(Q35762811)

10 August 2017

title

Nail-patella syndrome and its association with glaucoma: a review of eight families (English)

1 reference

10 August 2017

main subject

nail-patella syndrome

1 reference

3

J E Craig

1 reference

10 August 2017

Z Mimiwati

1

1 reference

10 August 2017

D A Mackey

2

1 reference

10 August 2017

J R Mackinnon

4

1 reference

10 August 2017

J L Rait

5

1 reference

10 August 2017

J E Liebelt

6

1 reference

10 August 2017

R Ayala-Lugo

7

1 reference

10 August 2017

D Vollrath

8

1 reference

10 August 2017

J E Richards

9

1 reference

10 August 2017

language of work or name

English

0 references

publication date

6 July 2006

1 reference

British Journal of Ophthalmology

10 August 2017

published in

1 reference

10 August 2017

volume

90

1 reference

10 August 2017

issue

12

1 reference

10 August 2017

page(s)

1505-1509

1 reference

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Genetical linkage between the ABO and nail-patella loci

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Nail-patella syndrome. Overview on clinical and molecular findings

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

LMX1B transactivation and expression in nail-patella syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Mutation analysis of LMX1B gene in nail-patella syndrome patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Nail patella syndrome: a review of 44 orthopaedic patients.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Cosegregation of open-angle glaucoma and the nail-patella syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

The 'GIST' score: ranking glaucoma for genetic studies. Glaucoma Inheritance Study of Tasmania

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

The prevalence of glaucoma in the Melbourne Visual Impairment Project.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1857543

The nail-patella syndrome

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16825280

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary Osteo-Onychodysplasia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16825280

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16825280

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BJO.2006.092619

1 reference

10 August 2017

1 reference

10 August 2017

1 reference