Search Results - Aglan, M.

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  1. 1
    Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

    Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations by Caparrós-Martín, Jose, Valencia, M., Pulido, V., Martínez-Glez, V., Rueda-Arenas, I., Amr, K., Farra, C., Lapunzina, P., Ruiz-Perez, V., Temtamy, S., Aglan, M.

    Published 2013
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  2. 2
    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

    Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects by Valencia, M., Caparrós-Martín, Jose, Sirerol-Piquer, M., García-Verdugo, J., Martínez-Glez, V., Lapunzina, P., Temtamy, S., Aglan, M., Lund, A., Nikkels, P., Ruiz-Perez, V., Ostergaard, E.

    Published 2014
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  3. 3
    Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

    Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum by Puig-Hervás, M., Temtamy, S., Aglan, M., Valencia, M., Martínez-Glez, V., Ballesta-Martínez, M., López-González, V., Ashour, A., Amr, K., Pulido, V., Guillén-Navarro, E., Lapunzina, P., Caparrós-Martín, Jose, Ruiz-Perez, V.

    Published 2012
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  4. 4
    Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium

    Specific variants in WDR35 cause a distinctive form of ellis-van creveld syndrome by disrupting the recruitment of the evc complex and smo into the cilium by Caparrós-Martín, Jose, De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J., Nevado, J., Rueda-Arenas, I., Heath, K., Digilio, M., Dallapiccola, B., Goodship, J., Mill, P., Lapunzina, P., Ruiz-Perez, V.

    Published 2015
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  5. 5
    Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta by Caparrós-Martín, Jose, Aglan, M., Temtamy, S., Otaify, G., Valencia, M., Nevado, J., Vallespin, E., Del Pozo, A., Prior de Castro, C., Calatrava-Ferreras, L., Gutierrez, P., Bueno, A., Sagastizabal, B., Guillen-Navarro, E., Ballesta-Martinez, M., Gonzalez, V., Basaran, S., Buyukoglan, R., Sarikepe, B., Espinoza-Valdez, C., Cammarata-Scalisi, F., Martinez-Glez, V., Heath, K., Lapunzina, P., Ruiz-Perez, V.

    Published 2017
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  6. 6
    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy by Estañ, M., Fernández-Núñez, E., Zaki, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, Jose, Saade, D., Hu, Y., Bolduc, V., Chao, K., Nevado, J., Lamuedra, A., Largo, R., Herrero-Beaumont, G., Regadera, J., Hernandez-Chico, C., Tizzano, E., Martinez-Glez, V., Carvajal, J., Zong, R., Nelson, D., Otaify, G., Temtamy, S., Aglan, M., Issa, M., Bönnemann, C., Lapunzina, P., Yoon, G., Ruiz-Perez, V.

    Published 2019
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  7. 7
    Mutations in WNT1 cause different forms of bone fragility

    Mutations in WNT1 cause different forms of bone fragility by Keupp, K., Beleggia, F., Kayserili, H., Barnes, A., Steiner, M., Semler, O., Fischer, B., Yigit, G., Janda, C., Becker, J., Breer, S., Altunoglu, U., Grünhagen, J., Krawitz, P., Hecht, J., Schinke, T., Makareeva, E., Lausch, E., Cankaya, T., Caparrós-Martín, Jose, Lapunzina, P., Temtamy, S., Aglan, M., Zabel, B., Eysel, P., Koerber, F., Leikin, S., Garcia, K., Netzer, C., Schönau, E., Ruiz-Perez, V., Mundlos, S., Amling, M., Kornak, U., Marini, J., Wollnik, B.

    Published 2013
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