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

Year Number of Results
1993 70
1998 3
1999 4
2000 7
2001 8
2002 5
2003 6
2004 3
2005 5
2006 2
2007 2
2008 6
2009 3
2010 2
2011 2
2012 2
2013 5
2014 5
2015 3
2016 3
2017 3
2018 7
2019 1
2020 3
2021 8
2022 12
2023 22
2024 24
2025 17

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Similar articles for PMID: 27336129

101 results

Results by year

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Page 1
Nephronophthisis-Related Ciliopathies.
Stokman M, Lilien M, Knoers N. Stokman M, et al. 2016 Jun 23 [updated 2023 Mar 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2016 Jun 23 [updated 2023 Mar 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 27336129 Free Books & Documents. Review.
Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Gunay-Aygun M, Gahl WA, Heller T. Gunay-Aygun M, et al. 2008 Dec 9 [updated 2014 Apr 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Dec 9 [updated 2014 Apr 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301743 Free Books & Documents. Review.
Joubert Syndrome.
Parisi M, Glass I. Parisi M, et al. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301500 Free Books & Documents. Review.
Cranioectodermal Dysplasia.
Tan W, Lin A, Keppler-Noreuil K. Tan W, et al. 2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2013 Sep 12 [updated 2022 Dec 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24027799 Free Books & Documents. Review.
Bardet-Biedl Syndrome Overview.
Forsyth R, Gunay-Aygun M. Forsyth R, et al. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301537 Free Books & Documents. Review.
Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Weleber RG, Francis PJ, Trzupek KM, Beattie C. Weleber RG, et al. 2004 Jul 7 [updated 2013 May 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2004 Jul 7 [updated 2013 May 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301475 Free Books & Documents. Review.
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; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
Nephronophthisis and related syndromes.
Wolf MT. Wolf MT. Curr Opin Pediatr. 2015 Apr;27(2):201-11. doi: 10.1097/MOP.0000000000000194. Curr Opin Pediatr. 2015. PMID: 25635582 Free PMC article. Review.
Nonsyndromic Retinitis Pigmentosa Overview.
Fahim AT, Daiger SP, Weleber RG. Fahim AT, et al. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301590 Free Books & Documents. Review.
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. Sakakibara N, et al. J Hum Genet. 2022 Jul;67(7):427-440. doi: 10.1038/s10038-022-01020-5. Epub 2022 Feb 9. J Hum Genet. 2022. PMID: 35140360
101 results