Harris PC, Torres VE (2009) Polycystic kidney disease. Annu Rev Med 60:321–337

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guay-Woodford LM (2006) Renal cystic diseases: diverse phenotypes converge on the cilium/centrosome complex. Pediatr Nephrol 21:1369–1376

Article  PubMed  Google Scholar 

Saunier S, Salomon R, Antignac C (2005) Nephronophthisis. Curr Opin Genet Dev 15:324–331

Article  CAS  PubMed  Google Scholar 

Luo F, Tao YH (2018) Nephronophthisis: a review of genotype-phenotype correlation. Nephrology (Carlton) 23:904–911

Article  PubMed  Google Scholar 

Rastogi A, Ameen KM, Al-Baghdadi M, Shaffer K, Nobakht N, Kamgar M, Lerma EV (2019) Autosomal dominant polycystic kidney disease: updated perspectives. Ther Clin Risk Manag 15:1041–1052

Article  CAS  PubMed  PubMed Central  Google Scholar 

Badano JL, Mitsuma N, Beales PL, Katsanis N (2006) The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 7:125–148

Article  CAS  PubMed  Google Scholar 

Hildebrandt F, Benzing T, Katsanis N (2011) Ciliopathies. N Engl J Med 364:1533–1543

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee JE, Gleeson JG (2011) A systems-biology approach to understanding the ciliopathy disorders. Genome Med 3:59

Article  PubMed  PubMed Central  Google Scholar 

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O’Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 37:282–288

Article  CAS  PubMed  Google Scholar 

Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM (2014) Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis 9:72

Article  PubMed  PubMed Central  Google Scholar 

Forsythe E, Beales PL (2013) Bardet-Biedl syndrome. Eur J Hum Genet 21:8–13

Article  CAS  PubMed  Google Scholar 

Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA (2017) Meckel-Gruber syndrome: an update on diagnosis, clinical management, and research advances. Front Pediatr 5:244–244

Article  PubMed  PubMed Central  Google Scholar 

Baujat G, Huber C, El Hokayem J, Caumes R, Do Ngoc Thanh C, David A, Delezoide AL, Dieux-Coeslier A, Estournet B, Francannet C, Kayirangwa H, Lacaille F, Le Bourgeois M, Martinovic J, Salomon R, Sigaudy S, Malan V, Munnich A, Le Merrer M, Le Quan Sang KH, Cormier-Daire V (2013) Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families. J Med Genet 50:91–98

Article  CAS  PubMed  Google Scholar 

Arts H, Knoers N (2018) Cranioectodermal dysplasia. GeneReviews. University of Washington, Seattle

Google Scholar 

Toriello HV, Franco B, Bruel AL, Thauvin-Robinet C (1993) Oral-facial-digital syndrome type I. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews. University of Washington, Seattle

Google Scholar 

Sevillano AM, Gutierrez E, Morales E, Hernandez E, Molina M, Gonzalez E, Praga M (2014) Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment. Clin Kidney J 7:251–256

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, Besse W, Choi J, Somlo S (2020) Collagen IV gene mutations in adults with bilateral renal cysts and CKD. Kidney Int Rep 5:103–108

Article  PubMed  Google Scholar 

Dunnill MS, Millard PR, Oliver D (1977) Acquired cystic disease of the kidneys: a hazard of long-term intermittent maintenance haemodialysis. J Clin Pathol 30:868–877

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boerrigter MM, Bongers E, Lugtenberg D, Nevens F, Drenth JPH (2021) Polycystic liver disease genes: practical considerations for genetic testing. Eur J Med Genet 64:104160

Article  CAS  PubMed  Google Scholar 

Izzedine H, Bodaghi B, Launay-Vacher V, Deray G (2003) Eye and kidney: from clinical findings to genetic explanations. J Am Soc Nephrol 14:516–529

Article  PubMed  Google Scholar 

Bodaghi B, Massamba N, Izzedine H (2014) The eye: a window on kidney diseases. Clin Kidney J 7:337–338

Article  CAS  PubMed  PubMed Central  Google Scholar 

Yildiz O, Khanna H (2012) Ciliary signaling cascades in photoreceptors. Vision Res 75:112–116

Article  CAS  PubMed  PubMed Central  Google Scholar 

Savige J, Liu J, DeBuc DC, Handa JT, Hageman GS, Wang YY, Parkin JD, Vote B, Fassett R, Sarks S, Colville D (2010) Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. Invest Ophthalmol Vis Sci 51:1621–1627

Article  PubMed  PubMed Central  Google Scholar 

Kim B, King BF Jr, Vrtiska TJ, Irazabal MV, Torres VE, Harris PC (2016) Inherited renal cystic diseases. Abdom Radiol (NY) 41:1035–1051

Article  CAS  PubMed  Google Scholar 

Feldhaus B, Weisschuh N, Nasser F, den Hollander AI, Cremers FPM, Zrenner E, Kohl S, Zobor D (2020) CEP290 Mutation spectrum and delineation of the associated phenotype in a large German cohort: a monocentric study. Am J Ophthalmol 211:142–150

Article  CAS  PubMed  Google Scholar 

Moloney TP, Patel C, Gole GA (2014) Exudative vasculopathy in a child with Leber congenital amaurosis. J AAPOS 18:297–299

Article  PubMed  Google Scholar 

Wolf MTF (2015) Nephronophthisis and related syndromes. Curr Opin Pediatr 27:201–211

Article  CAS  PubMed  PubMed Central  Google Scholar 

Srivastava S, Sayer JA (2014) Nephronophthisis. J Pediatr Genet 3:103–114

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hildebrandt F, Zhou W (2007) Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 18:1855–1871

Article  CAS  PubMed  Google Scholar 

Konig J, Kranz B, Konig S, Schlingmann KP, Titieni A, Tonshoff B, Habbig S, Pape L, Haffner K, Hansen M, Buscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M, Gesellschaft fur Padiatrische Nephrologie (GPN) (2017) Phenotypic spectrum of children with nephronophthisis and related ciliopathies. Clin J Am Soc Nephrol 12:1974–1983

Article  CAS  PubMed  PubMed Central  Google Scholar 

Parisi M, Glass I (1993) Joubert syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews. University of Washington, Seattle

Google Scholar 

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Ramadevi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52:514–522

Article  CAS  PubMed  Google Scholar 

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Program NCS, Malicdan MCV, Gahl WA, Gunay-Aygun M (2017) Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med 19:875–882

Article  PubMed  Google Scholar 

Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M (2018) Joubert syndrome: ophthalmological findings in correlation with genotype and hepatorenal disease in 99 patients prospectively evaluated at a single center. Ophthalmology 125:1937–1952

Article  PubMed  Google Scholar 

Suspitsin EN, Imyanitov EN (2016) Bardet-Biedl Syndrome. Mol Syndromol 7:62–71

Article  CAS  PubMed  PubMed Central  Google Scholar 

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36:437–446

Article  CAS  PubMed  PubMed Central