Works matching AU Irving, Melita

Results: 67
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    Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 303, doi. 10.1038/ng.779
    By:
    • Simpson, Michael A.;
    • Irving, Melita D.;
    • Asilmaz, Esra;
    • Gray, Mary J.;
    • Dafou, Dimitra;
    • Elmslie, Frances V.;
    • Mansour, Sahar;
    • Holder, Sue E.;
    • Brain, Caroline E.;
    • Burton, Barbara K.;
    • Kim, Katherine H.;
    • Pauli, Richard M.;
    • Aftimos, Salim;
    • Stewart, Helen;
    • Kim, Chong Ae;
    • Holder-Espinasse, Muriel;
    • Robertson, Stephen P.;
    • Drake, William M.;
    • Trembath, Richard C.
    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;
    • Shu Yau;
    • Hall, Christine M.;
    • Offiah, Amaka C.;
    • Irving, Melita
    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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    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
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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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    Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 517, doi. 10.1002/ajmg.a.62021
    By:
    • Botto, Lorenzo D.;
    • Meeths, Marie;
    • Campos‐Xavier, Belinda;
    • Bergamaschi, Rosalba;
    • Mazzanti, Laura;
    • Scarano, Emanuela;
    • Finocchi, Andrea;
    • Cancrini, Caterina;
    • Zirn, Birgit;
    • Kühnle, Ingrid;
    • Kramm, Christof Maria;
    • Alanay, Yasemin;
    • Jones, Wendy D.;
    • Irving, Melita;
    • Sabir, Ataf;
    • Henter, Jan‐Inge;
    • Borgström, Birgit;
    • Nordgren, Ann;
    • Hammarsjö, Anna;
    • Putti, Caterina
    Publication type:
    Article
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    Best practices in peri-operative management of patients with skeletal dysplasias.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2584, doi. 10.1002/ajmg.a.38357
    By:
    • White, Klane K.;
    • Bompadre, Viviana;
    • Goldberg, Michael J.;
    • Bober, Michael B.;
    • Cho, Tae‐Joon;
    • Hoover‐Fong, Julie E.;
    • Irving, Melita;
    • Mackenzie, William G.;
    • Kamps, Shawn E.;
    • Raggio, Cathleen;
    • Redding, Gregory J.;
    • Spencer, Samantha S.;
    • Savarirayan, Ravi;
    • Theroux, Mary C.
    Publication type:
    Article
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    Clinical and genetic aspects of KBG syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2835, doi. 10.1002/ajmg.a.37842
    By:
    • Low, Karen;
    • Ashraf, Tazeen;
    • Canham, Natalie;
    • Clayton‐Smith, Jill;
    • Deshpande, Charu;
    • Donaldson, Alan;
    • Fisher, Richard;
    • Flinter, Frances;
    • Foulds, Nicola;
    • Fryer, Alan;
    • Gibson, Kate;
    • Hayes, Ian;
    • Hills, Alison;
    • Holder, Susan;
    • Irving, Melita;
    • Joss, Shelagh;
    • Kivuva, Emma;
    • Lachlan, Kathryn;
    • Magee, Alex;
    • McConnell, Vivienne
    Publication type:
    Article
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    Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 572, doi. 10.1002/ajmg.a.35691
    By:
    • Ghanim, Mustafa;
    • Rossignol, Sylvie;
    • Delobel, Bruno;
    • Irving, Melita;
    • Miller, Owen;
    • Devisme, Louise;
    • Plennevaux, Jean‐Louis;
    • Lucidarme‐Rossi, Sophie;
    • Manouvrier, Sylvie;
    • Salah, Azzi;
    • Chivu, Olimpia;
    • Netchine, Irène;
    • Vincent‐Delorme, Catherine
    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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    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
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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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    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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    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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    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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