(Q48450633)

11 February 2018

title

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association (English)

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11 February 2018

author

Gianluca Caridi

1

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11 February 2018

Luisa Murer

8

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11 February 2018

Gian Marco Ghiggeri

10

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11 February 2018

Enrico Bertini

5

object named as

Bertini E

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11 February 2018

author name string

Dagnino M

2

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11 February 2018

Rossi A

3

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11 February 2018

Valente EM

4

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11 February 2018

Fazzi E

6

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11 February 2018

Emma F

7

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11 February 2018

Verrina E

9

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11 February 2018

language of work or name

English

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publication date

9 August 2006

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11 February 2018

published in

Kidney International

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11 February 2018

volume

70

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11 February 2018

issue

7

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11 February 2018

page(s)

1342-1347

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11 February 2018

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

cites work

1 reference

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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

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

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

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

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https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

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/10.1038%2FSJ.KI.5001768

7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.

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7 January 2021

Genetic basis of Joubert syndrome and related disorders of cerebellar development

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7 January 2021

Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

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7 January 2021

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

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https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

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https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

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7 January 2021

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

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7 January 2021

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7 January 2021

Linking cilia to Wnts

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7 January 2021

Beyond Mendel: an evolving view of human genetic disease transmission

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7 January 2021

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.KI.5001768

7 January 2021

Identifiers

DOI

10.1038/SJ.KI.5001768

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11 February 2018

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11 February 2018