Funder
National Institute of Diabetes and Digestive and Kidney Diseases
Congressionally Directed Medical Research Programs
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology and Child Health
Reference120 articles.
1. Hildebrandt F, Otto E (2005) Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet 6:928–940
2. Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F (2016) Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int 89:468–475
3. Fanconi G, Hanhart E, von Albertini A, Uhlinger E, Dolivo G, Prader A (1951) Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney). Helv Paediatr Acta 6:1–49
4. Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F (2011) Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int 80:1239–1245
5. Otto EA, Helou J, Allen SJ, O’Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F (2008) Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. Hum Mutat 29:418–426
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