PMC Articles for MedGen (Select 479768) - PMC

Select item 91857041.

A Novel Dominant COL11A1 Mutation Resulting in a Severe Skeletal Dysplasia

Sophia B Hufnagel, K Nicole Weaver, Robert B Hufnagel, Patricia I Bader, Elizabeth K Schorry, Robert J Hopkin

Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 10.

Published in final edited form as: Am J Med Genet A. 2014 Oct; 164A(10): 2607–2612. Published online 2014 Aug 4. doi: 10.1002/ajmg.a.36688

PMCID:: PMC9185704

Abstract Article PDF–355K

Select item 75070232.

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Thomas Nixon, Allan J. Richards, Adrian Lomas, Stephen Abbs, Pradeep Vasudevan, Annie McNinch, Philip Alexander, Martin P. Snead

Mol Genet Genomic Med. 2020 Sep; 8(9): e1354. Published online 2020 Jun 24. doi: 10.1002/mgg3.1354

PMCID:: PMC7507023

Abstract Article PDF–585K

Select item 61582033.

The mechanical impact of col11a2 loss on joints; col11a2 mutant zebrafish show changes to joint development and function, which leads to early-onset osteoarthritis

Elizabeth A. Lawrence, Erika Kague, Jessye A. Aggleton, Robert L. Harniman, Karen A. Roddy, Chrissy L. Hammond

Philos Trans R Soc Lond B Biol Sci. 2018 Nov 5; 373(1759): 20170335. Published online 2018 Sep 24. doi: 10.1098/rstb.2017.0335

PMCID:: PMC6158203

Abstract Article PDF–1.8M

Select item 38128544.

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

Abstract Article PDF–5.7M

Select item 36527765.

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

Abstract Article PDF–2.1M

Select item 32646866.

Dominant and Recessive Forms of Fibrochondrogenesis Resulting from Mutations at a Second Locus, COL11A2

Stuart W. Tompson, Eissa Ali Faqeih, Leena Ala-Kokko, Jacqueline T. Hecht, Rika Miki, Tara Funari, Vincent A. Funari, Lisette Nevarez, Deborah Krakow, Daniel H. Cohn

Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Am J Med Genet A. 2012 Feb; 158A(2): 309–314. Published online 2012 Jan 13. doi: 10.1002/ajmg.a.34406

PMCID:: PMC3264686

Abstract Article PDF–238K

Select item 29789447.

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina, Michael B. Bober, Virginia K. Proud, Tara Funari, Michael F. Wangler, Lisette Nevarez, Leena Ala-Kokko, William R. Wilcox, David R. Eyre, Deborah Krakow, Daniel H. Cohn

Am J Hum Genet. 2010 Nov 12; 87(5): 708–712. doi: 10.1016/j.ajhg.2010.10.009

PMCID:: PMC2978944

Abstract Article PDF–487K

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