(Q28301576)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

main subject

nail-patella syndrome

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Ji Wan Park

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Dunston JA

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Malbroux M

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

McIntosh I

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

1 January 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

published in

Annals of Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

Pt 1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

1-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15638822%20AND%20SRC:MED&resulttype=core&format=json

Lmx1b is essential for the development of serotonergic neurons

7 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1046/J.1529-8817.2004.00133.X

LMX1B transactivation and expression in nail-patella syndrome

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1529-8817.2004.00133.X

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1529-8817.2004.00133.X

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1529-8817.2004.00133.X

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1529-8817.2004.00133.X

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

21 April 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

Multiple calvarial defects in lmx1b mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

The pleiotropic effects of fibroblast growth factor receptors in mammalian development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

Relationship between genotype and phenotype in monogenic diseases: relevance to polygenic diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

Nail patella syndrome: a review of the phenotype aided by developmental biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X

ALC (adjacent to LMX1 in chick) is a novel dorsal limb mesenchyme marker

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1529-8817.2004.00133.X