(Q33677696)

28 July 2017

title

X chromosome inactivation pattern in female carriers of X linked hypophosphataemic rickets (English)

1 reference

28 July 2017

Orstavik KH

1

1 reference

28 July 2017

Orstavik RE

series ordinal

2

1 reference

28 July 2017

Halse J

series ordinal

3

1 reference

28 July 2017

Knudtzon J

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 August 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

33

1 reference

28 July 2017

issue

8

1 reference

28 July 2017

page(s)

700-703

1 reference

Gene action in the X-chromosome of the mouse (Mus musculus L.)

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

Carrier detection in the Wiskott Aldrich syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

Selection against lethal alleles in females heterozygous for incontinentia pigmenti

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

X-linked hypophosphatemia: the mutant gene is expressed in teeth as well as in kidney

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050707

The normal range of serum inorganic phosphorus and its utility as a discriminant in the diagnosis of congenital hypophosphatemia

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8863165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1?22.2)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8863165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8863165

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.8.700

1 reference

28 July 2017

1 reference

28 July 2017

1 reference