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Autosomal Recessive Polycystic Kidney Disease
Known as:
Polycystic Kidney Disease, Autosomal Recessive
, POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
, Polycystic Kidney Disease, Infantile, Type I
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A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious…
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National Institutes of Health
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Related topics
Related topics
24 relations
Autosomal recessive inheritance
Dehydration
Esophageal Varices
Hepatic cysts
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Broader (1)
Cystic kidney
Narrower (2)
Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia
Polycystic kidneys, severe infantile with tuberous sclerosis
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2006
Review
2006
Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)
W. Sweeney
,
E. Avner
Cell and Tissue Research
2006
Corpus ID: 33829528
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes…
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Highly Cited
2005
Highly Cited
2005
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)
M. Moser
,
S. Matthiesen
,
+6 authors
R. Buettner
Hepatology
2005
Corpus ID: 20993643
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of liver‐ and renal‐related morbidity and mortality…
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Highly Cited
2003
Highly Cited
2003
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.
H. Waterham
,
J. Koster
,
+6 authors
J. Oosterwijk
American Journal of Human Genetics
2003
Corpus ID: 5680802
Hydrops-ectopic calcification-"moth-eaten" (HEM) or Greenberg skeletal dysplasia is an autosomal recessive chondrodystrophy with…
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Highly Cited
2002
Highly Cited
2002
A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.
H. Xiong
,
Yongxiong Chen
,
+10 authors
Guan-qing Wu
Genomics
2002
Corpus ID: 24203115
Autosomal recessive polycystic kidney disease (ARPKD) is a common hereditary renal cystic disease in infants and children. By…
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2001
2001
Role of CFTR in autosomal recessive polycystic kidney disease.
K. Nakanishi
,
W. Sweeney
,
K. MacRae Dell
,
C. Cotton
,
E. Avner
Journal of the American Society of Nephrology
2001
Corpus ID: 22346766
An extensive body of in vitro data implicates epithelial chloride secretion, mediated through cystic fibrosis transmembrane…
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Review
2001
Review
2001
Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?
Ira D. Davis
,
K. Dell
,
W. Sweeney
,
E. Avner
Seminars in Nephrology
2001
Corpus ID: 4194409
Data from animal and human studies suggest that the rate of progression of renal insufficiency can be retarded with careful…
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Highly Cited
1999
Highly Cited
1999
Genetic analysis of leaf form mutants from the Arabidopsis Information Service collection
J. Serrano-Cartagena
,
P. Robles
,
M. Ponce
,
J. Micol
Molecular and General Genetics MGG
1999
Corpus ID: 31558100
Abstract Although a vast inventory of morphological mutants of Arabidopsis thaliana is available, only some have been used for…
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Highly Cited
1985
Highly Cited
1985
Consistent deficiencies of chromosome 18 and of the short arm of chromosome 17 in eleven cases of human large bowel cancer: a possible recessive determinism.
M. Muleris
,
Salmon Rj
,
B. Zafrani
,
J. Girodet
,
B. Dutrillaux
Annales de Genetique
1985
Corpus ID: 9735477
Cytogenetic study of 11 cases of colorectal carcinoma was performed after R-banding. In all instances, there was a rearrangement…
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Highly Cited
1979
Highly Cited
1979
Genetic control of severe pre-eclampsia.
D. Cooper
,
W. Liston
Journal of Medical Genetics
1979
Corpus ID: 17387297
A genetic analysis has been made of published and new data on the familial occurrence of severe pre-eclampsia in primigravid…
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Highly Cited
1955
Highly Cited
1955
PHENOTYPES AND GENOTYPES IN CYSTINURIA
Harry Harris
,
U. Mittwoch
,
Elizabeth B. Robson
,
F. L. Warren
Annals of Human Genetics
1955
Corpus ID: 9680168
Quantitative data are presented on the cystine, lysine and arginine excretion in patients with cystine stone formation and in…
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