يعرض 1 - 10 نتائج من 66 نتيجة بحث عن '"omodysplasia"', وقت الاستعلام: 1.38s تنقيح النتائج
  1. 1
    دورية أكاديمية
    FZD2 regulates limb development by mediating β-catenin-dependent and -independent Wnt signaling pathways

    المؤلفون: Xuming Zhu, Mingang Xu, N. Adrian Leu, Edward E. Morrisey, Sarah E. Millar

    المصدر: Disease Models & Mechanisms, Vol 16, Iss 3 (2023)

    مصطلحات موضوعية: fzd2, wnt, limb, robinow syndrome, omodysplasia, Medicine, Pathology, RB1-214

    وصف الملف: electronic resource

    Relation: http://dmm.biologists.org/content/16/3/dmm049876; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

    URL الوصول: https://doaj.org/article/137c4580968e4d02b47b51e0f226fc3b

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  2. 2
    دورية أكاديمية
    Dominant omodysplasia—A sporadic case—A new case report and review of the literature

    المؤلفون: Aidin Arabzadeh, Behnam Baghianimoghadam, Mohammad Hossein Nabian, Yousef Fallah, Mohammad Mehdi Ebrahimnasab

    المصدر: Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)

    مصطلحات موضوعية: criteria, diagnosis, dominant omodysplasia, Medicine, Medicine (General), R5-920

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2050-0904

    URL الوصول: https://doaj.org/article/bba9af50e5054dfb9bc01a61c0540ee7

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  3. 3
    دورية أكاديمية

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  4. 4
    دورية أكاديمية

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  5. 5
    دورية أكاديمية

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  6. 6
    دورية أكاديمية

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  7. 7
    Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

    المؤلفون: Gen Nishimura, Finn Stener Jørgensen, Morton Dunø, Hanne B Hove, Allan Bayat, Maria Kirchhoff

    المصدر: Bayat, A, Dunø, M, Kirchhoff, M, Jørgensen, F S, Nishimura, G & Hove, H B 2020, ' Novel clinical and radiological findings in a family with autosomal recessive omodysplasia ', Molecular Syndromology, vol. 11, no. 2, pp. 83-89 . https://doi.org/10.1159/000506384
    Mol Syndromol

    مصطلحات موضوعية: Omodysplasia, Autosomal dominant omodysplasia, Autosomal recessive omodysplasia, business.industry, Elbow, Radiological feature, Anatomy, medicine.disease, Short stature, Recessive omodysplasia, medicine.anatomical_structure, Novel Insights from Clinical Practice, Pathognomonic, Dysplasia, GPC6, Skeletal dysplasia, Genetics, medicine, medicine.symptom, Craniofacial, business, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d80ab3c39fc90f3da6f1594b3c644b7f
    https://doi.org/10.1159/000506384

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  8. 8
    Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations

    المؤلفون: Jules G. Leroy, Hannah Warren, Jaime L. Frias, Michael J. Friez, Neena L. Champaigne, Jürgen Spranger, Raymond J. Louie, Steven A. Skinner

    المصدر: Clinical Case Reports

    مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, media_common.quotation_subject, Nonsense, Case Report, Case Reports, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Medicine, Missense mutation, media_common, Omodysplasia, Autosomal dominant omodysplasia, business.industry, Rhizomelia, FRIZZLED2, rhizomelia, General Medicine, medicine.disease, Robinow syndrome, 030104 developmental biology, Dysplasia, omodysplasia, medicine.symptom, business

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d31b6ff5baed082bacad02f331a2a83
    http://europepmc.org/articles/PMC6230601

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  9. 9
    A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

    المؤلفون: Seval Türkmen, Nilay Güneş, Malte Spielmann, Beyhan Tüysüz, Ricarda Flöttmann, Alexej Knaus, Stefan Mundlos

    المصدر: Molecular Syndromology. 8:318-324

    مصطلحات موضوعية: 0301 basic medicine, Frizzled, Omodysplasia, Autosomal dominant omodysplasia, business.industry, Anatomy, Phalanx, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Novel Insights from Clinical Practice, Bilateral cleft lip, Dysplasia, Mutation (genetic algorithm), Genetics, medicine, Hypertelorism, medicine.symptom, business, Genetics (clinical)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e7d901f66fe1f47d2c913867005b87
    https://doi.org/10.1159/000479721

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  10. 10
    WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

    المؤلفون: Eveline Boudin, Wim Van Hul, Yentl Huybrechts, Geert Mortier

    المصدر: Frontiers in Endocrinology
    Frontiers in Endocrinology, Vol 11 (2020)
    Frontiers in endocrinology

    مصطلحات موضوعية: 0301 basic medicine, Frizzled, Endocrinology, Diabetes and Metabolism, Osteoporosis, Review, lcsh:Diseases of the endocrine glands. Clinical endocrinology, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, BRACHYDACTYLY TYPE-B, Receptor, SCLEROSTIN, skeletal dysplasias, Wnt Signaling Pathway, LRP5 MUTATIONS, Wnt signaling pathway, Phenotype, Cell biology, SOST GENE, medicine.anatomical_structure, CAUSES TETRA-AMELIA, Signal transduction, Bone Diseases, MASS PHENOTYPE, Life Sciences & Biomedicine, Wingless and int-1 (WNT)/beta-catenin pathway, 030209 endocrinology & metabolism, Biology, Bone and Bones, 03 medical and health sciences, Endocrinology & Metabolism, MISSENSE MUTATION, RECESSIVE ROBINOW-SYNDROME, Wingless and int-1 (WNT)/Ca2+ pathway, medicine, Wingless and int-1 (WNT)/β-catenin pathway, Animals, Humans, NONSENSE MUTATION, Wingless and Int-1 (WNT)/planar cell polarity (PCP) pathway, Science & Technology, lcsh:RC648-665, Cartilage, Genetic Diseases, Inborn, medicine.disease, osteoporosis, AUTOSOMAL-DOMINANT OMODYSPLASIA, Musculoskeletal Abnormalities, 030104 developmental biology, chemistry, Sclerostin, Human medicine

    وصف الملف: Electronic-eCollection

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11fd12db1140269726e685cb6eb84a33
    https://pubmed.ncbi.nlm.nih.gov/32328030

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