(Q35202357)

7 August 2017

Evidence for preferential X-chromosome inactivation in a family with Fabry disease (English)

1 reference

7 August 2017

1 reference

H. H. Ropers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A406783

29 June 2022

T. F. Wienker

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A406783

29 June 2022

T. Grimm

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A406783

29 June 2022

K. Schroetter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A406783

29 June 2022

K. Bender

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A406783

29 June 2022

language of work or name

English

0 references

publication date

1 July 1977

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/406783/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A406783

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/406783/pdf/?tool=EBI

29 June 2022

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%3A406783

https://europepmc.org/articles/PMC1685395

29 June 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A406783

https://europepmc.org/articles/PMC1685395?pdf=render

29 June 2022

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%3A406783

American Journal of Human Genetics

29 June 2022

published in

1 reference

7 August 2017

29

1 reference

7 August 2017

361-370

1 reference

7 August 2017

4

1 reference

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

The applications of genetic mosaicism to developmental problems

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

X chromosome inactivation mosaicism in the mouse

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

Fabry's disease: heterozygote detection by hair root analysis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

Residual activity of alpha-galactosidase A in Fabry's disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

Genetic determination of the α-galactosidase developmental program in mice

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685395

The manifesting carrier in Duchenne muscular dystrophy

13 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/406783

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage relationships of the angiokeratoma (Fabry) locus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/406783

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Complementation after fusion of Sandhoff- and Tay-Sachs fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/406783

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1685395

1 reference

7 August 2017

1 reference