Works matching Bone disease genetics

Results: 488
    1

    Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): A questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were available.

    Published in:
    BMC Health Services Research, 2008, v. 8, p. 1, doi. 10.1186/1472-6963-8-116
    By:
    • Langston, Anne L.;
    • Johnston, Marie;
    • Francis, Jill;
    • Robertson, Clare;
    • Campbell, Marion K.;
    • Entwistle, Vikki A.;
    • Marteau, Theresa;
    • MacLennan, Graeme;
    • Weinman, John;
    • McCallum, Marilyn;
    • Miedzybrodska, Zosia;
    • Charnock, Keith;
    • Ralston, Stuart H.
    Publication type:
    Article
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    Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1500, doi. 10.3390/ijms23031500
    By:
    • Oton-Gonzalez, Lucia;
    • Mazziotta, Chiara;
    • Iaquinta, Maria Rosa;
    • Mazzoni, Elisa;
    • Nocini, Riccardo;
    • Trevisiol, Lorenzo;
    • D'Agostino, Antonio;
    • Tognon, Mauro;
    • Rotondo, John Charles;
    • Martini, Fernanda
    Publication type:
    Article
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    Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.

    Published in:
    Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1814, doi. 10.1002/jbmr.2517
    By:
    • Palagano, Eleonora;
    • Blair, Harry C;
    • Pangrazio, Alessandra;
    • Tourkova, Irina;
    • Strina, Dario;
    • Angius, Andrea;
    • Cuccuru, Gianmauro;
    • Oppo, Manuela;
    • Uva, Paolo;
    • Van Hul, Wim;
    • Boudin, Eveline;
    • Superti-Furga, Andrea;
    • Faletra, Flavio;
    • Nocerino, Agostino;
    • Ferrari, Matteo C;
    • Grappiolo, Guido;
    • Monari, Marta;
    • Montanelli, Alessandro;
    • Vezzoni, Paolo;
    • Villa, Anna
    Publication type:
    Article
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    Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were available.

    Published in:
    2008
    By:
    • Langston AL;
    • Johnston M;
    • Francis J;
    • Robertson C;
    • Campbell MK;
    • Entwistle VA;
    • Marteau T;
    • Maclennan G;
    • Weinman J;
    • McCallum M;
    • Miedzybrodska Z;
    • Charnock K;
    • Ralston SH;
    • Langston, Anne L;
    • Johnston, Marie;
    • Francis, Jill;
    • Robertson, Clare;
    • Campbell, Marion K;
    • Entwistle, Vikki A;
    • Marteau, Theresa
    Publication type:
    journal article
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    Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available?

    Published in:
    BMC Health Services Research, 2006, v. 6, p. 71, doi. 10.1186/1472-6963-6-71
    By:
    • Langston, Anne L.;
    • Johnston, Marie;
    • Robertson, Clare;
    • Campbell, Marion K.;
    • Entwistle, Vikki A.;
    • Marteau, Theresa M.;
    • McCallum, Marilyn;
    • Ralston, Stuart H.
    Publication type:
    Article
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    Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

    Published in:
    Nature Genetics, 2010, v. 42, n. 6, p. 520, doi. 10.1038/ng.562
    By:
    • Albagha, Omar M. E.;
    • Visconti, Micaela R.;
    • Alonso, Nerea;
    • Langston, Anne L.;
    • Cundy, Tim;
    • Dargie, Rosemary;
    • Dunlop, Malcolm G.;
    • Fraser, William D.;
    • Hooper, Michael J.;
    • Isaia, Gianluca;
    • Nicholson, Geoff C.;
    • del Pino Montes, Javier;
    • Gonzalez-Sarmiento, Rogelio;
    • di Stefano, Marco;
    • Tenesa, Albert;
    • Walsh, John P.;
    • Ralston, Stuart H.
    Publication type:
    Article
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    A new case of osteopoikilosis.

    Published in:
    2010
    By:
    • Jianu, Mihai;
    • Butufei, Tania;
    • Frumuseanu, Beatrice;
    • Damean, Raluca;
    • Stanciu, Albert
    Publication type:
    Case Study
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    Genetic approaches to metabolic bone diseases.

    Published in:
    British Journal of Clinical Pharmacology, 2019, v. 85, n. 6, p. 1147, doi. 10.1111/bcp.13803
    By:
    • Hannan, Fadil M.;
    • Newey, Paul J.;
    • Whyte, Michael P.;
    • Thakker, Rajesh V.
    Publication type:
    Article
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    The Genetics of Paget’s Disease of the Bone.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 1, p. 24, doi. 10.1210/jcem.86.1.7112
    By:
    • LEACH, ROBIN J.;
    • SINGER, FREDERICK R.;
    • ROODMAN, G. DAVID
    Publication type:
    Article
    35

    A new twist to bone formation.

    Published in:
    Nature Reviews Genetics, 2004, v. 5, n. 5, p. 330, doi. 10.1038/nrg1361
    By:
    • Wilson, Natalie
    Publication type:
    Article
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    Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia (Online Citation: Human Mutation, Mutation in Brief #626 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/626.pdf) Communicated by Mark H. Paalman)

    Published in:
    Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9155
    By:
    • Alessandra Tessa;
    • Sergio Salvi;
    • Carlo Casali;
    • Livia Garavelli;
    • M. Cristina Digilio;
    • M. Teresa Dotti;
    • Silvia Di Giandomenico;
    • Manuela Valoppi;
    • Gaetano S. Grieco;
    • Giovanna Comanducci;
    • Giacomo Bianchini;
    • Daniela Fortini;
    • Antonio Federico;
    • Aldo Giannotti;
    • Filippo M. Santorelli
    Publication type:
    Article