(Q33584573)

28 July 2017

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci (English)

1 reference

chromosomal translocation

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

26 February 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.16.4.254

26 February 2023

author name string

R. Bernstein

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

26 February 2023

B. Dawson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

26 February 2023

R. Kohl

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

26 February 2023

T. Jenkins

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

26 February 2023

language of work or name

English

0 references

publication date

1 August 1979

1 reference

full work available at URL

28 July 2017

http://jmg.bmjjournals.com/cgi/content/abstract/16/4/254

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/290816/?tool=EBI

26 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/290816/pdf/?tool=EBI

26 February 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

https://europepmc.org/articles/PMC1012665

26 February 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

https://europepmc.org/articles/PMC1012665?pdf=render

26 February 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A290816

https://syndication.highwire.org/content/doi/10.1136/jmg.16.4.254

26 February 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.16.4.254

Journal of Medical Genetics

26 February 2023

published in

1 reference

28 July 2017

16

1 reference

28 July 2017

254-262

1 reference

28 July 2017

4

1 reference

Polymorphism of Soluble Glutamic-Pyruvic Transaminase: A New Genetic Marker in Man

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012665

Autoradiographic studies on X-autosomal translocation in man: 45,X.15-,tan(15qZq+)+

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012665

Multiple abnormalities due to possible genetic inactivation in an 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=1012665

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=1012665

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=1012665

Esterase D: a new human polymorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012665

Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase 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=1012665

High Resolution of Human 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=1012665

Differences in human X isochromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012665

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=1012665

Polymorphism of red cell glyoxalase I (EI: 4.4.1.5); a new genetic marker in man. Investigation of 169 mother-child combinations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012665

[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=1012665

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=1012665

The status of the gene map of the human 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=1012665

A simple R banding technic

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1012665

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=1012665

A simple technique for demonstrating centromeric heterochromatin

21 June 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

[Staining of human chromosomes with acridine orange after treatment with 5 bromodeoxyuridine]

1 reference

12 December 2020

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

1 reference

12 December 2020

The detection and differentiation of the products of the human carbonic anhydrase loci, CAI and CAII using fluorogenic substrates

1 reference

12 December 2020

Abnormal X chromosomes in man: Origin, behavior and effects

1 reference

12 December 2020

Incontinentia pigmenti (Bloch-Sulzberger syndrome). A report of four additional cases

1 reference

12 December 2020

Autoradiographic investigations of centric fragments and rings in patients with stigmata of gonadal dysgenesis

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.16.4.254

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=290816

26 February 2023

1 reference

28 July 2017

1 reference