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Outcome of kidney transplantation in type I oral-facial-digital syndrome

  1. Gurrieri Fiorella, Franco Brunella, Toriello Helga, Neri Giovanni, Oral–facial–digital syndromes: Review and diagnostic guidelines, 10.1002/ajmg.a.32032
  2. Thauvin-Robinet C, Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study, 10.1136/jmg.2004.027672
  3. Doege Theodore C., Thuline Horace C., Priest Jean H., Norby Darwin E., Bryant Jean S., Studies of a Family with the Oral-Facial-Digital Syndrome, 10.1056/nejm196411192712101
  4. Prattichizzo Clelia, Macca Marina, Novelli Valeria, Giorgio Giovanna, Barra Adriano, Franco Brunella, , Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients, 10.1002/humu.20792
  5. Toriello, Gene Reviews (2002)
  6. Feather S., The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3, 10.1093/hmg/6.7.1163
  7. Scolari F., Valzorio B., Carli O., Vizzardi V., Costantino E., Grazioli L., Bondioni M., SAvoldi S., Maiorca R., Oral-facial-digital syndrome type I: an unusual cause of hereditary cystic kidney disease, 10.1093/ndt/12.6.1247
  8. Saal S, Faivre L, Aral Bernard, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J-P, Jouk P-S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon J-B, Huet F, Thauvin-Robinet C, Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I, 10.1111/j.1399-0004.2009.01290.x
  9. Coll E., Torra R., Pascual J., Botey A., Ara J., Perez L., Ballesta F., Darnell A., Sporadic orofaciodigital syndrome type I presenting as end-stage renal disease, 10.1093/ndt/12.5.1040
  10. Pirson, Oxford Textbook of Clinical Nephrology, 2304 (2005)
  11. Kasiske, Am J Transplant, 1, 3 (2001)
  12. Benedetti E, Asolati M, Dunn T, Walczak DA, Papp P, Bartholomew AM, Smith Y, Washington AW, Pollak R, Kidney transplantation in recipients with mental retardation: Clinical results in a single-center experience, 10.1053/ajkd.1998.v31.pm9506689
  13. Galante N. Z., Dib G. A., Medina-Pestana J. O., Severe intellectual disability does not preclude renal transplantation, 10.1093/ndt/gfq105
  14. Hildebrandt Friedhelm, Otto Edgar, Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?, 10.1038/nrg1727
  15. Toprak O., Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease, 10.1093/ndt/gfk013
Bibliographic reference Halleux, Delphine ; Dahan, Karin ; Thauvin-Robinet, Christel ; Aral, Bernard ; Pouteil-Noble, Claire ; et. al. Outcome of kidney transplantation in type I oral-facial-digital syndrome. In: Transplant International, Vol. 24, no. 6, p. e48-50 (2011)
Permanent URL http://hdl.handle.net/2078.1/113381