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Select item 101381941.

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations

Adam Jacobson, Cagri G. Besirli, Brenda L. Bohnsack

Genes (Basel) 2023 Apr; 14(4): 847. Published online 2023 Mar 31. doi: 10.3390/genes14040847

PMCID:: PMC10138194

Abstract Article PDF–2.8M

Select item 89274222.

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype

Till Joscha Demal, Tasja Scholz, Helke Schüler, Jakob Olfe, Anja Fröhlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger

Sci Rep. 2022; 12: 4489. Published online 2022 Mar 16. doi: 10.1038/s41598-022-08476-7

PMCID:: PMC8927422

Abstract Article PDF–2.9M

Select item 88991603.

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I

Xiuzhen Liu, Hongliang Dong, Yuerong Gong, Lianqing Wang, Ruyi Zhang, Tihua Zheng, Yuxi Zheng, Shuang Shen, Chelsea Zheng, Mingming Tian, Naiguo Liu, Xiaolin Zhang, Qing Yin Zheng

J Cell Mol Med. 2022 Mar; 26(5): 1530–1539. Published online 2022 Jan 21. doi: 10.1111/jcmm.17187

PMCID:: PMC8899160

Abstract Article PDF–1.1M

Select item 87753364.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev

Genes (Basel) 2022 Jan; 13(1): 137. Published online 2022 Jan 13. doi: 10.3390/genes13010137

PMCID:: PMC8775336

Abstract Article PDF–1.9M

Select item 85801005.

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family

Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu

Mol Genet Genomic Med. 2021 Oct; 9(10): e1781. Published online 2021 Aug 18. doi: 10.1002/mgg3.1781

PMCID:: PMC8580100

Abstract Article PDF–358K

Select item 70570856.

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita

Wen‐bin Zheng, Lu‐jiao Li, Di‐chen Zhao, Ou Wang, Yan Jiang, Wei‐bo Xia, Xiao‐ping Xing, Mei Li

Mol Genet Genomic Med. 2020 Mar; 8(3): e1139. Published online 2020 Jan 23. doi: 10.1002/mgg3.1139

PMCID:: PMC7057085

Abstract Article PDF–1.0M

Select item 70191357.

Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia

Yang Xu, Li Li, Chun Wang, Hua Yue, Hao Zhang, Jiemei Gu, Weiwei Hu, Lianyong Liu, Zhenlin Zhang

Int J Biol Sci. 2020; 16(5): 859–868. Published online 2020 Jan 16. doi: 10.7150/ijbs.38811

PMCID:: PMC7019135

Abstract Article PDF–1.6M

Select item 69256658.

Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population

Shinya Okazaki, Akira Meguro, Ryuichi Ideta, Masaki Takeuchi, Junichi Yonemoto, Takeshi Teshigawara, Takahiro Yamane, Eiichi Okada, Hidenao Ideta, Nobuhisa Mizuki

Mol Vis. 2019; 25: 843–850. Published online 2019 Dec 5.

PMCID:: PMC6925665

Abstract Article PDF–932K

Select item 66800009.

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome

Stuart W. Tompson, Charles Johnson, Diana Abbott, Benjamin Bakall, Vincent Soler, Tammy L. Yanovitch, Kristina N. Whisenhunt, Thomas Klemm, Steve Rozen, Edwin M. Stone, Max Johnson, Terri L. Young

Ophthalmic Genet. Author manuscript; available in PMC 2019 Aug 4.

Published in final edited form as: Ophthalmic Genet. 2017 Jan-Feb; 38(1): 43–50. Published online 2017 Jan 17. doi: 10.1080/13816810.2016.1275018

PMCID:: PMC6680000

Abstract Article PDF–968K

Select item 642433410.

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

Vinod Dasa, James R.B. Eastwood, Michal Podgorski, Heewon Park, Christopher Blackstock, Tetyana Antoshchenko, Piotr Rogala, Tadeusz Bieganski, S. Michal Jazwinski, Malwina Czarny-Ratajczak

Am J Med Genet A. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Am J Med Genet A. 2019 Apr; 179(4): 534–541. Published online 2019 Feb 10. doi: 10.1002/ajmg.a.61049

PMCID:: PMC6424334

Abstract Article PDF–736K

Select item 610886311.

Targeted next-generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

Xinhua Huang, Ying Lin, Chuan Chen, Yi Zhu, Hongbin Gao, Tao Li, Bingqian Liu, Cancan Lyu, Ying Huang, Qingxiu Wu, Haichun Li, Chenjin Jin, Xiaoling Liang, Lin Lu

Int J Mol Med. 2018 Oct; 42(4): 1819–1826. Published online 2018 Jul 4. doi: 10.3892/ijmm.2018.3752

PMCID:: PMC6108863

Abstract Article PDF–961K

Select item 605967712.

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report

Fang Liu, Zhizheng Xiong, Qi Liu, Jinxi Hu, Wenhua Li, Na Zhang

Mol Med Rep. 2018 Jul; 18(1): 254–260. Published online 2018 May 7. doi: 10.3892/mmr.2018.8984

PMCID:: PMC6059677

Abstract Article PDF–984K

Select item 585576313.

Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival

Salin A. Chakkalakal, Juliane Heilig, Ulrich Baumann, Mats Paulsson, Frank Zaucke

Int J Mol Sci. 2018 Feb; 19(2): 541. Published online 2018 Feb 11. doi: 10.3390/ijms19020541

PMCID:: PMC5855763

Abstract Article PDF–2.4M

Select item 552531414.

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report

Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li, Qiwei Guo

BMC Pediatr. 2017; 17: 175. Published online 2017 Jul 24. doi: 10.1186/s12887-017-0930-9

PMCID:: PMC5525314

Abstract Article PDF–4.7M

Select item 531561015.

Corner Fracture Type Spondylometaphyseal Dysplasia: Overlap with Type II Collagenopathies

Keren Machol, Mahim Jain, Mohammed Almannai, Thibault Orand, James T. Lu, Alyssa Tran, Yuqing Chen, Alan Schlesinger, Richard Gibbs, Luisa Bonafe, Ana Belinda Campos Xavier, Sheila Unger, Andrea Superti-Furga, Brendan H. Lee, Philippe M. Campeau, Lindsay C. Burrage

Am J Med Genet A. Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Am J Med Genet A. 2017 Mar; 173(3): 733–739. Published online 2016 Nov 26. doi: 10.1002/ajmg.a.38059

PMCID:: PMC5315610

Abstract Article PDF–305K

Select item 521633616.

Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease

Jingcan Hao, Wenyu Wang, Yan Wen, Xiao Xiao, Awen He, Cuiyan Wu, Sen Wang, Xiong Guo, Feng Zhang

Sci Rep. 2017; 7: 40020. Published online 2017 Jan 6. doi: 10.1038/srep40020

PMCID:: PMC5216336

Abstract Article PDF–436K

Select item 507090117.

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

Abstract Article PDF–1.0M

Select item 493576218.

Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome

Hiroyuki Kondo, Itsuka Matsushita, Tatsuo Nagata, Takaaki Hayashi, Masashi Kakinoki, Eiichi Uchio, Mineo Kondo, Masahito Ohji, Shunji Kusaka

Hum Genome Var. 2016; 3: 16018. Published online 2016 Jul 7. doi: 10.1038/hgv.2016.18

PMCID:: PMC4935762

Abstract Article PDF–226K

Select item 471385119.

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

Abstract Article PDF–670K

Select item 457526020.

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

Julie Jurgens, Nara Sobreira, Peggy Modaff, Catherine A. Reiser, Soo Hyun Seo, Moon-Woo Seong, Sung Sup Park, Ok Hwa Kim, Tae-Joon Cho, Richard M. Pauli

Hum Mutat. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Hum Mutat. 2015 Oct; 36(10): 1004–1008. Published online 2015 Aug 6. doi: 10.1002/humu.22839

PMCID:: PMC4575260

Abstract Article PDF–425K

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