يعرض 1 - 10 نتائج من 35 نتيجة بحث عن '"Jackson, Gail C"', وقت الاستعلام: 1.26s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Pseudoachondroplasia and multiple epiphyseal dysplasia : a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

    المؤلفون: Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert

    المصدر: 1059-7794 ; Human mutation

    مصطلحات موضوعية: Human medicine

    وصف الملف: pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/isi/000300705300019

    الإتاحة: https://doi.org/10.1002/HUMU.21611Test
    https://hdl.handle.net/10067/972350151162165141Test
    https://repository.uantwerpen.be/docman/irua/73484b/1510.pdfTest

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  2. 2
    دورية أكاديمية
    Type IX Collagen Gene Mutations Can Result in Multiple Epiphyseal Dysplasia That Is Associated With Osteochondritis Dissecans and a Mild Myopathy

    المؤلفون: Jackson, Gail C., Marcus-Soekarman, Dominique, Stolte-Dijkstra, Irene, Verrips, Aad, Taylor, Jacqueline A., Briggs, Michael D.

    المصدر: Jackson , G C , Marcus-Soekarman , D , Stolte-Dijkstra , I , Verrips , A , Taylor , J A & Briggs , M D 2010 , ' Type IX Collagen Gene Mutations Can Result in Multiple Epiphyseal Dysplasia That Is Associated With Osteochondritis Dissecans and a Mild Myopathy ' , American Journal of Medical Genetics Part A , vol. 152A , no. 4 , pp. 863-869 . https://doi.org/10.1002/ajmg.a.33240Test

    مصطلحات موضوعية: multiple epiphyseal dysplasia, myopthathy, type IX collagen, cartilage, osteochondritis dissecans

    العلاقة: https://cris.maastrichtuniversity.nl/en/publications/f785a3b8-d430-4120-b3b0-432668902b91Test

    الإتاحة: https://doi.org/10.1002/ajmg.a.33240Test
    https://cris.maastrichtuniversity.nl/en/publications/f785a3b8-d430-4120-b3b0-432668902b91Test

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  3. 3
    دورية أكاديمية
    Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family

    المؤلفون: Tufan, A Cevik, Satiroglu-Tufan, N Lale, Jackson, Gail C, Semerci, C Nur, Solak, Savas, Yagci, Baki

    المصدر: European Journal of Human Genetics ; volume 15, issue 10, page 1023-1028 ; ISSN 1018-4813 1476-5438

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1038/sj.ejhg.5201882Test
    http://www.nature.com/articles/5201882.pdfTest
    http://www.nature.com/articles/5201882Test

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  4. 4
    دورية أكاديمية
    Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

    المؤلفون: Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Merrer, Martine Le, Cormier-Daire, Valerie, Hall, Christine M, Wright, Michael J, Bonafe, Luisa, Superti-Furga, Andrea, Briggs, Michael D

    المصدر: European Journal of Human Genetics ; volume 15, issue 2, page 150-154 ; ISSN 1018-4813 1476-5438

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1038/sj.ejhg.5201744Test
    http://www.nature.com/articles/5201744.pdfTest
    http://www.nature.com/articles/5201744Test

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  5. 5
    دورية أكاديمية
    Erratum: Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

    المؤلفون: Jakkula, Eveliina, Mäkitie, Outi, Czarny-Ratajczak, Malwina, Jackson, Gail C, Damignani, Rita, Susic, Miki, Briggs, Michael D, Cole, William G, Ala-Kokko, Leena

    المصدر: European Journal of Human Genetics ; volume 13, issue 10, page 1166-1166 ; ISSN 1018-4813 1476-5438

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1038/sj.ejhg.5201472Test
    http://www.nature.com/articles/5201472.pdfTest
    http://www.nature.com/articles/5201472Test

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  6. 6
    دورية أكاديمية
    Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

    المؤلفون: Jakkula, Eveliina, Mäkitie, Outi, Czarny-Ratacjzak, Malwina, Jackson, Gail C, Damignani, Rita, Susic, Miki, Briggs, Michael D, Cole, William G, Ala-Kokko, Leena

    المصدر: European Journal of Human Genetics ; volume 13, issue 3, page 292-301 ; ISSN 1018-4813 1476-5438

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1038/sj.ejhg.5201314Test
    http://www.nature.com/articles/5201314.pdfTest
    http://www.nature.com/articles/5201314Test

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  7. 7
    دورية أكاديمية
    Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

    المؤلفون: Zankl, Andreas, Jackson, Gail C., Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R., Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Wright, Michael J., Bonafe, Luisa, Superti-Furga, Andrea, Briggs, Michael D.

    المصدر: Zankl , A , Jackson , G C , Crettol , L M , Taylor , J , Elles , R , Mortier , G R , Spranger , J , Zabel , B , Unger , S , Le Merrer , M , Cormier-Daire , V , Hall , C M , Wright , M J , Bonafe , L , Superti-Furga , A & Briggs , M D 2007 , ' Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia ' , European Journal of Human Genetics , ....

    الإتاحة: https://doi.org/10.1038/sj.ejhg.5201744Test
    https://research.manchester.ac.uk/en/publications/0f8df1af-d226-4c72-a80d-0631069c9edaTest

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  8. 8
    دورية أكاديمية
    Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

    المؤلفون: Cotterill, Sally L., Jackson, Gail C., Leighton, Matthew P., Wagener, Raimund, Mäkitie, Outi, Cole, William G., Briggs, Michael D.

    المصدر: Cotterill , S L , Jackson , G C , Leighton , M P , Wagener , R , Mäkitie , O , Cole , W G & Briggs , M D 2005 , ' Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3 ' , Human Mutation , vol. 26 , no. 6 , pp. 557-565 . https://doi.org/10.1002/humu.20263Test

    مصطلحات موضوعية: Cartilage, Chaperone protein, Chondrodysplasias, Disease mechanism, Gene mutation, Matrilin-3, Multiple epiphyseal dysplasia, Protein misfolding

    الإتاحة: https://doi.org/10.1002/humu.20263Test
    https://research.manchester.ac.uk/en/publications/78ddbf7e-51cf-4d15-83dd-b23b015eee7aTest

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  9. 9
    دورية أكاديمية
    Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

    المؤلفون: Jakkula, Eveliina, Mäkitie, Outi, Czarny-Ratacjzak, Malwina, Jackson, Gail C., Damignani, Rita, Susic, Miki, Briggs, Michael D., Cole, William G., Ala-Kokko, Leena

    المصدر: Jakkula , E , Mäkitie , O , Czarny-Ratacjzak , M , Jackson , G C , Damignani , R , Susic , M , Briggs , M D , Cole , W G & Ala-Kokko , L 2005 , ' Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations ' , European Journal of Human Genetics , vol. 13 , no. 3 , pp. 292-301 . https://doi.org/10.1038/sj.ejhg.5201314Test

    مصطلحات موضوعية: Cartilage, Chondrodysplasia, COL9A1, COL9A2, COMP, DTDST, MATN3, MED

    الإتاحة: https://doi.org/10.1038/sj.ejhg.5201314Test
    https://research.manchester.ac.uk/en/publications/41e2511f-b3f1-4041-b448-8b24916bff31Test

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  10. 10
    دورية أكاديمية
    Clinical and Radiographic Findings in Multiple Epiphyseal Dysplasia Caused by MATN3 Mutations: Description of 12 Patients

    المؤلفون: Mäkitie, Outi, Mortier, Geert R., Czarny-Ratajczak, Malwina, Wright, Michael J., Suri, Mohnish, Rogala, Piotr, Freund, Margarida, Jackson, Gail C., Jakkula, Eveliina, Ala-Kokko, Leena, Briggs, Michael D., Cole, William G.

    المصدر: Mäkitie , O , Mortier , G R , Czarny-Ratajczak , M , Wright , M J , Suri , M , Rogala , P , Freund , M , Jackson , G C , Jakkula , E , Ala-Kokko , L , Briggs , M D & Cole , W G 2004 , ' Clinical and Radiographic Findings in Multiple Epiphyseal Dysplasia Caused by MATN3 Mutations: Description of 12 Patients ' , American Journal of Medical Genetics. Part A , vol. 125 , no. 3 , pp. 278-284 . https://doi.org/10.1002/ajmg.a.20486Test

    مصطلحات موضوعية: Cartilage, Gene mutation, Genua valga, Matrilin, Phenotype, Radiographic findings

    الإتاحة: https://doi.org/10.1002/ajmg.a.20486Test
    https://research.manchester.ac.uk/en/publications/a0fa297a-37be-4de8-b31a-152bad78f3fbTest

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