(Q37972823)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

main subject

database

0 references

renal coloboma syndrome

1 reference

3

Judith Allanson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Corinne Antignac

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Uffe Birk Jensen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Marni Falk

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Rajiv Kumar

18

1 reference

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19 January 2020

Vincent Morinière

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Luisa Murer

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

John A. Sayer

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Gerard C P Schaafsma

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Susan White

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

46

Michael Eccles

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Lisa A Schimmenti

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Laurence Heidet

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Matthew Bower

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Rémi Salomon

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Francesco Benedicenti

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Elisa Benetti

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Gil Binenbaum

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Pierre Cochat

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Stephane DeCramer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Joanne Dixon

11

1 reference

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19 January 2020

Regen Drouin

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Holly Feret

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Robert Gise

15

1 reference

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19 January 2020

Alasdair Hunter

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Kisha Johnson

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Marie Pierre Lavocat

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Laura Martin

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

David Mowat

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Hiep T Nguyen

24

1 reference

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19 January 2020

Gabriela Peretz-Amit

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Eric Pierce

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Emily Place

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Nancy Rodig

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Ann Salerno

29

1 reference

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19 January 2020

Sujatha Sastry

30

1 reference

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19 January 2020

Tadashi Sato

31

1 reference

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19 January 2020

Lawrence Shoemaker

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

David W Stockton

35

1 reference

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19 January 2020

Wen-Hann Tan

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Romano Tenconi

37

1 reference

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19 January 2020

Philippe Vanhille

38

1 reference

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19 January 2020

Abhay Vats

39

1 reference

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19 January 2020

Xinjing Wang

40

1 reference

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19 January 2020

Berta Warman

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Richard G Weleber

42

1 reference

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19 January 2020

Carolyn Wilson-Brackett

44

1 reference

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19 January 2020

Dina J Zand

45

1 reference

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19 January 2020

publication date

31 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

457-466

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

A method and server for predicting damaging missense mutations

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Optic nerve axon number in mouse is regulated by PAX2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Structural basis for DNA recognition by the human PAX3 homeodomain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Patterning and early cell lineage decisions in the developing kidney: the role of Pax genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

21 January 2018

Renal coloboma syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Ureteric Bud Apoptosis and Renal Hypoplasia in Transgenic PAX2-Bax Fetal Mice Mimics the Renal-Coloboma Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

LOVD v.2.0: the next generation in gene variant databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Pax2 expression and retinal morphogenesis in the normal and Krd mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Mapping of the human homologs of the murine paired-box-containing genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

21 January 2018

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

A common variant of the PAX2 gene is associated with reduced newborn kidney size

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

PAX2 mutations in oligomeganephronia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Mutation of PAX2 in two siblings with renal-coloboma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Genomic structure of the human PAX2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Understanding the contribution of synonymous mutations to human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Optic nerve coloboma associated with renal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

PAX2mutations in fetal renal hypodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

A clinico-genetic study of renal coloboma syndrome in children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

Renal-coloboma syndrome: report of a novel PAX2 gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22020

7 January 2021

Identifiers

DOI

10.1002/HUMU.22020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22213154%20AND%20SRC:MED&resulttype=core&format=json

release_2rao3fa27fb7tfjqlnxd4ulmmm

19 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2rao3fa27fb7tfjqlnxd4ulmmm

24 November 2022

mapped directly with Wikidata item

1 reference