| 1 |
Juvenile nephronophthisis and dysthyroidism: a rare association. ( 28509138
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2017 |
| 2 |
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287
)
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Chan S.C....MacDonald I.M.
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2016 |
| 3 |
Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience. ( 21486612
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2011 |
| 4 |
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis. ( 21265929
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2011 |
| 5 |
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. ( 20798123
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2010 |
| 6 |
End-stage juvenile nephronophthisis on MRI. ( 20182708
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2010 |
| 7 |
Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome? ( 20490483
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Simms RJ...Sayer JA
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2010 |
| 8 |
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis. ( 15723349
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2005 |
| 9 |
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. ( 15138899
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2004 |
| 10 |
Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I. ( 12699867
)
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2003 |
| 11 |
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. ( 12244321
)
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Mollet G....Saunier S.
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2002 |
| 12 |
Expression of nuclear transcription factor PAX2 in renal biopsies of juvenile nephronophthisis. ( 12138259
)
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Murer L....Zacchello G.
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2002 |
| 13 |
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. ( 11168925
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Hildebrandt F....Otto E.
|
2001 |
| 14 |
Juvenile nephronophthisis and related variants: clinical features and molecular approach. ( 11688404
)
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Caridi G....Ghiggeri G.M.
|
2001 |
| 15 |
Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis. ( 11382680
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|
2001 |
| 16 |
Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening. ( 10620543
)
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Caridi G....Ghiggeri G.M.
|
2000 |
| 17 |
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints. ( 10980528
)
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Otto E....Hildebrandt F.
|
2000 |
| 18 |
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ( 10839884
)
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Betz R....Hildebrandt F.
|
2000 |
| 19 |
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. ( 10712196
)
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|
2000 |
| 20 |
Familial juvenile nephronophthisis. ( 9587065
)
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Konrad M....Antignac C.
|
1998 |
| 21 |
Sonographic findings in familial juvenile nephronophthisis-medullary cystic disease complex. ( 9572384
)
|
Chuang Y.F....Tsai T.C.
|
1998 |
| 22 |
Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism. ( 9598719
)
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Ala-Mello S....KAoAoriAoinen H.
|
1998 |
| 23 |
Familial juvenile nephronophthisis. An ultrasonographic follow-up of seven patients. ( 9498877
)
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|
1998 |
| 24 |
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. ( 9361039
)
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Saunier S....Antignac C.
|
1997 |
| 25 |
Juvenile nephronophthisis-medullary cystic disease complex: a family study. ( 9151464
)
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Tsai J.D....Tsai T.C.
|
1997 |
| 26 |
Sonographic appearance of the juvenile nephronophthisis-cystic renal medulla complex. ( 9075164
)
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Aguilera A....Ortuno J.
|
1997 |
| 27 |
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fA1r PAodiatrische Nephrologie. ( 8995741
)
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|
1997 |
| 28 |
Thin-section computed tomography scans detect medullary cysts in patients believed to have juvenile nephronophthisis. ( 8659496
)
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Elzouki A.Y....al-Sowailem A.M.
|
1996 |
| 29 |
Ultrasound findings in juvenile nephronophthisis. ( 8611349
)
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Blowey D.L....Alon U.
|
1996 |
| 30 |
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. ( 8852662
)
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|
1996 |
| 31 |
Mechanism underlying early anaemia in children with familial juvenile nephronophthisis. ( 8897559
)
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|
1996 |
| 32 |
Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13. ( 8697815
)
|
Hildebrandt F...Brandis M
|
1996 |
| 33 |
Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group. ( 7789968
)
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1995 |
| 34 |
Toward the identification of a gene for familial juvenile nephronophthisis (autosomal recessive medullary cystic kidney disease). ( 7572421
)
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1995 |
| 35 |
A 11 Mb YAC-based contig spanning the familial juvenile nephronophthisis region (NPH1) located on chromosome 2q. ( 8825638
)
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|
1995 |
| 36 |
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. ( 7806215
)
|
Medhioub M....Antignac C.
|
1994 |
| 37 |
Clinical quiz. Familial juvenile nephronophthisis. ( 7947053
)
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Elzouki A....Mirza K.
|
1994 |
| 38 |
Radiological cases of the month. Juvenile nephronophthisis. ( 8213686
)
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Blowey D.L....Wood B.P.
|
1993 |
| 39 |
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. ( 7981755
)
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|
1993 |
| 40 |
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group. ( 8250041
)
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|
1993 |
| 41 |
Familial juvenile nephronophthisis and renal transplantation in two siblings. ( 1479732
)
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Yoshida A....Takagi H.
|
1992 |
| 42 |
Severe tubular resistance to aldosterone in a child with familial juvenile nephronophthisis. ( 1536742
)
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|
1992 |
| 43 |
Familial juvenile nephronophthisis in two siblings--histological findings at an early stage. ( 1792907
)
|
Matsubara K....Ohta S.
|
1991 |
| 44 |
Juvenile nephronophthisis diagnosed from glucosuria detected by urine screening at school. ( 2284933
)
|
Tsukahara H....Sudo M.
|
1990 |
| 45 |
Rate of deterioration of renal function in juvenile nephronophthisis. ( 2702089
)
|
Gretz N....Strauch M.
|
1989 |
| 46 |
Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis. ( 2929712
)
|
Ticho B....Sieving P.A.
|
1989 |
| 47 |
Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis. ( 2745140
)
|
Bianchi C....Bellini F.
|
1989 |
| 48 |
Juvenile nephronophthisis with calcification of basal ganglia and pancreatic insufficiency. ( 3377663
)
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|
1988 |
| 49 |
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality. ( 3231430
)
|
Alsing A...Christensen C
|
1988 |
| 50 |
Familial juvenile nephronophthisis. A review and differential diagnosis. ( 3510794
)
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|
1986 |
