Search Results - "Treurniet, Sanne"

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    From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients by Storoni, Silvia, Verdonk, Sara J E, Zhytnik, Lidiia, Pals, Gerard, Treurniet, Sanne, Elting, Mariet W, Sakkers, Ralph J B, van den Aardweg, Joost G, Eekhoff, Elisabeth M W, Micha, Dimitra

    Published in Biomolecules (Basel, Switzerland) (02-02-2023)
    “…Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that causes bone fragility due to pathogenic variants in genes responsible for the…”
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    Journal Article
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    A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders by Treurniet, Sanne, Eekhoff, Elisabeth M W, Schmidt, Felix N, Micha, Dimitra, Busse, Björn, Bravenboer, Nathalie

    Published in Frontiers in endocrinology (Lausanne) (23-06-2020)
    “…Bone biopsies have been obtained for many centuries and are one of the oldest known medical procedures in history. Despite the introduction of new noninvasive…”
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    The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1 by Cayami, Ferdy K., Maugeri, Alessandra, Treurniet, Sanne, Setijowati, Eva D., Teunissen, Bernd P., Eekhoff, Elisabeth M.W., Pals, Gerard, Faradz, Sultana M., Micha, Dimitra

    Published in Molecular genetics & genomic medicine (01-08-2019)
    “…Background Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes…”
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    Journal Article
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    Deterioration of pulmonary function: An early complication in Fibrodysplasia Ossificans Progressiva by Botman, Esmée, Smilde, Bernard J., Hoebink, Max, Treurniet, Sanne, Raijmakers, Pieter, Kamp, Otto, Teunissen, Bernd P., Bökenkamp, Arend, Jak, Patrick, Lammertsma, Adriaan A., van den Aardweg, Joost G., Boonstra, Anco, Eekhoff, Elisabeth M.W.

    Published in Bone Reports (01-06-2021)
    “…Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disease characterized by the formation of heterotopic ossification (HO) in connective tissues. HO…”
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    Journal Article
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    Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva by Botman, Esmée, Teunissen, Bernd P, Raijmakers, Pieter, Graaf, Pim, Yaqub, Maqsood, Treurniet, Sanne, Schoenmaker, Ton, Bravenboer, Nathalie, Micha, Dimitra, Pals, Gerard, Bökenkamp, Arend, Netelenbos, J Coen, Lammertsma, Adriaan A, Eekhoff, Elisabeth MW

    Published in JBMR plus (01-06-2020)
    “…ABSTRACT Using [18F] Sodium Fuoride (NaF) Positron Emission Tomography (PET) it is not only possible to identify the ossifying potency of a flare‐up, but also…”
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    Eagle syndrome: tissue characteristics and structure of the styloid process by de Ruiter, Ruben D, Treurniet, Sanne, Bravenboer, Nathalie, Busse, Björn, Hendrickx, Jan Jaap, Jansen, Jeroen C, Dubois, Leander, Schreuder, Willem H, Micha, Dimitra, Teunissen, Bernd P, Raijmakers, Pieter G H M, Eekhoff, Elisabeth M W, von Brackel, Felix N

    Published in JBMR plus (01-10-2024)
    “…Eagle syndrome is a bone disease where elongation of the styloid process leads to throat and neck pain, and in severe cases neurovascular symptoms such as…”
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