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Items: 1 to 20 of 36

1.
Undetectable S cone electroretinogram b-wave in complete congenital stationary night blindness.
M. Kamiyama, S. Yamamoto, K. Nitta, S. Hayasaka
Br J Ophthalmol. 1996 Jul; 80(7): 637–639. doi: 10.1136/bjo.80.7.637
PMCID:
PMC505559
SummaryPage BrowsePDF–473K
2.
Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
Christina Zeitz, Samuel G. Jacobson, Christian P. Hamel, Kinga Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie-Elise Lancelot, Christelle Michiels, Sharon B. Schwartz, Béatrice Bocquet, Congenital Stationary Night Blindness Consortium, Aline Antonio, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, Tien D. Luu, Florian Sennlaub, Hoan Nguyen, Olivier Poch, Hélène Dollfus, Odile Lecompte, Susanne Kohl, José-Alain Sahel, Shomi S. Bhattacharya, Isabelle Audo
Am J Hum Genet. 2013 Jan 10; 92(1): 67–75. doi: 10.1016/j.ajhg.2012.10.023
PMCID:
PMC3542465
AbstractArticlePDF–738K
3.
Molecular profiling of complete congenital stationary night blindness: A pilot study on an Indian cohort
Sivasankar Malaichamy, Parveen Sen, Ramya Sachidanandam, Tharigopala Arokiasamy, Marie Elise Lancelot, Isabelle Audo, Christina Zeitz, Nagasamy Soumittra
Mol Vis. 2014; 20: 341–351. Published online 2014 Mar 21.
Correction in:
Mol Vis. 2014; 20: 780.
PMCID:
PMC3962728
AbstractArticlePDF–1.3M
4.
Assessing Retinal Structure In Complete Congenital Stationary Night Blindness and Oguchi Disease
Pooja Godara, Robert F. Cooper, Panagiotis I. Sergouniotis, Melissa A. Diederichs, Megan R. Streb, Mohamed A. Genead, J. Jason McAnany, Andrew R. Webster, Anthony T. Moore, Adam M. Dubis, Maureen Neitz, Alfredo Dubra, Edwin M. Stone, Gerald A. Fishman, Dennis P. Han, Michel Michaelides, Joseph Carroll
Am J Ophthalmol. Author manuscript; available in PMC 2013 Dec 1.
Published in final edited form as: Am J Ophthalmol. 2012 Dec; 154(6): 987–1001.e1. Published online 2012 Sep 7. doi: 10.1016/j.ajo.2012.06.003
PMCID:
PMC3498541
AbstractArticlePDF–5.6M
5.
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand-Saïd, Birgit Lorenz, Christoph Friedburg, Markus Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova-Doumanova, Wolfgang Berger, Bernd Wissinger, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylene Le Meur, Ingele Casteels, Robert Koenekoop, Vernon W. Long, Francoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim Nguyen-Ba-Charvet, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Am J Hum Genet. 2012 Feb 10; 90(2): 321–330. doi: 10.1016/j.ajhg.2011.12.007
Correction in:
Am J Hum Genet. 2012 Jul 13; 91(1): 209.
PMCID:
PMC3276675
AbstractArticlePDF–828K
6.
GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness
Neal S. Peachey, Thomas A. Ray, Ralph Florijn, Lucy B. Rowe, Trijntje Sjoerdsma, Susana Contreras-Alcantara, Kenkichi Baba, Gianluca Tosini, Nikita Pozdeyev, P. Michael Iuvone, Pasano Bojang, Jr., Jillian N. Pearring, Huibert Jan Simonsz, Maria van Genderen, David G. Birch, Elias I. Traboulsi, Allison Dorfman, Irma Lopez, Huanan Ren, Andrew F.X. Goldberg, Patsy M. Nishina, Pierre Lachapelle, Maureen A. McCall, Robert K. Koenekoop, Arthur A.B. Bergen, Maarten Kamermans, Ronald G. Gregg
Am J Hum Genet. 2012 Feb 10; 90(2): 331–339. doi: 10.1016/j.ajhg.2011.12.006
PMCID:
PMC3276656
AbstractArticlePDF–978K
7.
Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness
Lin Zhou, Tuo Li, Yi-Qiao Xing, Yin Li, Qing-Song Wu, Mao-Ju Zhang
Int J Ophthalmol. 2016; 9(10): 1396–1402. Published online 2016 Oct 18. doi: 10.18240/ijo.2016.10.05
PMCID:
PMC5075652
AbstractArticlePDF–923K
8.
Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans
Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides, Donna S. Mackay, Genevieve A. Wright, Sophie Devery, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Andrew R. Webster
Am J Hum Genet. 2009 Nov 13; 85(5): 711–719. doi: 10.1016/j.ajhg.2009.10.003
PMCID:
PMC2775833
AbstractArticlePDF–1.3M
9.
Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness
Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
Case Rep Ophthalmol. 2017 Jan-Apr; 8(1): 237–244. Published online 2017 Apr 10. doi: 10.1159/000462961
PMCID:
PMC5422747
AbstractArticlePDF–1008K
10.
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand-Saïd, Kinga Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus Preising, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort-Dhellemmes, Bernd Wissinger, Thierry Léveillard, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Wolfgang Berger, Samuel G. Jacobson, Eberhart Zrenner, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz
Am J Hum Genet. 2009 Nov 13; 85(5): 720–729. doi: 10.1016/j.ajhg.2009.10.013
PMCID:
PMC2775830
AbstractArticlePDF–760K
11.
Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness
Haneen Al-Hujaili, Ibrahim Taskintuna, Christine Neuhaus, Carsten Bergmann, Patrik Schatz
Mol Vis. 2019; 25: 851–858. Published online 2019 Dec 19.
PMCID:
PMC6937218
AbstractArticlePDF–1.9M
12.
Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness
Maria M. van Genderen, Mieke M.C. Bijveld, Yvonne B. Claassen, Ralph J. Florijn, Jillian N. Pearring, Francoise M. Meire, Maureen A. McCall, Frans C.C. Riemslag, Ronald G. Gregg, Arthur A.B. Bergen, Maarten Kamermans
Am J Hum Genet. 2009 Nov 13; 85(5): 730–736. doi: 10.1016/j.ajhg.2009.10.012
PMCID:
PMC2775826
AbstractArticlePDF–1.0M
13.
Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia
Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, José Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz
Int J Mol Sci. 2023 Jan; 24(1): 219. Published online 2022 Dec 22. doi: 10.3390/ijms24010219
PMCID:
PMC9820543
AbstractArticlePDF–1.1M
14.
The negative ERG is not synonymous with nightblindness.
G W Cibis, K M Fitzgerald
Trans Am Ophthalmol Soc. 2001; 99: 171–176.
PMCID:
PMC1359007
SummaryPDF–103K
15.
Gβ3 Is Required for Normal Light ON Responses and Synaptic Maintenance
Anuradha Dhingra, Hariharasubramanian Ramakrishnan, Adam Neinstein, Marie E. Fina, Ying Xu, Jian Li, Daniel C. Chung, Arkady Lyubarsky, Noga Vardi
J Neurosci. 2012 Aug 15; 32(33): 11343–11355. doi: 10.1523/JNEUROSCI.1436-12.2012
PMCID:
PMC3478105
AbstractArticlePDF–3.5M
16.
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
A A Bergen, P Kestelyn, M Leys, F Meire
J Med Genet. 1994 Jul; 31(7): 580–582. doi: 10.1136/jmg.31.7.580
PMCID:
PMC1049985
SummaryPage BrowsePDF–418K
17.
Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation
J. Jason McAnany, Kenneth R. Alexander, Nalin M. Kumar, Hongyu Ying, Anastasios Anastasakis, Gerald A. Fishman
Ophthalmic Genet. Author manuscript; available in PMC 2013 Nov 27.
Published in final edited form as: Ophthalmic Genet. 2013 Sep; 34(3): 10.3109/13816810.2012.743570. Published online 2013 Jan 4. doi: 10.3109/13816810.2012.743570
PMCID:
PMC3842226
AbstractArticlePDF–480K
18.
Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes
Sulochana Devi, Yogananda Markandeya, Nityanand Maddodi, Anuradha Dhingra, Noga Vardi, Ravi C Balijepalli, Vijayasaradhi Setaluri
Pigment Cell Melanoma Res. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Pigment Cell Melanoma Res. 2013 May; 26(3): 348–356. Published online 2013 Mar 27. doi: 10.1111/pcmr.12083
PMCID:
PMC3682403
AbstractArticlePDF–1.3M
19.
Transient Receptor Potential Melastatin 1: A Hair Cell Transduction Channel Candidate
John Gerka-Stuyt, Adrian Au, Neal S. Peachey, Kumar N. Alagramam
PLoS One. 2013; 8(10): e77213. Published online 2013 Oct 11. doi: 10.1371/journal.pone.0077213
PMCID:
PMC3795643
AbstractArticlePDF–977K
20.
Loss of ON-Pathway Function in Mice Lacking Lrit3 Decreases Recovery From Lens-Induced Myopia
Baptiste Wilmet, Christelle Michiels, Jingyi Zhang, Jacques Callebert, José Alain Sahel, Serge Picaud, Isabelle Audo, Christina Zeitz
Invest Ophthalmol Vis Sci. 2024 Sep; 65(11): 18. Published online 2024 Sep 9. doi: 10.1167/iovs.65.11.18
PMCID:
PMC11385651
AbstractArticlePDF–577K

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