(Q48031852)

7 February 2018

title

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1. (English)

1 reference

7 February 2018

main subject

cystic kidney disease

1 reference

Stavrou C

1

1 reference

7 February 2018

Pierides A

2

1 reference

7 February 2018

Zouvani I

3

1 reference

7 February 2018

Kyriacou K

4

1 reference

7 February 2018

Antignac C

5

1 reference

7 February 2018

Neophytou P

6

1 reference

7 February 2018

Christodoulou K

7

1 reference

7 February 2018

Deltas CC

8

1 reference

7 February 2018

publication date

1 May 1998

1 reference

7 February 2018

American Journal of Medical Genetics Part A

published in

1 reference

7 February 2018

volume

77

1 reference

7 February 2018

issue

2

1 reference

7 February 2018

page(s)

149-154

1 reference

7 February 2018

Gout, uric acid and purine metabolism in paediatric nephrology

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

The nephronophthisis complex: clinical and genetic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

An unusual form of renal disease associated with gout and hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Uric Acid in Advanced Renal Failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Nephronophthisis with massive proteinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Evolution of Clinical Signs in Adult-Onset Cystic Disease of the Renal Medulla

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Hereditary Occurrence of Cystic Disease of the Renal Medulla

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Hereditary interstitial nephritis without basement membrane changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Nephronophthisis-cystic renal medulla complex: diagnosis by computerized tomography

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Nephronophthisis and medullary cystic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Late occurrence of cysts in autosomal dominant medullary cystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Clinical and pathological aspects of cystic disease of the renal medulla. An analysis of eighteen cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

Medullary Cystic Disease and Familial Juvenile Nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980501%2977%3A2%3C149%3A%3AAID-AJMG8%3E3.0.CO%3B2-N

10.1002/(SICI)1096-8628(19980501)77:2<149::AID-AJMG8>3.0.CO;2-N

21 January 2018

Identifiers

DOI

1 reference

7 February 2018

release_wwropd5zxjhmfp3c6sbyopbzam

Fatcat ID

0 references

1 reference

7 February 2018