Similar articles for PMID: 16505158

Year	Number of Results
1994	1
1997	1
1998	3
2000	1
2001	3
2002	6
2003	6
2004	1
2005	7
2006	6
2007	3
2008	2
2009	4
2010	3
2011	3
2012	3
2013	4
2014	5
2015	5
2016	3
2017	1
2018	2
2019	2
2020	5
2021	2
2022	5
2024	0

1

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.

Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT. Jalkanen R, et al. J Med Genet. 2006 Aug;43(8):699-704. doi: 10.1136/jmg.2006.040741. Epub 2006 Feb 27. J Med Genet. 2006. PMID: 16505158 Free PMC article.

2

A novel CACNA1F gene mutation causes Aland Island eye disease.

Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T. Jalkanen R, et al. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103. Invest Ophthalmol Vis Sci. 2007. PMID: 17525176

3

The Ca(v)1.4 calcium channel: more than meets the eye.

Doering CJ, Peloquin JB, McRory JE. Doering CJ, et al. Channels (Austin). 2007 Jan-Feb;1(1):3-10. Epub 2007 Jan 1. Channels (Austin). 2007. PMID: 19151588 Review.

4

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.

Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB. Hauke J, et al. PLoS One. 2013 Oct 4;8(10):e76414. doi: 10.1371/journal.pone.0076414. eCollection 2013. PLoS One. 2013. PMID: 24124559 Free PMC article.

5

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. Bijveld MM, et al. Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25. Ophthalmology. 2013. PMID: 23714322

6

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.

Du M, Li Y, Zheng P, Zhong L, Zhao W, Zhang Y, Gu H, Li X, Liu Z. Du M, et al. Mol Genet Genomic Med. 2022 Nov;10(11):e2060. doi: 10.1002/mgg3.2060. Epub 2022 Sep 27. Mol Genet Genomic Med. 2022. PMID: 36165086 Free PMC article.

7

Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.

Hope CI, Sharp DM, Hemara-Wahanui A, Sissingh JI, Lundon P, Mitchell EA, Maw MA, Clover GM. Hope CI, et al. Clin Exp Ophthalmol. 2005 Apr;33(2):129-36. doi: 10.1111/j.1442-9071.2005.00987.x. Clin Exp Ophthalmol. 2005. PMID: 15807819

8

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Bech-Hansen NT, et al. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947. Nat Genet. 1998. PMID: 9662400

9

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA. Michalakis S, et al. Hum Mol Genet. 2014 Mar 15;23(6):1538-50. doi: 10.1093/hmg/ddt541. Epub 2013 Oct 26. Hum Mol Genet. 2014. PMID: 24163243 Free PMC article.

10

Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.

Nakamura M, Ito S, Terasaki H, Miyake Y. Nakamura M, et al. Invest Ophthalmol Vis Sci. 2001 Jun;42(7):1610-6. Invest Ophthalmol Vis Sci. 2001. PMID: 11381068

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