(Q57701898)

1

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Giuseppe Remuzzi

object named as

Giuseppe Remuzzi

5

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author name string

Erica Daina

2

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Caterina Mele

3

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Ramona Maranta

4

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Marina Noris

https://scigraph.springernature.com/pub.10.1007/s00467-012-2205-x

6

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publication date

4 June 2012

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published in

Pediatric Nephrology

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volume

27

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issue

10

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page(s)

1989-1993

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exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

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/10.1007%2FS00467-012-2205-X

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

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/10.1007%2FS00467-012-2205-X

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/10.1007%2FS00467-012-2205-X

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/10.1007%2FS00467-012-2205-X

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/10.1007%2FS00467-012-2205-X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

Role of remission clinics in the longitudinal treatment of CKD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

Non-identical monozygotic twins, intermediate twin types, zygosity testing, and the non-random nature of monozygotic twinning: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

Epigenetic differences arise during the lifetime of monozygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-012-2205-X

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22660956