(Q38295404)

1 September 2017

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing (English)

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1 September 2017

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1

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1 September 2017

Massimo Attanasio

7

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author name string

Juliana Helou

2

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1 September 2017

Susan J Allen

3

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1 September 2017

John F O'Toole

4

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1 September 2017

Eric L Wise

5

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1 September 2017

Shazia Ashraf

6

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1 September 2017

Weibin Zhou

8

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1 September 2017

Matthias T F Wolf

9

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1 September 2017

Friedhelm Hildebrandt

10

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1 September 2017

1 March 2008

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1 September 2017

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1 September 2017

29

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1 September 2017

418-426

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1 September 2017

3

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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

1 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Retinitis pigmentosa and renal failure in a patient with mutations in INVS.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Mutation detection using a novel plant endonuclease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.20669

1 reference

7 January 2021

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Mismatch cleavage by single-strand specific nucleases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20669

7 January 2021

Identifiers

DOI

10.1002/HUMU.20669

1 reference

1 September 2017

1 reference