Autosomal Recessive Polycystic Kidney Disease
Last Posted: Jan 11, 2019
- [PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].
Hamo Suzy, et al. Nephrologie & therapeutique 2018 11 (6) 474-477
- Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.
Gimpel Charlotte et al. Radiology 2019 Mar 290(3) 769-782
- Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó Tamás et al. Pediatric nephrology (Berlin, Germany) 2018 Jun
- Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.
Alzarka Bakri et al. Frontiers in pediatrics 2017 580
- Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Melchionda Salvatore, et al. Journal of human genetics 2016 5
- Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova Lena, et al. BMC medical genetics 2015 0 (1) 116
- Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
- Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Krall Paola, et al. Pediatric nephrology (Berlin, Germany) 2014 2 (2) 223-34
- Germline PKHD1 mutations are protective against colorectal cancer.
Ward Christopher J, et al. Human genetics 2011 3 (3) 345-9
- Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.
Gunay-Aygun Meral, et al. Clinical journal of the American Society of Nephrology : CJASN 2010 6 (6) 972-84
- Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Denamur Erick, et al. Kidney international 2010 2 (4) 350-8
- Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C, et al. Journal of medical genetics 2005 10 (10) e63
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