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Items: 1 to 20 of 81

1.
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
Allan J Richards, Gregory S Fincham, Annie McNinch, David Hill, Arabella V Poulson, Bruce Castle, Melissa M Lees, Anthony T Moore, John D Scott, Martin P Snead
J Med Genet. 2013 Nov; 50(11): 765–771. Published online 2013 Aug 6. doi: 10.1136/jmedgenet-2012-101499
PMCID:
PMC3812854
AbstractArticlePDF–5.7M
2.
Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
Kristien P Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A Beemer, Jules G Leroy, Laila Bendix, Erik Björck, Maryse Bonduelle, Odile Boute, Valerie Cormier-Daire, Christine De Die-Smulders, Anne Dieux-Coeslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica I Guerci, Raoul C M Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel Hoyng, Kristi J Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, Kalle O J Simola, Sarah F Smithson, Karen I Temple, Elisabeth Van Aken, Yolande Van Bever, Jenneke van den Ende, Johanna M Van Hagen, Leopoldo Zelante, Riina Zordania, Anne De Paepe, Bart P Leroy, Marc De Buyzere, Paul J Coucke, Geert R Mortier
Eur J Hum Genet. 2010 Aug; 18(8): 872–880. Published online 2010 Feb 24. doi: 10.1038/ejhg.2010.23
Correction in:
Eur J Hum Genet. 2010 Aug; 18(8): 881.
PMCID:
PMC2987380
AbstractArticlePDF–548K
3.
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist
M P Snead, A M McNinch, A V Poulson, P Bearcroft, B Silverman, P Gomersall, V Parfect, A J Richards
Eye (Lond) 2011 Nov; 25(11): 1389–1400. Published online 2011 Sep 16. doi: 10.1038/eye.2011.201
PMCID:
PMC3213659
AbstractArticlePDF–619K
4.
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations
Allan J Richards, Annie McNinch, Joanne Whittaker, Becky Treacy, Kim Oakhill, Arabella Poulson, Martin P Snead
Eur J Hum Genet. 2012 May; 20(5): 552–558. Published online 2011 Dec 21. doi: 10.1038/ejhg.2011.223
PMCID:
PMC3330208
AbstractArticlePDF–650K
5.
Adaptive Immunity Restricts Replication of Novel Murine Astroviruses
Christine C. Yokoyama, Joy Loh, Guoyan Zhao, Thaddeus S. Stappenbeck, David Wang, Henry V. Huang, Herbert W. Virgin, Larissa B. Thackray
J Virol. 2012 Nov; 86(22): 12262–12270. doi: 10.1128/JVI.02018-12
PMCID:
PMC3486451
AbstractArticlePDF–1.1M
6.
Mutational Hot Spot Potential of a Novel Base Pair Mutation of the CSPG2 Gene in a Family With Wagner Syndrome
Shawn M. Ronan, Khanh-Nhat Tran-Viet, Erica L. Burner, Ravikanth Metlapally, Cynthia A. Toth, Terri L. Young
Arch Ophthalmol. Author manuscript; available in PMC 2012 Dec 5.
Published in final edited form as: Arch Ophthalmol. 2009 Nov; 127(11): 1511–1519. doi: 10.1001/archophthalmol.2009.273
PMCID:
PMC3514888
AbstractArticlePDF–3.2M
7.
Hearing impairment in Stickler syndrome: a systematic review
Frederic R E Acke, Ingeborg J M Dhooge, Fransiska Malfait, Els M R De Leenheer
Orphanet J Rare Dis. 2012; 7: 84. Published online 2012 Oct 30. doi: 10.1186/1750-1172-7-84
PMCID:
PMC3551705
AbstractArticlePDF–959K
8.
Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes
Khanh-Nhat Tran-Viet, Vincent Soler, Valencia Quiette, Caldwell Powell, Tammy Yanovitch, Ravikanth Metlapally, Xiaoyan Luo, Nicholas Katsanis, Erica Nading, Terri L. Young
Mol Vis. 2013; 19: 759–766. Published online 2013 Apr 5.
PMCID:
PMC3626300
AbstractArticlePDF–671K
9.
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)
Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead, Allan Richards
BMC Med Genet. 2013; 14: 48. Published online 2013 Apr 26. doi: 10.1186/1471-2350-14-48
PMCID:
PMC3652776
AbstractArticlePDF–2.1M
10.
Mosaicism in Stickler syndrome
David A. Stevenson, Rena Vanzo, Kristy Damjanovich, Heather Hanson, Harlan Muntz, Robert O. Hoffman, Pinar Bayrak-Toydemir
Eur J Med Genet. Author manuscript; available in PMC 2013 Jun 6.
Published in final edited form as: Eur J Med Genet. 2012 Jun; 55(0): 418–422. Published online 2012 Mar 30. doi: 10.1016/j.ejmg.2012.03.006
PMCID:
PMC3674818
AbstractArticlePDF–1.5M
11.
Radiographic and Tomographic Analysis in Patients with Stickler Syndrome Type I
Ali Al Kaissi, Farid Ben Chehida, Rudolf Ganger, Vladimir Kenis, Shahin Zandieh, Jochen G Hofstaetter, Klaus Klaushofer, Franz Grill
Int J Med Sci. 2013; 10(9): 1250–1258. Published online 2013 Aug 3. doi: 10.7150/ijms.4997
PMCID:
PMC3739025
AbstractArticlePDF–1.5M
12.
COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia
Orly Goldstein, Richard Guyon, Anna Kukekova, Sue Pearce-Kelling, Jennifer Johnson, Gustavo D. Aguirre, Gregory M. Acland
Mamm Genome. Author manuscript; available in PMC 2011 Aug 5.
Published in final edited form as: Mamm Genome. 2010 Aug; 21(7-8): 398–408. Published online 2010 Aug 5. doi: 10.1007/s00335-010-9276-4
PMCID:
PMC2954766
AbstractArticlePDF–1.0M
13.
Alternative splicing and retinal degeneration
Melissa M. Liu, Donald J. Zack
Clin Genet. Author manuscript; available in PMC 2014 Aug 28.
Published in final edited form as: Clin Genet. 2013 Aug; 84(2): 142–149. Published online 2013 Jun 5. doi: 10.1111/cge.12181
PMCID:
PMC4147722
AbstractArticlePDF–162K
14.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53
Imen Chakchouk, M’hamed Grati, Guney Bademci, Mariem Bensaid, Qi Ma, Amine Chakroun, Joseph Foster, II, Denise Yan, Duygu Duman, Oscar Diaz-Horta, Abdelmonem Ghorbel, Rahul Mittal, Amjad Farooq, Mustafa Tekin, Saber Masmoudi, Xue Zhong Liu
Mol Genet Genomics. Author manuscript; available in PMC 2016 Jan 11.
Published in final edited form as: Mol Genet Genomics. 2015 Aug; 290(4): 1327–1334. Published online 2015 Jan 30. doi: 10.1007/s00438-015-0995-9
PMCID:
PMC4707654
AbstractArticlePDF–1.1M
15.
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
Je Moon Yoon, Mi-Ae Jang, Chang-Seok Ki, Sang Jin Kim
Ann Lab Med. 2016 Mar; 36(2): 166–169. Published online 2015 Dec 18. doi: 10.3343/alm.2016.36.2.166
PMCID:
PMC4713851
AbstractArticlePDF–670K
16.
Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia
Jiali Li, Bei Gao, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Xiangming Guo, Qingjiong Zhang
Mol Vis. 2016; 22: 161–167. Published online 2016 Feb 20.
PMCID:
PMC4764606
AbstractArticlePDF–3.0M
17.
Ophthalmic and molecular genetic findings in Kniest dysplasia
P I Sergouniotis, G S Fincham, A M McNinch, C Spickett, A V Poulson, A J Richards, M P Snead
Eye (Lond) 2015 Apr; 29(4): 475–482. Published online 2015 Jan 16. doi: 10.1038/eye.2014.334
PMCID:
PMC4816360
AbstractArticlePDF–541K
18.
Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome
Xun Wang, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Jie Li, Yadi Li, Yantao Wei, Xiaoling Liang, Xiangming Guo
Mol Vis. 2016; 22: 697–704. Published online 2016 Jun 23.
PMCID:
PMC4919091
AbstractArticlePDF–1.8M
19.
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Mouna Barat-Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean-Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Eric Bieth, Marie Brechard, Tiffany Busa, Patrick Calvas, Yline Capri, François Cartault, Nicolas Chassaing, Vidrica Ciorca, Christine Coubes, Albert David, Anne-Lise Delezoide, Delphine Dupin-Deguine, Salima El Chehadeh, Laurence Faivre, Fabienne Giuliano, Alice Goldenberg, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Josseline Kaplan, Didier Lacombe, Marine Lebrun, Sandrine Marlin, Dominique Martin-Coignard, Jelena Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quélin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier-Daire, Martine Le Merrer, David Geneviève, Isabelle Touitou
Eur J Hum Genet. 2016 Jul; 24(7): 992–1000. Published online 2015 Dec 2. doi: 10.1038/ejhg.2015.250
PMCID:
PMC5070901
AbstractArticlePDF–1.0M
20.
Endoplasmic Reticulum Stress and Unfolded Protein Response in Cartilage Pathophysiology; Contributing Factors to Apoptosis and Osteoarthritis
Alexandria Hughes, Alexandra E. Oxford, Ken Tawara, Cheryl L. Jorcyk, Julia Thom Oxford
Int J Mol Sci. 2017 Mar; 18(3): 665. Published online 2017 Mar 20. doi: 10.3390/ijms18030665
PMCID:
PMC5372677
AbstractArticlePDF–879K

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