Search Results - "Cohn, D.H"

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene by Briggs, M.D, Hoffman, S.M.G, King, L.M, Olsen, A.S, Mohrenweiser, H, Leroy, J.G, Mortier, G.R, Rimoin, D.L, Lachman, R.S, Gaines, E.S, Cekleniak, J.A, Knowlton, R.G, Cohn, D.H

“…Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset…”
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Recessive multiple epiphyseal dysplasia by Ballhausen, D, Bonafe, L, Terhal, P, Unger, S.L, Bellus, G, Classen, M, Hamel, B.C, Spranger, J, Zabel, B, Cohn, D.H, Cole, W.G, Hecht, J.T, Supe

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Tandem Duplication Within a Type II Collagen Gene (COL2A1) Exon in an Individual with Spondyloepiphyseal Dysplasia by Tiller, George E., Rimoin, David L., Murray, Louann W., Cohn, Daniel H.

“…We have characterized a mutation in the type II collagen gene (COL2A1) that produces a form of spondyloepiphyseal dysplasia. The mutation is an internal tandem…”
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An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis by Bogaert, R, Tiller, G E, Weis, M A, Gruber, H E, Rimoin, D L, Cohn, D H, Eyre, D R

“…The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita…”
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Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19 by Briggs, M D, Rasmussen, I M, Weber, J L, Yuen, J, Reinker, K, Garber, A P, Rimoin, D L, Cohn, D H

“…Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses…”
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Linkage of typical pseudoachondroplasia to chromosome 19 by Hecht, J T, Francomano, C A, Briggs, M D, Deere, M, Conner, B, Horton, W A, Warman, M, Cohn, D H, Blanton, S H

“…Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early…”
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Ehlers-Danlos type VIIC in human and dermatosparaxis in cattle are caused by mutations in the procollagen i amino-peptidase gene by Colige, A., Li, S.-W., Sieron, A.L., Cohn, D.H., Byers, P., Prockop, D.J., Lapière, Ch.M., Nusgens, B.V.

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High-Resolution Genetic and Physical Mapping of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Mutations at Chromosome 19p13.1-p12 by Knowlton, Robert G., Cekleniak, Julie A., Cohn, Daniel H., Briggs, Michael D., Hoffman, Susan M.G., Brandriff, Brigitte F., Olsen, Anne S.

“…Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are autosomal dominant chondrodysplasias that have similar phenotypes at both clinical and…”
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Heteroduplex analysis can increase the informativeness of PCR-amplified VNTR markers: application using a marker tightly linked to the COL2A1 gene by Wilkin, D J, Koprivnikar, K E, Cohn, D H

“…Variable number of tandem repeat (VNTR) polymorphisms provide a high degree of informativeness in linkage studies. Whether performed by standard methods or by…”
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Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene by TILLER, G. E, COHN, D. H

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