Works by Irving, Melita

Results: 67
    1

    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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    Neoantigen-specific CD8 T cells with high structural avidity preferentially reside in and eliminate tumors.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38946-z
    By:
    • Schmidt, Julien;
    • Chiffelle, Johanna;
    • Perez, Marta A. S.;
    • Magnin, Morgane;
    • Bobisse, Sara;
    • Arnaud, Marion;
    • Genolet, Raphael;
    • Cesbron, Julien;
    • Barras, David;
    • Navarro Rodrigo, Blanca;
    • Benedetti, Fabrizio;
    • Michel, Alexandra;
    • Queiroz, Lise;
    • Baumgaertner, Petra;
    • Guillaume, Philippe;
    • Hebeisen, Michael;
    • Michielin, Olivier;
    • Nguyen-Ngoc, Tu;
    • Huber, Florian;
    • Irving, Melita
    Publication type:
    Article
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    European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

    Published in:
    Advances in Therapy, 2024, v. 41, n. 7, p. 2545, doi. 10.1007/s12325-024-02880-3
    By:
    • Fredwall, Svein;
    • AlSayed, Moeenaldeen;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valérie;
    • Fauroux, Brigitte;
    • Guillén-Navarro, Encarna;
    • Innig, Florian;
    • Kunkel, Philip;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Pejin, Zagorka;
    • Sessa, Marco;
    • Sousa, Sérgio B.;
    • Irving, Melita
    Publication type:
    Article
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    T cell receptor precision editing of regulatory T cells for celiac disease.

    Published in:
    Science Translational Medicine, 2025, v. 17, n. 790, p. 1, doi. 10.1126/scitranslmed.adr8941
    By:
    • Porret, Raphaël;
    • Alcaraz-Serna, Ana;
    • Peter, Benjamin;
    • Bernier-Latmani, Jeremiah;
    • Cecchin, Rebecca;
    • Alfageme-Abello, Oscar;
    • Ermellino, Laura;
    • Hafezi, Morteza;
    • Pace, Eleonora;
    • du Pré, M. Fleur;
    • Lana, Erica;
    • Golshayan, Dela;
    • Velin, Dominique;
    • Eyquem, Justin;
    • Tang, Qizhi;
    • Petrova, Tatiana V.;
    • Coukos, George;
    • Irving, Melita;
    • Pot, Caroline;
    • Pantaleo, Giuseppe
    Publication type:
    Article
    12

    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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    Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity.

    Published in:
    Annals of Neurology, 2008, v. 64, n. 3, p. 294, doi. 10.1002/ana.21439
    By:
    • Pace, Rishika A.;
    • Peat, Rachel A.;
    • Baker, Naomi L.;
    • Zamurs, Laura;
    • Mörgelin, Matthias;
    • Irving, Melita;
    • Adams, Naomi E.;
    • Bateman, John F.;
    • Mowat, David;
    • Smith, Nicholas J. C.;
    • Lamont, Phillipa J.;
    • Moore, Steven A.;
    • Mathews, Katherine D.;
    • North, Kathryn N.;
    • Lamandé, Shireen R.
    Publication type:
    Article
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    Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery

    Published in:
    Science Progress, 2021, p. 1, doi. 10.1177/00368504211003782
    By:
    • Savarirayan, Ravi;
    • Irving, Melita;
    • Maixner, Wirginia;
    • Thompson, Dominic;
    • Offiah, Amaka C;
    • Connolly, Daniel JA;
    • Raghavan, Ashok;
    • Powell, James;
    • Kronhardt, Marcin;
    • Jeha, George;
    • Ghani, Sajda;
    • Fisheleva, Elena;
    • Day, Jonathan RS
    Publication type:
    Article
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    Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

    Published in:
    BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00993-0
    By:
    • Sabir, Ataf H.;
    • Morley, Elizabeth;
    • Sheikh, Jameela;
    • Calder, Alistair D.;
    • Beleza-Meireles, Ana;
    • Cheung, Moira S.;
    • Cocca, Alessandra;
    • Jansson, Mattias;
    • Lillis, Suzanne;
    • Patel, Yogen;
    • Yau, Shu;
    • Hall, Christine M.;
    • Offiah, Amaka C.;
    • Irving, Melita
    Publication type:
    Article
    20

    Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

    Published in:
    BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00993-0
    By:
    • Sabir, Ataf H.;
    • Morley, Elizabeth;
    • Sheikh, Jameela;
    • Calder, Alistair D.;
    • Beleza-Meireles, Ana;
    • Cheung, Moira S.;
    • Cocca, Alessandra;
    • Jansson, Mattias;
    • Lillis, Suzanne;
    • Patel, Yogen;
    • Shu Yau;
    • Hall, Christine M.;
    • Offiah, Amaka C.;
    • Irving, Melita
    Publication type:
    Article
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    Growth reference charts for children with hypochondroplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431
    By:
    • Cheung, Moira S.;
    • Cole, Tim J.;
    • Arundel, Paul;
    • Bridges, Nicola;
    • Burren, Christine P.;
    • Cole, Trevor;
    • Davies, Justin Huw;
    • Hagenäs, Lars;
    • Högler, Wolfgang;
    • Hulse, Anthony;
    • Mason, Avril;
    • McDonnell, Ciara;
    • Merker, Andrea;
    • Mohnike, Klaus;
    • Sabir, Ataf;
    • Skae, Mars;
    • Rothenbuhler, Anya;
    • Warner, Justin;
    • Irving, Melita
    Publication type:
    Article
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    Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.

    Published in:
    Clinical Pharmacokinetics, 2024, v. 63, n. 5, p. 707, doi. 10.1007/s40262-024-01371-6
    By:
    • Qi, Yulan;
    • Chan, Ming Liang;
    • Mould, Diane R.;
    • Larimore, Kevin;
    • Fisheleva, Elena;
    • Cherukuri, Anu;
    • Day, Jonathan;
    • Savarirayan, Ravi;
    • Irving, Melita;
    • Bacino, Carlos A.;
    • Hoover-Fong, Julie;
    • Ozono, Keiichi;
    • Mohnike, Klaus;
    • Wilcox, William R.;
    • Bober, Michael B.;
    • Henshaw, Joshua
    Publication type:
    Article
    34

    Pharmacokinetics and Exposure–Response of Vosoritide in Children with Achondroplasia.

    Published in:
    Clinical Pharmacokinetics, 2022, v. 61, n. 2, p. 263, doi. 10.1007/s40262-021-01059-1
    By:
    • Chan, Ming Liang;
    • Qi, Yulan;
    • Larimore, Kevin;
    • Cherukuri, Anu;
    • Seid, Lori;
    • Jayaram, Kala;
    • Jeha, George;
    • Fisheleva, Elena;
    • Day, Jonathan;
    • Huntsman-Labed, Alice;
    • Savarirayan, Ravi;
    • Irving, Melita;
    • Bacino, Carlos A.;
    • Hoover-Fong, Julie;
    • Ozono, Keiichi;
    • Mohnike, Klaus;
    • Wilcox, William R.;
    • Horton, William A.;
    • Henshaw, Joshua
    Publication type:
    Article
    35

    The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 502, doi. 10.1002/ajmg.c.31738
    By:
    • Foster, Alison;
    • Zachariou, Anna;
    • Loveday, Chey;
    • Ashraf, Tazeen;
    • Blair, Edward;
    • Clayton‐Smith, Jill;
    • Dorkins, Huw;
    • Fryer, Alan;
    • Gener, Blanca;
    • Goudie, David;
    • Henderson, Alex;
    • Irving, Melita;
    • Joss, Shelagh;
    • Keeley, Vaughan;
    • Lahiri, Nayana;
    • Lynch, Sally Ann;
    • Mansour, Sahar;
    • McCann, Emma;
    • Morton, Jenny;
    • Motton, Nicole
    Publication type:
    Article
    36

    Sensitive identification of neoantigens and cognate TCRs in human solid tumors.

    Published in:
    Nature Biotechnology, 2022, v. 40, n. 5, p. 656, doi. 10.1038/s41587-021-01072-6
    By:
    • Arnaud, Marion;
    • Chiffelle, Johanna;
    • Genolet, Raphael;
    • Navarro Rodrigo, Blanca;
    • Perez, Marta A. S.;
    • Huber, Florian;
    • Magnin, Morgane;
    • Nguyen-Ngoc, Tu;
    • Guillaume, Philippe;
    • Baumgaertner, Petra;
    • Chong, Chloe;
    • Stevenson, Brian J.;
    • Gfeller, David;
    • Irving, Melita;
    • Speiser, Daniel E.;
    • Schmidt, Julien;
    • Zoete, Vincent;
    • Kandalaft, Lana E.;
    • Bassani-Sternberg, Michal;
    • Bobisse, Sara
    Publication type:
    Article
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    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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    Clinical utility gene card for: 3M syndrome.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.32
    By:
    • Holder-Espinasse, Muriel;
    • Irving, Melita;
    • Cormier-Daire, Valérie
    Publication type:
    Article
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    Optimising care and follow-up of adults with achondroplasia.

    Published in:
    Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02479-3
    By:
    • Fredwall, Svein;
    • Allum, Yana;
    • AlSayed, Moeenaldeen;
    • Alves, Inês;
    • Ben-Omran, Tawfeg;
    • Boero, Silvio;
    • Cormier-Daire, Valerie;
    • Guillen-Navarro, Encarna;
    • Irving, Melita;
    • Lampe, Christian;
    • Maghnie, Mohamad;
    • Mohnike, Klaus;
    • Mortier, Geert;
    • Sousa, Sérgio B.;
    • Wright, Michael
    Publication type:
    Article
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