A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
Authors: Authors: Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC.
Hum Mol Genet
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Hum Mol Genet
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A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrix.
Authors: Authors: Rimoin DL, Rasmussen IM, Briggs MD, Roughley PJ, Gruber HE, Warman ML, Olsen BR, Hsia YE, Yuen J, Reinker K, et al.
Hum Genet
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Hum Genet
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Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21.
Authors: Authors: Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S, Olsen BR.
Genomics
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Genomics
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Of mice and men: heritable skeletal disorders.
Nutrition support for glutaric acidemia type I.
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
Authors: Authors: McIntosh I, Abbott MH, Warman ML, Olsen BR, Francomano CA.
Hum Mol Genet
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Hum Mol Genet
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Assembly and sequencing of a cDNA covering the entire mouse alpha 1(IX) collagen chain.
Linkage of typical pseudoachondroplasia to chromosome 19.
Authors: Authors: Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH.
Genomics
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Genomics
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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
Authors: Authors: Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al.
Cell
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Cell
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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
Authors: Authors: Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA.
Nat Genet
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Nat Genet
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