NIH Research Papers
Resulting from our Natural History Study: “Clinical Investigations into Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis.”
- Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. Journal of Pediatrics 2006 Aug;149(2):159-64.
- MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. Journal of Pediatrics 2009 Sep;155(3):386-92.e1.
- Liver and kidney disease in ciliopathies. American Journal of Medical Genetics C Seminars in Medical Genetics 2009 Nov 15;151C(4):296-306.
- “PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis”. Molecular Genetics and Metabolism 2010 Feb;99(2):160-73.
- “Correlation of Kidney Function, Volume and Imaging Findings and PKHD1 Mutations in 73 patients with with Autosomal Recessive Polycystic Kidney Disease” is accepted for publication in the journal “Clinical Journal of the American Society of Nephrology”.
- Maya Tuchman, William A. Gahl MD, PhD, Meral Gunay-Aygun, MD. Genetics of fibrocystic diseases of the liver and molecular approaches to therapy. In “Fibrocystic Diseases of the Liver”. Editor Karen F. Murray Humana Press. 2009
- Gunay-Aygun M, Gahl, W.A. Heller, T. Congenital hepatic fibrosis overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online) Copyright, University of Washington, Seattle.
- Autosomal recessive polycystic kidney disease and congenital hepaticfibrosis (ARPKD/CHF). Pediatric Radiology 2009 Feb;39 (2):100-11.
ARPKD liver paper attached.