1. Familial nephropathy with bone and chorioretinal involvement;Antoine;J. Urol. Nephrol.,1963
2. Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain;Dekaban;Amer. J. Ophthal.,1969
3. Die familiäre juvenile Nephronophthise (die idiopathische parenchymatose Schrumpfnie-re);Fanconi;Helv. paediat. Acta,1951
4. Medullary cystic disease vs nephronophthisis. A valid distinction;Giangiacomo;J. Amer. tried. Ass.,1975
5. Congenital Leber amaurosis, keratoconus and mental retardation in familial juvenile nephronophthisis;Godel;Pediat. Ophthal.,1978