Works matching DE "BONE disease genetics"

Results: 60
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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
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    Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaOnline Citation: Human Mutation, Mutation in Brief #626 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/626.pdfCommunicated 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
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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:
    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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    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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    Power-law hereditariness of hierarchical fractal bones.

    Published in:
    International Journal for Numerical Methods in Biomedical Engineering, 2013, v. 29, n. 12, p. 1338, doi. 10.1002/cnm.2572
    By:
    • Deseri, Luca;
    • Paola, Mario Di;
    • Zingales, Massimiliano;
    • Pollaci, Pietro
    Publication type:
    Article
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    Weismann-Netter-Stuhl Syndrome: A family report.

    Published in:
    Journal of Clinical Research in Pediatric Endocrinology, 2009, v. 1, n. 4, p. 194, doi. 10.4274/jcrpe.v1i4.45
    By:
    • Alp, Hayrullah;
    • Atabek, Mehmet Emre;
    • Pirgon, Özgür
    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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    Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect.

    Published in:
    Journal of Bone & Mineral Research, 2010, v. 25, n. 1, p. 82, doi. 10.1359/jbmr.090707
    By:
    • Perdu, Bram;
    • De Freitas, Fenna;
    • Frints, Suzanne G. M.;
    • Schouten, Meyke;
    • Barbosa, Mafalda;
    • Pinto-Basto, Jorge;
    • Reis-Lima, Margarida;
    • De Vernejoul, Marie-Christine;
    • Becker, Kristin;
    • Freckmann, Marie-Louise;
    • Keymolen, Kathlijn;
    • Haan, Eric;
    • Savarirayan, Ravi;
    • Koenig, Rainer;
    • Zabel, Bernhard;
    • Vanhoenacker, Filip M.;
    • Wim Van Hul;
    • Schrander-Stumpely, Connie
    Publication type:
    Article
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    Hereditary Dentin Defects.

    Published in:
    Journal of Dental Research, 2007, v. 86, n. 5, p. 392, doi. 10.1177/154405910708600502
    By:
    • Kim, J.-W.;
    • Simmer, J. P.
    Publication type:
    Article
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    Juvenile Paget's Disease.

    Published in:
    Indian Pediatrics, 2009, v. 46, n. 4, p. 354
    By:
    • INDUMATHI, C. K.;
    • DINAKAR, CHITRA;
    • ROSHAN, RAKESH
    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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