Search Results - "Cole, W.G"

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia by Mundlos, S, Otto, F, Mundlos, C, Mulliken, J.B, Aylsworth, A.S, Albright, S, Lindhout, D, Cole, W.G, Henn, W, Knoll, J.H.M, Owen, M.J, Mertelsmann, R, Zabel, B.U, Olsen, B.R

“…Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth,…”
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Constitutively Activated Receptors for Parathyroid Hormone and Parathyroid Hormone–Related Peptide in Jansen's Metaphyseal Chondrodysplasia by Schipani, E, Langman, C.B, Parfitt, A.M, Jensen, G.S, Kikuchi, S, Kooh, S.W, Cole, W.G, Jüppner, H

“…Jansen's metaphyseal chondrodysplasia 1 is a rare form of short-limbed dwarfism caused by severe abnormalities of the growth plates. The condition is typically…”
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Effects of retention harvests on structure of old-growth Pinus strobus L. stands in Ontario by Bebber, D.P., Cole, W.G., Thomas, S.C., Balsillie, D., Duinker, P.

“…Retention of structural elements, or legacies, of old-growth stands at harvest has been proposed as a means of maintaining wildlife habitat and ecosystem…”
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Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5 by Laine, C.M, Susic, M, Prescott, T.E, Netzer, C, Fiskerstrand, T, Chung, B, Cole, W.G, Sochett, E, Mäkitie, O

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Flexion supracondylar fractures of the humerus in children: treatment by manipulation and extension cast by Williamson, D M, Cole, W G

“…We have reviewed, at an average of 7 years, 14 children with flexion supracondylar fractures of the humerus. These fractures accounted for 6 per cent of the…”
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Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia by Jackson, G C, Barker, F S, Jakkula, E, Czarny-Ratajczak, M, Mäkitie, O, Cole, W G, Wright, M J, Smithson, S F, Suri, M, Rogala, P, Mortier, G R, Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L, Briggs, M D

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda by Gedeon, A.K., Tiller, G.E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I.A., Savarirayan, R., Cole, W.G., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C.

“…The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused…”
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Heparan sulfate abnormalities in exostosis growth plates by Hecht, J.T, Hall, C.R, Snuggs, M, Hayes, E, Haynes, R, Cole, W.G

“…Hereditary multiple exostoses (HME), a condition associated with development and growth of bony exostoses at the ends of the long bones, is caused by germline…”
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TGF_β2 forms a complex with type X collagen by Gibson, G.J., Wang, X., Zhang, L., Cavey, G., Cole, W.G., Yang, M.

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Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia by Ridanpää, M, Ward, L M, Rockas, S, Särkioja, M, Mäkelä, H, Susic, M, Glorieux, F H, Cole, W G, Mäkitie, O

“…Background: The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. Methods:…”
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Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia by Chan, D, Taylor, T K, Cole, W G

“…A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes the alpha 1 (II) chain of type…”
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Ovine skin collagen dysplasia by McOrist, S, Thomas, K W, Bateman, J F, Cole, W G

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Effect of early hip decompression on the frequency of avascular necrosis in children with fractures of the neck of the femur by Ng, G.P.K., Cole, W.G.

“…Twenty-eight per cent of 32 children with fractures of the neck of the femur developed avascular necrosis. It occurred in three of the four type I fractures,…”
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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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A Novel Col1A1 Mutation in Infantile Cortical Hyperostosis (Caffey Disease) Expands the Spectrum of Collagen-Related Disorders by Gensure, R.C., Mäkitie, O., Barclay, C., Chan, C., DePalmer, S., Bastepe, M., Abuzahra, H., Couper, R., Seidman, J., Cole, W.G., Jüppner, H.

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Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia by Chan, D, Cole, W G

“…Cultured dermal fibroblasts were shown, using amplification of cDNA by the polymerase chain reaction, to produce very low levels of spliced transcripts from…”
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Isolated fractures of the lesser trochanter in children by Theologis, T.N., Epps, H., Latz, K., Cole, W.G.

“…In a retrospective study of 1126 children with fractures of the proximal third of the femur, three children were found to have isolated fractures of the lesser…”
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Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro by Chan, D, Lamande, S.R, Cole, W.G, Bateman, J.F

“…Procollagen biosynthesis and matrix deposition were studied in long-term human skin fibroblast cultures exposed to ascorbic acid. Ascorbic acid specifically…”
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Truncated α1(X) chains retaining NC1 domain sequences for chain association but lacking seqeunces for stabilization of type X collagen trimers produce Schmid metaphyseal chondrodysplasia by Chen, L., English, J., Gibson, G., Mundlos, S., Cole, W.G.

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A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro-α1(V) chains results in the gravis form of the ehlers-danlos syndrome (Type 1) by Wenstrup, R.J., Langland, G., Willing, M.C., D'Souza, V., Cole, W.G.

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