PMC Links for Nucleotide (Select 193083158) - PMC

Select item 70570851.

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 60596772.

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 50709013.

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 48163604.

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

Abstract Article PDF–541K

Select item 44986355.

Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes

Yonghui Jin, Hassan Elalaf, Makoto Watanabe, Sakura Tamaki, Sho Hineno, Kazuhito Matsunaga, Knut Woltjen, Yukiko Kobayashi, Sanae Nagata, Makoto Ikeya, Tomohisa Kato, Jr, Takeshi Okamoto, Shuichi Matsuda, Junya Toguchida

PLoS One. 2015; 10(7): e0131998. Published online 2015 Jul 10. doi: 10.1371/journal.pone.0131998

PMCID:: PMC4498635

Abstract Article PDF–1.9M

Select item 40650606.

A Novel p. Gly630Ser Mutation of COL2A1 in a Chinese Family with Presentations of Legg–Calvé–Perthes Disease or Avascular Necrosis of the Femoral Head

Na Li, Jian Yu, Xiang Cao, Qiu-Yue Wu, Wei-Wei Li, Tian-Fu Li, Cui Zhang, Ying-Xia Cui, Xiao-Jun Li, Zhi-Min Yin, Xin-Yi Xia

PLoS One. 2014; 9(6): e100505. Published online 2014 Jun 20. doi: 10.1371/journal.pone.0100505

PMCID:: PMC4065060

Abstract Article PDF–2.7M

Select item 33302087.

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

Abstract Article PDF–650K

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