PMC Links for OMIM (Select 120280) - PMC

Select item 79014261.

Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation

Andrea Ciorba, Virginia Corazzi, Michela Melegatti, Anna Morgan, Giulia Pelliccione, Giorgia Girotto, Stefania Bigoni

J Int Adv Otol. 2021 Jan; 17(1): 81–83. Published online 2021 Jan 1. doi: 10.5152/iao.2020.8179

PMCID:: PMC7901426

Select item 64315782.

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Kevin T. Booth, James W. Askew, Zohreh Talebizadeh, Patrick L. M. Huygen, James Eudy, Judith Kenyon, Denise Hoover, Michael S. Hildebrand, Katherine R. Smith, Melanie Bahlo, William J. Kimberling, Richard J. H. Smith, Hela Azaiez, Shelley D. Smith

Genet Med. 2019; 21(4): 948–954. Published online 2018 Sep 24. doi: 10.1038/s41436-018-0285-0

PMCID:: PMC6431578

Abstract Article PDF–927K

Select item 29789443.

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

Select item 22763534.

A Functional Polymorphism in COL11A1, Which Encodes the α1 Chain of Type XI Collagen, Is Associated with Susceptibility to Lumbar Disc Herniation

Futoshi Mio, Kazuhiro Chiba, Yuichiro Hirose, Yoshiharu Kawaguchi, Yasuo Mikami, Takeshi Oya, Masaki Mori, Michihiro Kamata, Morio Matsumoto, Kouichi Ozaki, Toshihiro Tanaka, Atsushi Takahashi, Toshikazu Kubo, Tomoatsu Kimura, Yoshiaki Toyama, Shiro Ikegawa

Am J Hum Genet. 2007 Dec; 81(6): 1271–1277. Published online 2007 Oct 16. doi: 10.1086/522377

PMCID:: PMC2276353

Abstract Article PDF–231K

Select item 21081125.

A NEW CHONDRODYSTROPHIC MUTANT IN MICE : Electron Microscopy of Normal and Abnormal Chondrogenesis

R. Seegmiller, F. C. Fraser, H. Sheldon

J Cell Biol. 1971 Mar 1; 48(3): 580–593. doi: 10.1083/jcb.48.3.580

PMCID:: PMC2108112

Summary PDF–1.6M

Select item 19181656.

Of mice and men: heritable skeletal disorders.

O. Jacenko, B. R. Olsen, M. L. Warman

Am J Hum Genet. 1994 Feb; 54(2): 163–168.

PMCID:: PMC1918165

Summary Page Browse PDF–1.2M

Select item 13775677.

Marshall syndrome and a defect at the COL11A1 locus.

A Shanske, A Bogdanow, R J Shprintzen, R W Marion

Am J Hum Genet. 1998 Nov; 63(5): 1558–1561. doi: 10.1086/302110

PMCID:: PMC1377567

Summary PDF–2.4M

Select item 13770298.

Marshall syndrome associated with a splicing defect at the COL11A1 locus.

A J Griffith, L K Sprunger, D A Sirko-Osadsa, G E Tiller, M H Meisler, M L Warman

Am J Hum Genet. 1998 Apr; 62(4): 816–823. doi: 10.1086/301789

PMCID:: PMC1377029

Summary PDF–1.0M

Select item 12882689.

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny, Matthew L. Warman, Han G. Brunner, Helena Kääriäinen, John B. Mulliken, Lisbeth Tranebjærg, David G. Brooks, Gerald F. Cox, Johan R. Cruysberg, Mary A. Curtis, Sandra L. H. Davenport, Christopher A. Friedrich, Ilkka Kaitila, Maciej Robert Krawczynski, Anna Latos-Bielenska, Shitzuo Mukai, Björn R. Olsen, Nancy Shinno, Mirja Somer, Miikka Vikkula, Joel Zlotogora, Darwin J. Prockop, Leena Ala-Kokko

Am J Hum Genet. 1999 Oct; 65(4): 974–983. Published online 1999 Sep 14. doi: 10.1086/302585

PMCID:: PMC1288268

Abstract Article PDF–569K

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