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1
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Kidney Int. 2011 Dec;80(11):1239-45. doi: 10.1038/ki.2011.284. Epub 2011 Aug 24.
2
Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.
Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1974-1983. doi: 10.2215/CJN.01280217. Epub 2017 Nov 16.
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Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Pediatr Nephrol. 2023 May;38(5):1609-1620. doi: 10.1007/s00467-022-05763-3. Epub 2022 Oct 13.
5
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15.
7
Identification of an NPHP1 deletion causing adult form of nephronophthisis.
Ir J Med Sci. 2016 Aug;185(3):589-595. doi: 10.1007/s11845-015-1312-7. Epub 2015 Jun 4.
9
[Clinical features and gene mutation analysis of 13 Chinese juvenile patients with nephronophthisis].
Zhonghua Er Ke Za Zhi. 2016 Nov 2;54(11):834-839. doi: 10.3760/cma.j.issn.0578-1310.2016.11.009.

引用本文的文献

1
Prostaglandin Analogs and Eupatilin as Treatments for Nephronophthisis.
Kidney Int Rep. 2025 May 2;10(8):2821-2835. doi: 10.1016/j.ekir.2025.04.060. eCollection 2025 Aug.
3
Senior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.
Biomolecules. 2025 May 5;15(5):667. doi: 10.3390/biom15050667.
4
NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex.
Cell Commun Signal. 2025 Apr 7;23(1):170. doi: 10.1186/s12964-025-02143-w.
7
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Clin Genet. 2025 Jul;108(1):14-21. doi: 10.1111/cge.14708. Epub 2025 Jan 24.
9
Case report of a child with nephronophthisis from South Africa.
BMC Pediatr. 2024 Jul 5;24(1):431. doi: 10.1186/s12887-024-04872-2.
10
Phenotype Spectrum in Tunisian Population with NPHP1 Deletion.
Indian J Nephrol. 2023 Nov-Dec;33(6):426-431. doi: 10.4103/ijn.ijn_248_22. Epub 2023 May 3.

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2
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.
3
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.
4
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Kidney Int. 2009 Apr;75(8):839-47. doi: 10.1038/ki.2008.662. Epub 2009 Jan 28.
5
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23.
6
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23.
8
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
J Am Soc Nephrol. 2008 Mar;19(3):587-92. doi: 10.1681/ASN.2007040490. Epub 2008 Jan 16.
10
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. doi: 10.1016/j.ejmg.2007.10.001. Epub 2007 Oct 6.

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