Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.


The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation


My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1972 1
1980 1
1984 1
1985 1
1990 1
1992 1
1993 2
1996 1
1997 2
2000 2
2001 1
2002 1
2004 4
2005 4
2006 4
2007 1
2008 1
2009 3
2010 2
2011 2
2012 2
2013 3
2014 4
2015 4
2016 1
2017 3
2018 2
2019 4
2020 3
2022 2
2023 3

Text availability

Article attribute

Article type

Publication date

PubMed for id: 762112

62 results

Results by year

Filters applied: . Clear all
Page 1
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Failler M, Gee HY, Krug P, Joo K, Halbritter J, Belkacem L, Filhol E, Porath JD, Braun DA, Schueler M, Frigo A, Alibeu O, Masson C, Brochard K, Hurault de Ligny B, Novo R, Pietrement C, Kayserili H, Salomon R, Gubler MC, Otto EA, Antignac C, Kim J, Benmerah A, Hildebrandt F, Saunier S. Failler M, et al. Am J Hum Genet. 2014 Jun 5;94(6):905-14. doi: 10.1016/j.ajhg.2014.05.002. Epub 2014 May 29. Am J Hum Genet. 2014. PMID: 24882706 Free PMC article.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E; Genomics England Research Consortium; Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS. Devlin LA, et al. Clin Genet. 2023 Mar;103(3):330-334. doi: 10.1111/cge.14251. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36273371 Free PMC article.
Embryonic and foetal expression patterns of the ciliopathy gene CEP164.
Devlin LA, Ramsbottom SA, Overman LM, Lisgo SN, Clowry G, Molinari E, Powell L, Miles CG, Sayer JA. Devlin LA, et al. PLoS One. 2020 Jan 28;15(1):e0221914. doi: 10.1371/journal.pone.0221914. eCollection 2020. PLoS One. 2020. PMID: 31990917 Free PMC article.
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Rao J, Liu X, Mao J, Tang X, Shen Q, Li G, Sun L, Bi Y, Wang X, Qian Y, Wu B, Wang H, Zhou W, Ma D, Zheng B, Shen Y, Chen Z, Luan J, Wang X, Wang M, Dang X, Wang Y, Wu Y, Hou L, Sun S, Li Q, Liu X, Bai H, Yang Y, Shao X, Li Y, Zheng S, Han M, Liu C, Cao G, Zhao L, Qiu S, Dong Y, Zhu Y, Wang F, Zhang D, Li Y, Zhao L, Yang C, Luo X, Chen L, Jiang X, Zhang A, Xu H; for “Internet Plus” Nephrology Alliance of National Center for Children's Care. Rao J, et al. Clin Genet. 2019 Nov;96(5):402-410. doi: 10.1111/cge.13606. Epub 2019 Jul 25. Clin Genet. 2019. PMID: 31328266
62 results