Works matching Dysplasia

Results: 5000
    1

    Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.

    Published in:
    2021
    By:
    • Savarirayan, Ravi;
    • Tunkel, David E.;
    • Sterni, Laura M.;
    • Bober, Michael B.;
    • Cho, Tae-Joon;
    • Goldberg, Michael J.;
    • Hoover-Fong, Julie;
    • Irving, Melita;
    • Kamps, Shawn E.;
    • Mackenzie, William G.;
    • Raggio, Cathleen;
    • Spencer, Samantha A.;
    • Bompadre, Viviana;
    • White, Klane K.;
    • on behalf of the Skeletal Dysplasia Management Consortium;
    • on behalfof the Skeletal Dysplasia Management Consortium
    Publication type:
    journal article
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    A controversial question: Can morphometry and clinical history be enough to diagnose hippocampal dysplasia?

    Published in:
    Epileptic Disorders, 2024, v. 26, n. 3, p. 382, doi. 10.1002/epd2.20222
    By:
    • Arruda, Ianne Lucena;
    • Arruda, Rivus Ferreira;
    • da Silveira, Rayanne Maria Brandão;
    • Duarte, Jeana Torres Corso;
    • Guaranha, Mirian Salvadori Bittar;
    • Guilhoto, Laura Maria;
    • Carrete Júnior, Henrique;
    • Stavale, Joao Norberto;
    • Centeno, Ricardo Silva;
    • Yacubian, Elza Marcia Targas;
    • Peixoto‐Santos, Jose Eduardo
    Publication type:
    Article
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    Schimke immunoosseous dysplasia: defining skeletal features.

    Published in:
    2010
    By:
    • Hunter, Kshamta B.;
    • Lücke, Thomas;
    • Spranger, Jürgen;
    • Smithson, Sarah F.;
    • Alpay, Harika;
    • André, Jean-Luc;
    • Asakura, Yumi;
    • Bogdanovic, Radovan;
    • Bonneau, Dominique;
    • Cairns, Robyn;
    • Cransberg, Karlien;
    • Fründ, Stefan;
    • Fryssira, Helen;
    • Goodman, David;
    • Helmke, Knut;
    • Hinkelmann, Barbara;
    • Lama, Guiliana;
    • Lamfers, Petra;
    • Loirat, Chantal;
    • Majore, Silvia
    Publication type:
    journal article
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    Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases.

    Published in:
    Clinical Genetics, 2023, v. 104, n. 1, p. 100, doi. 10.1111/cge.14351
    By:
    • Díaz‐González, Francisca;
    • Parrón‐Pajares, Manuel;
    • Lucas‐Castro, Elsa;
    • Modamio‐Høybjør, Silvia;
    • Sentchordi‐Montané, Lucia;
    • Seidel, Verónica;
    • Prieto, Pablo;
    • Tarraso‐Urios, Guillermo;
    • Codina‐Sola, Marta;
    • Cueto‐González, Anna M.;
    • Ballesta‐Martínez, Mary J.;
    • Santos‐Simarro, Fernando;
    • Sousa, Sergio B.;
    • Heath, Karen E.
    Publication type:
    Article
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    Focal Cemento-Osseous Dysplasia: An Unusual Case Report.

    Published in:
    Indian Journal of Public Health Research & Development, 2019, v. 10, n. 11, p. 1092, doi. 10.5958/0976-5506.2019.03653.2
    By:
    • Panda, Swagatika;
    • Champatyray, Sreepreeti;
    • Sahoo, Alkananda;
    • Mohanty, Neeta
    Publication type:
    Article
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    Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

    Published in:
    Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 422, doi. 10.1002/mgg3.84
    By:
    • Goodwin, Alice F.;
    • Larson, Jacinda R.;
    • Jones, Kyle B.;
    • Liberton, Denise K.;
    • Landan, Maya;
    • Wang, Zhifeng;
    • Boekelheide, Anne;
    • Langham, Margaret;
    • Mushegyan, Vagan;
    • Oberoi, Snehlata;
    • Brao, Rosalie;
    • Wen, Timothy;
    • Johnson, Ramsey;
    • Huttner, Kenneth;
    • Grange, Dorothy K.;
    • Spritz, Richard A.;
    • Hallgrímsson, Benedikt;
    • Jheon, Andrew H.;
    • Klein, Ophir D.
    Publication type:
    Article
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    Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders.

    Published in:
    Journal of Bone & Mineral Research, 2023, v. 38, n. 5, p. 692, doi. 10.1002/jbmr.4799
    By:
    • Batkovskyte, Dominyka;
    • McKenzie, Fiona;
    • Taylan, Fulya;
    • Simsek‐Kiper, Pelin Ozlem;
    • Nikkel, Sarah M;
    • Ohashi, Hirofumi;
    • Stevenson, Roger E;
    • Ha, Thuong;
    • Cavalcanti, Denise P;
    • Miyahara, Hiroyuki;
    • Skinner, Steven A;
    • Aguirre, Miguel A;
    • Akçören, Zühal;
    • Utine, Gulen Eda;
    • Chiu, Tillie;
    • Shimizu, Kenji;
    • Hammarsjö, Anna;
    • Boduroglu, Koray;
    • Moore, Hannah W;
    • Louie, Raymond J
    Publication type:
    Article
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    Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

    Published in:
    Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1642, doi. 10.1002/jbmr.4639
    By:
    • Reilly, Madeline Louise;
    • Ain, Noor ul;
    • Muurinen, Mari;
    • Tata, Alice;
    • Huber, Céline;
    • Simon, Marleen;
    • Ishaq, Tayyaba;
    • Shaw, Nick;
    • Rusanen, Salla;
    • Pekkinen, Minna;
    • Högler, Wolfgang;
    • Knapen, Maarten F. C. M.;
    • van den Born, Myrthe;
    • Saunier, Sophie;
    • Naz, Sadaf;
    • Cormier‐Daire, Valérie;
    • Benmerah, Alexandre;
    • Makitie, Outi
    Publication type:
    Article
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