1 |
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion.
61
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Arai Y...Hayashi Y
|
32361464 |
2020 |
2 |
Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.
61
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Abdelwahed M...Belguith N
|
31402777 |
2019 |
3 |
Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1.
61
|
Chen H...Sun L
|
31523374 |
2019 |
4 |
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
61
|
Nuovo S...Emma F
|
30403813 |
2018 |
5 |
Renal Replacement Therapy in Children in Lithuania: Challenges, Trends, and Outcomes.
61
|
Virsilas E...Jankauskiene A
|
30400223 |
2018 |
6 |
[Identification of a new mutation of the NPHP1 gene].
61
|
La Russa A...Bonofiglio R
|
29786190 |
2018 |
7 |
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
61
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Konig J...Gesellschaft fur Padiatrische Nephrologie (GPN)
|
29146700 |
2017 |
8 |
Juvenile nephronophthisis and dysthyroidism: a rare association.
61
|
Amiri FS...Kariminejad A
|
28509138 |
2017 |
9 |
Successful resumption of peritoneal dialysis following living donor liver transplantation in children with end-stage renal disease.
61
|
Kanazawa H...Kasahara M
|
28213931 |
2017 |
10 |
Priority target conditions for algorithms for monitoring children's growth: Interdisciplinary consensus.
61
|
Scherdel P...Chalumeau M
|
28448550 |
2017 |
11 |
Senior Loken Syndrome.
61
|
Kaur A...Goyal RK
|
28050464 |
2016 |
12 |
[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis].
61
|
Sun LZ...Chen HM
|
27806791 |
2016 |
13 |
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
61
|
Kang HG...Cheong HI
|
27491411 |
2016 |
14 |
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects.
61
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Chan SC...MacDonald IM
|
27316287 |
2016 |
15 |
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
61
|
Qiu L...Zhou J
|
27004562 |
2016 |
16 |
Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility.
61
|
Devi AN...Kumar PG
|
26198798 |
2015 |
17 |
Senior- loken syndrome - a ciliopathy.
61
|
R H
|
25584255 |
2014 |
18 |
A family with five siblings affected with nephronophthisis.
61
|
Albaramki J...Wahbeh A
|
24821164 |
2014 |
19 |
Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
61
|
Tong H...Wang H
|
24674142 |
2013 |
20 |
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis.
61
|
Deacon BS...Schaefer GB
|
23683649 |
2013 |
21 |
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome.
61
|
Onoe T...Kawano M
|
23569556 |
2013 |
22 |
The Senior-Loken syndrome: Two cases from the State of Qatar.
61
|
Othman M...Bakr A
|
23205360 |
2012 |
23 |
Renal tubular dysgenesis and tubulointerstitial nephritis antigen in juvenile nephronophthisis.
61
|
Sugimoto K...Takemura T
|
21265929 |
2011 |
24 |
Follow-up of patients with juvenile nephronophthisis after renal transplantation: a single center experience.
61
|
Tayfur AC...Bakkaloglu A
|
21486612 |
2011 |
25 |
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
61
|
Bellavia S...Pirson Y
|
20798123 |
2010 |
26 |
End-stage juvenile nephronophthisis on MRI.
61
|
Stafrace S...Khan J
|
20182708 |
2010 |
27 |
Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?
61
|
Simms RJ...Sayer JA
|
20490483 |
2010 |
28 |
Senior-Loken syndrome in an Iranian family.
61
|
Roozbeh J...Sharifian M
|
20587883 |
2010 |
29 |
Clinical and molecular features of Joubert syndrome and related disorders.
61
|
Parisi MA
|
19876931 |
2009 |
30 |
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse.
61
|
Jiang ST...Li H
|
19208653 |
2009 |
31 |
Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice.
61
|
Jiang ST...Li H
|
18684731 |
2008 |
32 |
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
61
|
Hoyer J...Rauch A
|
17601928 |
2007 |
33 |
Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy.
61
|
Sato T...Ikeda T
|
25390787 |
2007 |
34 |
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
61
|
Baala L...Attie-Bitach T
|
17160906 |
2007 |
35 |
[Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families].
61
|
Sellami D...Feki J
|
17114995 |
2006 |
36 |
Twins with senior-Loken syndrome.
61
|
Giridhar S...Senguttuvan P
|
17127790 |
2006 |
37 |
Persistent post-transplant polyuria managed by bilateral native-kidney laparoscopic nephrectomy.
61
|
Kravarusic D...Grisaru S
|
16703380 |
2006 |
38 |
Renal cystic diseases: a review.
61
|
Bisceglia M...Sessa A
|
16462154 |
2006 |
39 |
Solution NMR structure of the SH3 domain of human nephrocystin and analysis of a mutation-causing juvenile nephronophthisis.
61
|
le Maire A...Dardel F
|
15723349 |
2005 |
40 |
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
61
|
Valente EM...Gleeson JG
|
15786477 |
2005 |
41 |
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
61
|
Mollet G...Saunier S
|
15661758 |
2005 |
42 |
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
61
|
Parisi MA...Glass IA
|
15138899 |
2004 |
43 |
[Two cases of Senior-Loken syndrome].
61
|
Oyama T...Abe H
|
14969091 |
2004 |
44 |
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1.
61
|
Stavrou C...Pierides A
|
13679497 |
2003 |
45 |
Approach to the evaluation of heritable diseases and update on familial focal segmental glomerulosclerosis.
61
|
Winn MP
|
12953036 |
2003 |
46 |
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.
61
|
Johnson CA...Sergi C
|
12746391 |
2003 |
47 |
Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.
61
|
Takano K...Saitoh S
|
12699867 |
2003 |
48 |
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families.
61
|
Stavrou C...Deltas CC
|
12234310 |
2002 |
49 |
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
61
|
Mollet G...Saunier S
|
12244321 |
2002 |
50 |
Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity.
61
|
Donaldson JC...Hanks SK
|
12006559 |
2002 |