Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B

被引:13
作者
Apostolou, T [1 ]
Nikolopoulou, N
Theodoridis, M
Kournoustiotis, V
Pavlopoulou, E
Chondros, D
Billis, A
机构
[1] Evangelismos Gen Hosp, Dept Nephrol, Athens 10676, Greece
[2] Evangelismos Gen Hosp, Dept Computerised Tomog, Athens, Greece
关键词
cerebellar vermis hypoplasia; chronic interstitial nephritis; extra-renal manifestations; Joubert syndrome; juvenile nephronophthisis; medullary cystic disease; nystagmus;
D O I
10.1093/ndt/16.12.2412
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
[No abstract available]
引用
收藏
页码:2412 / 2415
页数:4
相关论文
共 11 条
[1]   A GENE FOR FAMILIAL JUVENILE NEPHRONOPHTHISIS (RECESSIVE MEDULLARY CYSTIC KIDNEY-DISEASE) MAPS TO CHROMOSOME-2P [J].
ANTIGNAC, C ;
ARDUY, CH ;
BECKMANN, JS ;
BENESSY, F ;
GROS, F ;
MEDHIOUB, M ;
HILDEBRANDT, F ;
DUFIER, JL ;
KLEINKNECHT, C ;
BROYER, M ;
WEISSENBACH, J ;
HABIB, R ;
COHEN, D .
NATURE GENETICS, 1993, 3 (04) :342-345
[2]  
Broyer M, 1998, INHERITED DISORDERS, P340
[3]   Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD) [J].
Christodoulou, K ;
Tsingis, M ;
Stavrou, C ;
Eleftheriou, A ;
Papapavlou, P ;
Patsalis, PC ;
Ioannou, P ;
Pierides, A ;
Deltas, CC .
HUMAN MOLECULAR GENETICS, 1998, 7 (05) :905-911
[4]   OCULAR CHANGES IN SOME PROGRESSIVE HEREDITARY NEPHROPATHIES [J].
DUFIER, JL ;
ORSSAUD, D ;
DHERMY, P ;
GUBLER, MC ;
GAGNADOUX, MF ;
KLEINKNECHT, C ;
BROYER, M .
PEDIATRIC NEPHROLOGY, 1987, 1 (03) :525-530
[5]  
HILDEBRANDT F, 1993, AM J HUM GENET, V53, P1256
[6]   Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure [J].
Hildebrandt, F ;
Strahm, B ;
Nothwang, HG ;
Gretz, N ;
Schnieders, B ;
SinghSawhney, I ;
Kutt, R ;
Vollmer, M ;
Brandis, M ;
Bode, U ;
Brodehl, J ;
Latta, K ;
Brouhard, B ;
Dippel, J ;
Feldhoff, C ;
Wingen, M ;
Filler, G ;
Ghiggeri, GM ;
GuayWoodford, L ;
Hoppe, B ;
Klare, B ;
Kuijten, RH ;
Kuhn, K ;
Leumann, E ;
Neumann, HPH ;
Vossmerbaumer, U ;
Neumayer, HH ;
Rascher, W ;
Scharer, K ;
Stolpe, HJ .
KIDNEY INTERNATIONAL, 1997, 51 (01) :261-269
[7]  
HILDEBRANDT F, 1996, DIS KIDNEY, P499
[8]   FAMILIAL AGENESIS OF CEREBELLAR VERMIS - A SYNDROME OF EPISODIC HYPERPNEA, ABNORMAL EYE MOVEMENTS, ATAXIA, AND RETARDATION [J].
JOUBERT, M ;
EINSENRI.JJ ;
ROBB, JP ;
ANDERMAN.F .
NEUROLOGY, 1969, 19 (09) :813-&
[9]   JOUBERT SYNDROME - A REVIEW [J].
SARAIVA, JM ;
BARAITSER, M .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (04) :726-731
[10]  
SCOLARI F, 1999, NEPHROL DIAL TRANSPL, V14