Authors:
DENDUNNEN JT
KRAAYENBRINK T
VANSCHOONEVELD M
VANDEVOSSE E
DEJONG PTVM
TENBRINK JB
SCHUURMAN E
TIJMES N
VANOMMEN GJB
BERGEN AAB
ANDOLFI G
MONTINI E
LI Y
OUDET C
BOLZ H
KAPLAN J
ORTH U
GAL A
HANAUER A
BARDELLI AM
AYUSO C
DIAZ FJ
BITOUN P
VENTRUTO V
BALLABIO A
FRANCO B
HIRIYANNA KT
BINGHAM EL
MCHENRY C
PAWAR H
COATS C
DARGA T
RICHARDS JE
SIEVING PA
HUOPANIEMI L
RANTALA A
ROSENBERG T
DAHL N
WRIGHT A
DELACHAPELLE A
ALITALO T
LENZNER S
BRUNNER B
FEIL S
NIESLER B
SCHULZ U
PINCKERS A
BLANKENNAGEL A
RUETHER K
KELLNER U
RAPPOLD G
ROPERS HH
KALSCHEUER V
BERGER W
TRUMP D
WALPOLE SM
NICOLAOU A
GAYTHOR SA
PIMENIDES D
GEORGE NDL
MOORE UT
YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
Authors:
BATTISTI C
DOTTI MT
MALANDRINI A
PEZZELLA F
BARDELLI AM
FEDERICO A
Citation: C. Battisti et al., SCHNYDER-CORNEAL-CRYSTALLINE-DYSTROPHY - DESCRIPTION OF A NEW FAMILY WITH EVIDENCE OF ABNORMAL LIPID STORAGE IN SKIN FIBROBLASTS, American journal of medical genetics, 75(1), 1998, pp. 35-39
Authors:
DOTTI MT
SIGNORINI E
CAPUTO N
BARDELLI AM
CIACCI G
FEDERICO A
GUAZZI GC
Citation: Mt. Dotti et al., MRI FINDINGS IN MARINESCO-SJOGREN SYNDROME - REPORT OF 3 CASES WITH UNUSUAL FEATURES, Neuro-ophthalmology, 14(2), 1994, pp. 131-133
Authors:
DOTTI MT
BARDELLI AM
DESTEFANO N
FEDERICO A
MALANDRINI A
VANNI M
GUAZZI GC
Citation: Mt. Dotti et al., OPTIC ATROPHY IN MARINESCO-SJOGREN SYNDROME - AN ADDITIONAL OCULAR FEATURE - REPORT OF 3 CASES IN 2 FAMILIES, Ophthalmic paediatrics and genetics, 14(1), 1993, pp. 5-7