Works matching Achondroplasia


Results: 1069
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    Management of sleep-disordered breathing in achondroplasia: guiding principles of the European Achondroplasia Forum.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03717-0
    By:
    • Fauroux, Brigitte;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Boon, Mieke;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Irving, Melita;
    • Kunkel, Philip;
    • Madureira, Núria;
    • Maghnie, Mohamad;
    • Milerad, Josef;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Nobili, Lino;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.

    Published in:
    2021
    By:
    • Hoover-Fong, Julie E.;
    • Schulze, Kerry J.;
    • Alade, Adekemi Y.;
    • Bober, Michael B.;
    • Gough, Ethan;
    • Hashmi, S. Shahrukh;
    • Hecht, Jacqueline T.;
    • Legare, Janet M.;
    • Little, Mary Ellen;
    • Modaff, Peggy;
    • Pauli, Richard M.;
    • Rodriguez-Buritica, David F.;
    • Serna, Maria E.;
    • Smid, Cory;
    • Liu, Chengxin;
    • McGready, John
    Publication type:
    journal article
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    European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02795-2
    By:
    • Irving, Melita;
    • AlSayed, Moeenaldeen;
    • Arundel, Paul;
    • Baujat, Geneviève;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fredwall, Svein;
    • Guillen-Navarro, Encarna;
    • Hoyer-Kuhn, Heike;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03621-7
    By:
    • Guillen-Navarro, Encarna;
    • AlSayed, Moeenaldeen;
    • Alves, Inês;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Fredwall, Svein;
    • Irving, Melita;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Lausch, Ekkehart;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.
    Publication type:
    Article
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    What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

    Published in:
    Genes, 2023, v. 14, n. 1, p. 199, doi. 10.3390/genes14010199
    By:
    • Sforza, Elisabetta;
    • Margiotta, Gaia;
    • Giorgio, Valentina;
    • Limongelli, Domenico;
    • Proli, Francesco;
    • Kuczynska, Eliza Maria;
    • Leoni, Chiara;
    • De Rose, Cristina;
    • Trevisan, Valentina;
    • Romeo, Domenico Marco;
    • Calandrelli, Rosalinda;
    • De Corso, Eugenio;
    • Massimi, Luca;
    • Palmacci, Osvaldo;
    • Rigante, Donato;
    • Zampino, Giuseppe;
    • Onesimo, Roberta
    Publication type:
    Article
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    Anesthesia for cesarean section in a patient with achondroplasia.

    Published in:
    Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2012, v. 40, n. 4, p. 309
    By:
    • Osorio Rudasa, Walter;
    • Socha García, Nury Isabel;
    • Upegui, Alejandro;
    • Ríos Medina, Ángela;
    • Moran, Adrian;
    • Aguirre Ospina, Oscar;
    • Rivera, Carlos
    Publication type:
    Article
    44

    Achondroplasia and periodontal disease.

    Published in:
    Journal of Indian Society of Periodontology, 2012, v. 16, n. 1, p. 138, doi. 10.4103/0972-124X.94624
    By:
    • Chawla, Kirti;
    • Lamba, Arundeep Kaur;
    • Faraz, Farrukh;
    • Tandon, Shruti
    Publication type:
    Article
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    Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02652-2
    By:
    • Maghnie, Mohamad;
    • Semler, Oliver;
    • Guillen-Navarro, Encarna;
    • Selicorni, Angelo;
    • Heath, Karen E.;
    • Haeusler, Gabriele;
    • Hagenäs, Lars;
    • Merker, Andrea;
    • Leiva-Gea, Antonio;
    • González, Vanesa López;
    • Raimann, Adalbert;
    • Rehberg, Mirko;
    • Santos-Simarro, Fernando;
    • Ertl, Diana-Alexandra;
    • Gregersen, Pernille Axél;
    • Onesimo, Roberta;
    • Landfeldt, Erik;
    • Jarrett, James;
    • Quinn, Jennifer;
    • Rowell, Richard
    Publication type:
    Article
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