAR DYSTROPHY (DUCHENNE) IN A GIRL WITH TURNER'S SYNDROME.

16 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=1048790

AN ANALYSIS OF SOME DATA ON THE LINKAGE BETWEEN XG AND COLORBLINDNESS 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=1048790

Gonadal dysgenesis in a patient with an X;3 translocation: case report and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Two human X-autosome translocations identified by autoradiography and fluorescence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

X-autosome translocation in normal mother and effectively 21-monosomic daughter.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Clinical symptoms in a female carrier of Duchenne muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

A familial X-22 translocation with an extra 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=1048790

An analysis of the break points of structural rearrangements 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=1048790

Trisomy 13 with a 13-X translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Retinoblastoma and D-chromosome deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Aspermia, associated with a presumably balanced X/autosomal translocation karyotype 46, Y, t (X;5) (q28;q11)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Partial trisomy 4q syndrome: case report and review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

[Karyotype-phenotype correlation in a 46,Xdel(X) (p22) diagnosis (author's transl)].

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

X inactivation pattern in an unbalanced X-autosome translocation with gonadal dysgenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Replication pattern of the X chromosomes in three X/autosomal translocations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced 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=1048790

Follow-up on a human X-autosome translocation first studied in 1963 and 1964

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

X-inactivation pattern in three cases of X/autosome translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

G-banding patterns of high-resolution human chromosomes 6?22, X, and Y

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Report of the committee on the genetic constitution of chromosomes 10, 11, 12, X, and Y.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Four new cases of X-autosome translocation in man (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Late replication and X-autosome traslocation a case with banding patterns autoradiographic and B.U.D.R. studies (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

Progressive muscular dystrophy of the Duchenne type in females and its mode of inheritance.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

The use of concomitant serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) for carrier detection in Duchenne's muscular dystrophy through discriminant analysis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1048790

The analysis of X-linkage

30 October 2018

1 reference

12 December 2020

A rapid banding technique for human chromosomes

1 reference

12 December 2020

Differential spiralization along mammalian mitotic chromosomes. I. BUdR-revealed differentiation in Chinese hamster chromosomes

1 reference

12 December 2020

Banding patterns and autoradiographic studies of cells with an X-autosome translocation

1 reference

12 December 2020

Unbalanced X-autosomal translocation with inactivation of the normal X chromosome

1 reference

12 December 2020

[X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange]

1 reference

12 December 2020

Secondary amenorrhea associated with balanced X-autosome translocation

1 reference

12 December 2020

Presumptive evidence of two active X chromosomes in somatic cells of a human female

1 reference

12 December 2020

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

1 reference

12 December 2020

A dynamic study in two new cases of X chromosome translocations

1 reference

12 December 2020

Structural aberrations of the X chromosome in man

1 reference

12 December 2020

Familial Turner syndrome

1 reference

12 December 2020

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)

1 reference

12 December 2020

Autosomal recessive inheritance of Duchennetype muscular dystrophy.

1 reference

12 December 2020

The inheritance of muscular dystrophy

1 reference

12 December 2020

Clinical, genetic and electrocardiographic studies in childhood muscular dystrophy

1 reference

12 December 2020

Reflections on ageing and death

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.18.6.442

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334502%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7334502%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

1 reference