(Q30668630)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

3

1 reference

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9 January 2020

4

Roberto Ravazzolo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

2

Francesca Giacopelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Monica Marini

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

publication date

1 June 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

13

1 reference

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9 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

789-792

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15785774%20AND%20SRC:MED&resulttype=core&format=json

Nail-patella syndrome. Overview on clinical and molecular findings

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

The role of PAX2 in normal and abnormal development of the urinary tract.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Six1 is required for the early organogenesis of mammalian kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

PAX2 mutations in oligomeganephronia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

The PAX2 tanscription factor is expressed in cystic and hyperproliferative dysplastic epithelia in human kidney malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Tlx3 and Tlx1 are post-mitotic selector genes determining glutamatergic over GABAergic cell fates

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405

A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201405