X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? (Q33594464)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

title

X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference

1

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15 September 2019

author name string

F Flinter

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

M Bobrow

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

A Harris

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

language of work or name

English

0 references

publication date

1 September 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

15 September 2019

published in

1 reference

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15 September 2019

volume

29

1 reference

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15 September 2019

issue

9

1 reference

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15 September 2019

page(s)

663-666

1 reference

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Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase

15 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016101

Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016101

Localization of the gene for X-linked Alport's 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=1016101

Use of restriction fragment length polymorphisms to determine the clonal origin of human tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016101

Genetics of classic Alport's 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=1016101

Localization of the gene for classic Alport 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=1016101

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016101

Identification of mutations in the COL4A5 collagen gene in Alport 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=1016101

Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport 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=1016101

X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016101

Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1404298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage studies in X-linked Alport's syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1404298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1404298

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.29.9.663

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1404298%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference