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Items: 1 to 20 of 36

1.
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
ArticlePDF–305K
2.
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
ArticlePDF–1.0M
3.
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
ArticlePDF–425K
4.
Frequent mutation of the major cartilage collagen gene, COL2A1, in chondrosarcoma
Patrick S Tarpey, Sam Behjati, Susanna Cooke, Peter Van Loo, David C Wedge, Nischalan Pillay, John Marshall, Sarah O’Meara, Helen Davies, Serena Nik-Zainal, David Beare, Adam Butler, John Gamble, Claire Hardy, Jonathon Hinton, Ming Ming Jia, Alagu Jayakumar, David Jones, Calli Latimer, Mark Maddison, Sancha Martin, Stuart McLaren, Andrew Menzies, Laura Mudie, Keiran Raine, Jon W. Teague, Jose Tubio, Dina Halai, Roberto Tirabosco, Fernanda Amary, Peter J Campbell, Michael R Stratton, Adrienne M Flanagan, P. Andrew Futreal
Nat Genet. Author manuscript; available in PMC 2013 Aug 14.
Published in final edited form as: Nat Genet. 2013 Aug; 45(8): 923–926. Published online 2013 Jun 16. doi: 10.1038/ng.2668
PMCID:
PMC3743157
ArticlePDF–692K
5.
A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis
LEAH RAE DONAHUE, BO CHANG, SUBBURAMAN MOHAN, NAO MIYAKOSHI, JON E WERGEDAL, DAVID J BAYLINK, NORMAN L HAWES, CLIFFORD J ROSEN, PATRICIA WARD-BAILEY, QING Y ZHENG, RODERICK T BRONSON, KENNETH R JOHNSON, MURIEL T DAVISSON
J Bone Miner Res. Author manuscript; available in PMC 2010 May 4.
Published in final edited form as: J Bone Miner Res. 2003 Sep; 18(9): 1612–1621. doi: 10.1359/jbmr.2003.18.9.1612
Correction in:
J Bone Miner Res, volume 22 on page 2011
PMCID:
PMC2862909
ArticlePDF–1.3M
6.
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
K P Hoornaert, C Dewinter, I Vereecke, F A Beemer, W Courtens, A Fryer, H Fryssira, M Lees, A Müllner‐Eidenböck, D L Rimoin, L Siderius, A Superti‐Furga, K Temple, P J Willems, A Zankl, C Zweier, A De Paepe, P Coucke, G R Mortier
J Med Genet. 2006 May; 43(5): 406–413. Published online 2005 Sep 9. doi: 10.1136/jmg.2005.035717
PMCID:
PMC2564515
ArticlePDF–620K
7.
Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type
G Nishimura, E Nakashima, A Mabuchi, K Shimamoto, T Shimamoto, Y Shimao, T Nagai, T Yamaguchi, R Kosaki, H Ohashi, Y Makita, S Ikegawa
J Med Genet. 2004 Jan; 41(1): 75–79. doi: 10.1136/jmg.2003.013722
PMCID:
PMC1757240
SummaryPDF–489K
8.
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule
A Richards, J Morgan, P Bearcroft, E Pickering, M Owen, P Holmans, N Williams, C Tysoe, F Pope, M Snead, H Hughes
J Med Genet. 2002 Sep; 39(9): 661–665. doi: 10.1136/jmg.39.9.661
PMCID:
PMC1735224
SummaryPDF–392K
9.
Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.
M Godfrey, D W Hollister
Am J Hum Genet. 1988 Dec; 43(6): 904–913.
PMCID:
PMC1715608
SummaryPage BrowsePDF–2.2M
10.
Further evidence for the dispersion of the human fibrillar collagen genes.
C Huerre-Jeanpierre, M G Mattei, D Weil, K H Grzeschik, M L Chu, F O Sangiorgi, M E Sobel, F Ramirez, C Junien
Am J Hum Genet. 1986 Jan; 38(1): 26–37.
PMCID:
PMC1684719
SummaryPage BrowsePDF–1.3M
11.
Analysis of three restriction fragment length polymorphisms in the human type II procollagen gene.
C E Eng, C M Strom
Am J Hum Genet. 1985 Jul; 37(4): 719–732.
Correction in:
Am J Hum Genet. 1986 Jul; 39(1): 122.
PMCID:
PMC1684608
SummaryPage BrowsePDF–1.8M
12.
Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
J Körkkö, P Ritvaniemi, L Haataja, H Kääriäinen, K I Kivirikko, D J Prockop, L Ala-Kokko
Am J Hum Genet. 1993 Jul; 53(1): 55–61.
PMCID:
PMC1682228
SummaryPage BrowsePDF–1.1M
13.
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.
N N Ahmad, D M McDonald-McGinn, E H Zackai, R G Knowlton, D LaRossa, J DiMascio, D J Prockop
Am J Hum Genet. 1993 Jan; 52(1): 39–45.
PMCID:
PMC1682101
SummaryPage BrowsePDF–1.2M
14.
Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.
F M Pope, K S Cheah, A C Nicholls, A B Price, F G Grosveld
Br Med J (Clin Res Ed) 1984 Feb 11; 288(6415): 431–434. doi: 10.1136/bmj.288.6415.431
PMCID:
PMC1444740
SummaryPage BrowsePDF–1.5M
15.
Variation in the Vitreous Phenotype of Stickler Syndrome Can Be Caused by Different Amino Acid Substitutions in the X Position of the Type II Collagen Gly-X-Y Triple Helix
Allan J. Richards, David M. Baguley, John R. W. Yates, Carol Lane, Mary Nicol, Peter S. Harper, John D. Scott, Martin P. Snead
Am J Hum Genet. 2000 Nov; 67(5): 1083–1094. Published online 2000 Sep 25. doi: 10.1016/s0002-9297(07)62938-3
PMCID:
PMC1288550
ArticlePDF–1.0M
16.
Chondrocalcin is identical with the C-propeptide of type II procollagen.
M Van der Rest, L C Rosenberg, B R Olsen, A R Poole
Biochem J. 1986 Aug 1; 237(3): 923–925. doi: 10.1042/bj2370923
PMCID:
PMC1147077
SummaryPage BrowsePDF–497K
17.
Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens.
C T Baldwin, A M Reginato, C Smith, S A Jimenez, D J Prockop
Biochem J. 1989 Sep 1; 262(2): 521–528. doi: 10.1042/bj2620521
PMCID:
PMC1133299
SummaryPage BrowsePDF–1.3M
18.
Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.
B Sykes, R Smith, S Vipond, C Paterson, K Cheah, E Solomon
J Med Genet. 1985 Jun; 22(3): 187–191. doi: 10.1136/jmg.22.3.187
PMCID:
PMC1049423
SummaryPage BrowsePDF–519K
19.
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
W G Cole, R K Hall, J G Rogers
J Med Genet. 1993 Jan; 30(1): 27–35. doi: 10.1136/jmg.30.1.27
PMCID:
PMC1016230
SummaryPage BrowsePDF–3.4M
20.
Evidence for altered synthesis of type II collagen in patients with osteoarthritis.
F Nelson, L Dahlberg, S Laverty, A Reiner, I Pidoux, M Ionescu, G L Fraser, E Brooks, M Tanzer, L C Rosenberg, P Dieppe, A Robin Poole
J Clin Invest. 1998 Dec 15; 102(12): 2115–2125. doi: 10.1172/JCI4853
PMCID:
PMC509166
SummaryPDF–870K

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