PMC Links for Books (Select 1484378) - PMC

Select item 67304601.

The CACNA1F Gene Encodes an L-Type Calcium Channel with Unique Biophysical Properties and Tissue Distribution

John E. McRory, Jawed Hamid, Clinton J. Doering, Esperanza Garcia, Robin Parker, Kevin Hamming, Lina Chen, Michael Hildebrand, Aaron M. Beedle, Laura Feldcamp, Gerald W. Zamponi, Terrance P. Snutch

J Neurosci. 2004 Feb 18; 24(7): 1707–1718. doi: 10.1523/JNEUROSCI.4846-03.2004

PMCID:: PMC6730460

Article PDF–905K

Select item 67251952.

Congenital Stationary Night Blindness Type 2 Mutations S229P, G369D, L1068P, and W1440X Alter Channel Gating or Functional Expression of Ca_v1.4 L-type Ca²⁺ Channels

Jean-Charles Hoda, Francesca Zaghetto, Alexandra Koschak, Jörg Striessnig

J Neurosci. 2005 Jan 5; 25(1): 252–259. doi: 10.1523/JNEUROSCI.3054-04.2005

PMCID:: PMC6725195

Article PDF–327K

Select item 52230923.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren J. Carss, Gavin Arno, Marie Erwood, Jonathan Stephens, Alba Sanchis-Juan, Sarah Hull, Karyn Megy, Detelina Grozeva, Eleanor Dewhurst, Samantha Malka, Vincent Plagnol, Christopher Penkett, Kathleen Stirrups, Roberta Rizzo, Genevieve Wright, Dragana Josifova, Maria Bitner-Glindzicz, Richard H. Scott, Emma Clement, Louise Allen, Ruth Armstrong, Angela F. Brady, Jenny Carmichael, Manali Chitre, Robert H.H. Henderson, Jane Hurst, Robert E. MacLaren, Elaine Murphy, Joan Paterson, Elisabeth Rosser, Dorothy A. Thompson, Emma Wakeling, Willem H. Ouwehand, Michel Michaelides, Anthony T. Moore, NIHR-BioResource Rare Diseases Consortium, Andrew R. Webster, F. Lucy Raymond

Am J Hum Genet. 2017 Jan 5; 100(1): 75–90. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.12.003

PMCID:: PMC5223092

Article PDF–1.6M

Select item 37906794.

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B. Beck

PLoS One. 2013; 8(10): e76414. Published online 2013 Oct 4. doi: 10.1371/journal.pone.0076414

PMCID:: PMC3790679

Article PDF–1.2M

Select item 26429165.

Mutations in NYX of individuals with high myopia, but without night blindness

Qingjiong Zhang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Zhikuan Yang, Shizhou Huang, Rafael C. Caruso, Tianqin Guan, Yuri Sergeev, Xiangming Guo, J. Fielding Hejtmancik

Mol Vis. 2007; 13: 330–336. Published online 2007 Mar 1.

PMCID:: PMC2642916

Article PDF–359K

Select item 25645956.

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

R Jalkanen, M Mäntyjärvi, R Tobias, J Isosomppi, E‐M Sankila, T Alitalo, N T Bech‐Hansen

J Med Genet. 2006 Aug; 43(8): 699–704. Published online 2006 Feb 27. doi: 10.1136/jmg.2006.040741

PMCID:: PMC2564595

Article PDF–357K

Select item 17718907.

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

L E Allen, I Zito, K Bradshaw, R J Patel, A C Bird, F Fitzke, J R Yates, D Trump, A J Hardcastle, A T Moore

Br J Ophthalmol. 2003 Nov; 87(11): 1413–1420. doi: 10.1136/bjo.87.11.1413

PMCID:: PMC1771890

Article PDF–2.8M

Select item 13770218.

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

K M Boycott, W G Pearce, M A Musarella, R G Weleber, T A Maybaum, D G Birch, Y Miyake, R S Young, N T Bech-Hansen

Am J Hum Genet. 1998 Apr; 62(4): 865–875. doi: 10.1086/301781

PMCID:: PMC1377021

Summary PDF–323K

Select item 11404369.

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Ca_v1.4 channel activation

Ariana Hemara-Wahanui, Stanislav Berjukow, Carolyn I. Hope, Peter K. Dearden, Shu-Biao Wu, Jane Wilson-Wheeler, Dianne M. Sharp, Patricia Lundon-Treweek, Gillian M. Clover, Jean-Charles Hoda, Jörg Striessnig, Rainer Marksteiner, Steffen Hering, Marion A. Maw

Proc Natl Acad Sci U S A. 2005 May 24; 102(21): 7553–7558. Published online 2005 May 16. doi: 10.1073/pnas.0501907102

PMCID:: PMC1140436

Article PDF–530K

Select item 50448610.

Clinical features of affected males with X linked ocular albinism.

S J Charles, J S Green, J W Grant, J R Yates, A T Moore

Br J Ophthalmol. 1993 Apr; 77(4): 222–227. doi: 10.1136/bjo.77.4.222

PMCID:: PMC504486

Summary Page Browse PDF–1.4M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 10

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity