Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations (Q24313346)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9106533%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations (English)

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2 November 2019

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GOA release 2020-03-11

visual perception

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GOA release 2020-03-11

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1

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2 November 2019

author name string

Cunliffe HE

2

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2 November 2019

McNoe LA

3

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2 November 2019

Ward TA

4

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2 November 2019

French MC

5

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2 November 2019

Shim HH

6

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2 November 2019

Zhang YH

7

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2 November 2019

Proesmans W

8

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2 November 2019

Leys A

9

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2 November 2019

Byerly KA

10

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2 November 2019

Braddock SR

11

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2 November 2019

Masuno M

12

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2 November 2019

Imaizumi K

13

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Devriendt K

14

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2 November 2019

Eccles MR

15

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2 November 2019

language of work or name

English

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publication date

1 April 1997

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American Journal of Human Genetics

2 November 2019

published in

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2 November 2019

volume

60

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2 November 2019

issue

4

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2 November 2019

page(s)

869-878

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Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

2 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Pax2 contributes to inner ear patterning and optic nerve trajectory

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

PAX6 missense mutation in isolated foveal hypoplasia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Pax-2 controls multiple steps of urogenital development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

The human PAX6 gene is mutated in two patients with aniridia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Pax-6, a murine paired box gene, is expressed in the developing CNS

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Genomic structure of the human PAX2 gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Mutation of PAX2 in two siblings with renal-coloboma syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

PAX genes: what's new in developmental biology and cancer?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Pax6: more than meets the eye.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

A DNA polymerase alpha pause site is a hot spot for nucleotide misinsertion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

The paired box encodes a second DNA-binding domain in the paired homeo domain protein.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Genetic analyses of mammalian ear development

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Expression of the PAX2 gene in human fetal kidney and Wilms' tumor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Joubert syndrome: a review

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Delayed neural crest cell emigration from Sp and Spd mouse neural tube explants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Optic nerve coloboma associated with renal disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Comparative analysis of Pax-2 protein distributions during neurulation in mice and zebrafish.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

[On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)]

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712484

The morning glory syndrome

29 November 2018

1 reference

12 December 2020

The role of the neural crest in patterning of avian cranial skeletal, connective, and muscle tissues

1 reference

12 December 2020

Spatially and temporally restricted expression of Pax2 during murine neurogenesis

1 reference

12 December 2020

"Cat eye syndrome" with right renal agenesis. Report of a case and review of the literature

1 reference

12 December 2020

10.1203/00006450-199704001-00643

Identifiers

DOI

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2 November 2019

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