(Q34390610)

1 August 2017

title

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity (English)

1 reference

1 August 2017

main subject

familial juvenile gout

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author name string

B Stibůrková

1

1 reference

1 August 2017

J Majewski

2

1 reference

1 August 2017

I Sebesta

3

1 reference

1 August 2017

W Zhang

4

1 reference

1 August 2017

J Ott

5

1 reference

1 August 2017

S Kmoch

6

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1 August 2017

language of work or name

English

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publication date

25 April 2000

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

66

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1 August 2017

issue

6

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1 August 2017

page(s)

1989-1994

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Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378048

Identification of a new locus for medullary cystic disease, on chromosome 16p12.

6 July 2018

1 reference

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

6 July 2018

1 reference

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Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein

6 July 2018

1 reference

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High affinity thyroid hormone-binding protein in human kidney: kinetic characterization and identification by photoaffinity labeling

6 July 2018

1 reference

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Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378048

Gout, uric acid and purine metabolism in paediatric nephrology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378048

Hereditary nephropathy associated with hyperuricemia and gout.

6 July 2018

1 reference

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Faster sequential genetic linkage computations

6 July 2018

1 reference

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Human SA gene locus as a candidate locus for essential hypertension

6 July 2018

1 reference

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Unusual Manifestations of Hypothyroidism

6 July 2018

1 reference

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Infantile familial hyperuricemia with gouty manifestations

6 July 2018

1 reference

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Recessive X-Linked Hyperuricemia with Gout and Renal Damage, Normal Activity of Hypoxanthine Phosphoribosyltransferase and Resistance to Azaguanine

6 July 2018

1 reference

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Pathophysiology of Tamm-Horsfall protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378048

Tamm-Horsfall protein. Abnormal localization in renal disease

6 July 2018

1 reference

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Actions of Hormones on the Kidney

6 July 2018

1 reference

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Gout, familial hypericaemia, and renal disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378048

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

27 October 2018

1 reference

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[Familial juvenile gouty nephropathy]

27 October 2018

1 reference

12 December 2020

Familial renal disease or familial juvenile hyperuricaemic nephropathy?

1 reference

12 December 2020

Reversible renal insufficiency, hyperuricemia and gouty arthritis in a case of hypothyroidism

1 reference

12 December 2020

Apoptosis of tubular epithelial cells in familial juvenile gouty nephropathy

1 reference

12 December 2020

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

1 reference

12 December 2020

Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity

1 reference

12 December 2020

Does allopurinol affect the progression of familial juvenile gouty nephropathy?

1 reference

12 December 2020

Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11

1 reference

12 December 2020

Familial hyperuricemic nephropathy

1 reference

12 December 2020

Hyperuricemia in patients with hyperthyroidism due to Graves' disease

1 reference

12 December 2020

The influence of allopurinol on renal deterioration in familial nepropathy associated with hyperuricemia (FNAH). The Spanish Group for the Study of FNAH

1 reference

12 December 2020

Ultrasound imaging and colour Doppler studies in familial nephropathy associated with hyperuricemia (FNAH). The Spanish Group for the Study of FNAH

1 reference

12 December 2020

Familial Juvenile Hyperuricaemic Nephropathy in Adolescents

1 reference

12 December 2020

Clinics in diagnostic imaging (2). Juvenile gouty arthropathy with associated nephropathy

1 reference

12 December 2020

Newly discovered familial juvenile gouty nephropathy in a Japanese family

1 reference

12 December 2020

Immunocytochemical localization of Tamm-Horsfall protein in the kidneys of normal and nephrolithic rats

1 reference

12 December 2020

Identifiers

DOI

10.1086/302936

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1 August 2017

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1 August 2017

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