Renal Dysplasia in Bardet-Biedl Syndrome/ Бубрежна Дисплазија Кај Бардет Бидл Синдром

1. Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, et al. Renal outcome in patients with congenital anomalies of the kidney and urinary tract. Kidney Int. 2009; 76: 528-33.10.1038/ki.2009.22019536081Search in Google Scholar

2. Guo D. F, Rahmouni K. Molecular basis of the obesity associated with Bardet-Biedl syndrome.Trends Endocrinol Metab. 2011; 22: 286-93.Search in Google Scholar

3. Andrade L. J, Andrade R, França C. S, Bittencourt A. V. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. Obes Rev. 2002; 3: 123-35.10.1046/j.1467-789X.2002.00055.xSearch in Google Scholar

4. Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. A review of the literature of Bardet- Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. Ann Endocrinol (Paris). 2008; 69: 463-71.Search in Google Scholar

5. Rooryck C, Lacombe D. Bardet-Biedl syndrome. Minerva Endocrinol. 1998; 23: 83-92.Search in Google Scholar

6. Iannello S, Fagone S, Grasso G, Ierna D, Meli S, Pennisi P, et al. A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin- resistant diabetes mellitus]. Pediatr Res. 2004; 55: 908-11.Search in Google Scholar

7. M'hamdi O, Ouertani I, Chaabouni-Bouhamed H. Update on the genetics of bardet-biedl syndrome. Mol Syndromol. 2014; 5: 51-6.10.1159/000357054397722324715851Search in Google Scholar

8. Sheffield V. C. Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. Trends Mol Med. 2004; 10: 106-9.10.1203/01.pdr.0000127013.14444.9c15155861Search in Google Scholar

9. Beales P, Elcioglu N, Woolf A, Parker D, Flinter F. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999; 36: 437-446.10.1136/jmg.36.6.437Search in Google Scholar

10. Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, et al. Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol. 2011; 6: 22-9.10.2215/CJN.03320410302224520876674Search in Google Scholar

11. Billingsley G, Vincent A, Deveault C, Héon E. Mutational analysis of SDCCAG8 in Bardet-Biedl syn drome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012; 33: 150-4.10.3109/13816810.2012.68941122626039Search in Google Scholar

12. Mihai C, Marshall J, Stoicescu R. Bardet-Biedel syndrome with end -stage kidney disease in a four-yearold Romanian boy: a case report. J Med Case Reports. 2011; 5: 378.10.1186/1752-1947-5-378317412821843323Search in Google Scholar

13. Hooda A. K, Karan S. C, Bishnoi J. S, Nandwani A, Sinha T. Renal transplant in a child with Bardet- Biedl syndrome: A rare cause of end-stage renal disease. Indian J Nephrol. 2009; 19: 112-4.10.4103/0971-4065.57108285947620436731Search in Google Scholar

14. Valavi E, Ansari M. J, Ahmadzadeh A. Bardet-biedl syndrome in a child with chronic kidney disease. Saudi J Kidney Dis Transpl. 2009; 20: 454-7.Search in Google Scholar

15. Momtaz H. E, Amanati A. Continuous ambulatory peritoneal dialysis for a patient with Bardet-Biedl syndrome. Iran J Kidney Dis. 2008; 2: 237-9.Search in Google Scholar

16. Cherian M. P, Al-Sanna'a N. A, Ayyat F. M. Hydrometrocolpos and acute renal failure: a rare neonatal presentation of Bardet-Biedl syndrome. J Pediatr Urol. 2008; 4: 313-6.10.1016/j.jpurol.2007.10.00918644538Search in Google Scholar

17. Dervisoglu E, Isgoren S, Kasgari D, Demir H, Yilmaz A. Obesity control and low protein diet preserve or even improve renal functions in Bardet-Biedl syndrome: a report of two cases. Med Sci Monit. 2011; 17: CS12-14. 10.12659/MSM.881320Search in Google Scholar