Trial record 1 of 1 for: clinical and molecular investigations into ciliopathies
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Clinical and Molecular Investigations Into Ciliopathies
This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2015 by National Institutes of Health Clinical Center (CC)
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
First received: September 10, 2003
Last updated: November 17, 2015
Last verified: November 2015
No Study Results Posted on ClinicalTrials.gov for this Study
|Study Status:||This study is currently recruiting participants.|
|Estimated Study Completion Date:||No date given|
|Estimated Primary Completion Date:||No date given|
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program, Gahl WA, Gunay-Aygun M. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18.
Banks N, Bryant J, Fischer R, Huizing M, Gahl WA, Gunay-Aygun M. Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet. 2015 Mar;291(3):705-8. doi: 10.1007/s00404-014-3445-8. Epub 2014 Sep 12.
O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M. Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c.
Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. J Pediatr. 2009 Sep;155(3):386-92.e1. doi: 10.1016/j.jpeds.2009.03.045. Epub 2009 Jun 21.