(Q35601959)

9 August 2017

Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders (English)

1 reference

Juvenile nephronophthisis

9 August 2017

1 reference

Donaldson MD

1

1 reference

9 August 2017

Warner AA

2

1 reference

9 August 2017

Trompeter RS

3

1 reference

9 August 2017

Haycock GB

4

1 reference

9 August 2017

Chantler C

5

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 May 1985

1 reference

Archives of Disease in Childhood

9 August 2017

1 reference

9 August 2017

60

1 reference

9 August 2017

426-434

1 reference

9 August 2017

5

1 reference

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Hereditary renal dysplasia and blindness

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Asphyxiating thoracic dystrophy with familial characteristics

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Congenital hepatic fibrosis and nephronophthisis. A family study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

The renal lesion in syndromes of multiple congenital malformations. Cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Peripheral dysostosis associated with juvenile nephronophthisis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

The renal lesion of the Laurence-Moon-Biedl syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Leber's congenital amaurosis with associated nephronophthisis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Renal lesion in Jeune's syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

Mitochondrial cytopathy. A multisystem disorder with ragged red fibres on muscle biopsy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

The nephronophthisis complex. A clinicopathologic study in children

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1777327

The Thoracic Asphyxiant Dystrophy and Renal Disease

15 November 2018

1 reference

12 December 2020

Hereditary Renal-Retinal Dysplasia

1 reference

12 December 2020

Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)

1 reference

12 December 2020

The renal disease of thoracic asphyxiant dystrophy

1 reference

12 December 2020

A renal lesion in asphyxiating thoracic dysplasia

1 reference

12 December 2020

Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia

1 reference

12 December 2020

[Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney).]

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.60.5.426

1 reference

9 August 2017

1 reference

9 August 2017

1 reference