Leber's Congenital Amaurosis Associated with Familial Juvenile Nephronophthisis and Cone-Shaped Epiphyses of the Hands (the Saldino-Mainzer Syndrome)

Juvenile Familial Nephropathy with Tapetoretinal Degeneration

B. Senior, A. I. Friedmann, J.L. Braudo · American Journal of Ophthalmology · 1961 · 287 citations

Medicine, Nephrology, Pediatrics +8

Hereditary Renal Dysplasia and Blindness

Aagot Christie Löken, Odd E. Hanssen, S Halvorsen et al. · Acta Paediatrica · 1961 · 196 citations

Medicine, Nephrology, Pediatrics +12

Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

Frank Mainzer, Ronald M. Saldino, M. B. Ozonoff et al. · The American Journal of Medicine · 1970 · 162 citations

Medicine, Genetics, Neurology +15

CONGENITAL MEDULLARY CYSTS OF THE KIDNEYS WITH SEVERE REFRACTORY ANEMIA

Carl H. Smith · Archives of Pediatrics and Adolescent Medicine · 1945 · 119 citations

Medicine, Pathology, Pediatrics +16

Nephronophthisis and medullary cystic disease

Jean Guy Mongeau, Howard G. Worthen · The American Journal of Medicine · 1967 · 86 citations

Medicine, Nephrology, Pathology +6