(Q33808604)

29 July 2017

title

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice (English)

1 reference

29 July 2017

author

Bettina Lorenz-Depiereux

1

object named as

Bettina Lorenz-Depiereux

0 references

Muriel Davisson

7

object named as

Muriel T Davisson

1 reference

29 July 2017

author name string

Bettina Lorenz-Depiereux

1

1 reference

29 July 2017

Victoria E Guido

2

1 reference

29 July 2017

Kenneth R Johnson

3

1 reference

29 July 2017

Qing Yin Zheng

4

1 reference

29 July 2017

Leona H Gagnon

5

1 reference

29 July 2017

Joiel D Bauschatz

6

1 reference

29 July 2017

Linda L Washburn

8

1 reference

29 July 2017

Leah Rae Donahue

9

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29 July 2017

Tim M Strom

10

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29 July 2017

Eva M Eicher

11

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29 July 2017

publication date

1 March 2004

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29 July 2017

number of pages

11

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inferred from page(s)

published in

Mammalian Genome

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29 July 2017

volume

15

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29 July 2017

issue

3

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29 July 2017

page(s)

151-161

1 reference

https://scigraph.springernature.com/pub.10.1007/s00335-003-2310-z

29 July 2017

exact match

0 references

cites work

An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

X-linked hypophosphataemia: a homologous disorder in humans and mice

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Dentofacial Development in Children with Vitamin D-Resistant Rickets

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Electrocochleographic changes in the hearing loss associated with X-linked hypophosphataemic osteomalacia.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

The Gy mutation: another cause of X-linked hypophosphatemia in mouse

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

The petrous temporal bone and deafness in X-linked hypophosphataemic osteomalacia.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Craniometric measurements of craniofacial malformations in the X‐linked hypophosphatemic (Hyp) mouse on two different genetic backgrounds: C57BL/6J and B6C3H

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

CRANIOSYNOSTOSIS IN THE RACHITIC SPECTRUM

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

The X chromosome deletion in HYP mice extends into the intergenic region but does not include the SAT gene downstream from Phex

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Impaired hearing in X-linked hypophosphataemic (vitamin-D-resistant) osteomalacia.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2859190

Patterns of matrix vesicle calcification in osteomalacia of Gyro mice

30 October 2018

1 reference

12 December 2020

Craniofacial abnormalities in mice with X-linked hypophosphatemic genes (Hyp or Gy)

1 reference

12 December 2020

Femoral abnormalities and vitamin D metabolism in X-linked hypophosphatemic (Hyp and Gy) mice

1 reference

12 December 2020

Sensorineural deafness associated with recessive hypophosphataemic rickets

1 reference

12 December 2020

Dental and cephalometric findings in vitamin D resistant rickets

1 reference

12 December 2020

Neuromuscular ataxia: a new spontaneous mutation in the mouse

1 reference

12 December 2020

Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets

1 reference

12 December 2020

10.1007/S00335-003-2310-Z

Identifiers

DOI

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29 July 2017

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29 July 2017

1 reference