160 related articles for article (PubMed ID: 35140360)
1. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N; Nozu K; Yamamura T; Horinouchi T; Nagano C; Ye MJ; Ishiko S; Aoto Y; Rossanti R; Hamada R; Okamoto N; Shima Y; Nakanishi K; Matsuo M; Iijima K; Morisada N
J Hum Genet; 2022 Jul; 67(7):427-440. PubMed ID: 35140360
[TBL] [Abstract][Full Text] [Related]
2. Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Yamamura T; Morisada N; Nozu K; Minamikawa S; Ishimori S; Toyoshima D; Ninchoji T; Yasui M; Taniguchi-Ikeda M; Morioka I; Nakanishi K; Nishio H; Iijima K
Clin Exp Nephrol; 2017 Feb; 21(1):136-142. PubMed ID: 26968886
[TBL] [Abstract][Full Text] [Related]
3. Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Kang HG; Lee HK; Ahn YH; Joung JG; Nam J; Kim NK; Ko JM; Cho MH; Shin JI; Kim J; Park HW; Park YS; Ha IS; Chung WY; Lee DY; Kim SY; Park WY; Cheong HI
Exp Mol Med; 2016 Aug; 48(8):e251. PubMed ID: 27491411
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
König J; Kranz B; König S; Schlingmann KP; Titieni A; Tönshoff B; Habbig S; Pape L; Häffner K; Hansen M; Büscher A; Bald M; Billing H; Schild R; Walden U; Hampel T; Staude H; Riedl M; Gretz N; Lablans M; Bergmann C; Hildebrandt F; Omran H; Konrad M;
Clin J Am Soc Nephrol; 2017 Dec; 12(12):1974-1983. PubMed ID: 29146700
[TBL] [Abstract][Full Text] [Related]
5. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA; Ramaswami G; Janssen S; Chaki M; Allen SJ; Zhou W; Airik R; Hurd TW; Ghosh AK; Wolf MT; Hoppe B; Neuhaus TJ; Bockenhauer D; Milford DV; Soliman NA; Antignac C; Saunier S; Johnson CA; Hildebrandt F;
J Med Genet; 2011 Feb; 48(2):105-16. PubMed ID: 21068128
[TBL] [Abstract][Full Text] [Related]
6. Mutations in TTC21B cause different phenotypes in two childhood cases in China.
Zhang H; Su B; Liu X; Xiao H; Ding J; Yao Y
Nephrology (Carlton); 2018 Apr; 23(4):371-376. PubMed ID: 28124483
[TBL] [Abstract][Full Text] [Related]
7. Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X; Liu C; Liu X; Chen J; Fan X; Liu J; Ma D; Cao G; Chen Z; Xu D; Zhu Y; Jiang X; Cheng L; Wu Y; Hou L; Li Y; Shao X; Zheng S; Zhang A; Zheng B; Jian S; Rong Z; Su Q; Gao X; Rao J; Shen Q; Xu H; ;
J Med Genet; 2022 Feb; 59(2):147-154. PubMed ID: 33323469
[TBL] [Abstract][Full Text] [Related]
8. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J; Porath JD; Diaz KA; Braun DA; Kohl S; Chaki M; Allen SJ; Soliman NA; Hildebrandt F; Otto EA;
Hum Genet; 2013 Aug; 132(8):865-84. PubMed ID: 23559409
[TBL] [Abstract][Full Text] [Related]
9. Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation.
Kawaguchi T; Yoshida T; Hirahashi J; Uehara T; Takenouchi T; Kosaki K; Itoh H; Hayashi M
Nephron; 2018; 140(1):74-78. PubMed ID: 29991045
[TBL] [Abstract][Full Text] [Related]
10. Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation.
Watanabe Y; Fujinaga S; Sakuraya K; Morisada N; Nozu K; Iijima K
Tohoku J Exp Med; 2019 Sep; 249(1):29-32. PubMed ID: 31534065
[TBL] [Abstract][Full Text] [Related]
11. Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J; Su X; Zhang H; Wu W; Li J; Chen Y; Li J; Fu Q; Wu C; Zhong X; Wang C; Liu L
Pediatr Nephrol; 2023 May; 38(5):1609-1620. PubMed ID: 36227438
[TBL] [Abstract][Full Text] [Related]
12. Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova L; Seeman T; Fencl F; Blahova K; Hojny J; Elisakova V; Reiterova J; Stekrova J
PLoS One; 2020; 15(6):e0235071. PubMed ID: 32574212
[TBL] [Abstract][Full Text] [Related]
13. Clinical and pathological features and varied mutational spectra of pathogenic genes in 55 Chinese patients with nephronophthisis.
Yue Z; Lin H; Li M; Wang H; Liu T; Hu M; Chen H; Tong H; Sun L
Clin Chim Acta; 2020 Jul; 506():136-144. PubMed ID: 32173348
[TBL] [Abstract][Full Text] [Related]
14. [Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].
Zhao X; Jiang LJ; Rong ZH; Dou ZY; Su QX; Liang YH; Qi XJ
Zhongguo Dang Dai Er Ke Za Zhi; 2023 Aug; 25(8):831-836. PubMed ID: 37668031
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Chaki M; Hoefele J; Allen SJ; Ramaswami G; Janssen S; Bergmann C; Heckenlively JR; Otto EA; Hildebrandt F
Kidney Int; 2011 Dec; 80(11):1239-45. PubMed ID: 21866095
[TBL] [Abstract][Full Text] [Related]
16. Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.
Soliman NA; Hildebrandt F; Otto EA; Nabhan MM; Allen SJ; Badr AM; Sheba M; Fadda S; Gawdat G; El-Kiky H
Saudi J Kidney Dis Transpl; 2012 Sep; 23(5):1090-8. PubMed ID: 22982934
[TBL] [Abstract][Full Text] [Related]
17. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Olbrich H; Fliegauf M; Hoefele J; Kispert A; Otto E; Volz A; Wolf MT; Sasmaz G; Trauer U; Reinhardt R; Sudbrak R; Antignac C; Gretz N; Walz G; Schermer B; Benzing T; Hildebrandt F; Omran H
Nat Genet; 2003 Aug; 34(4):455-9. PubMed ID: 12872122
[TBL] [Abstract][Full Text] [Related]
18. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.
Schueler M; Halbritter J; Phelps IG; Braun DA; Otto EA; Porath JD; Gee HY; Shendure J; O'Roak BJ; Lawson JA; Nabhan MM; Soliman NA; Doherty D; Hildebrandt F
J Med Genet; 2016 Mar; 53(3):208-14. PubMed ID: 26673778
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]