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Listar por tema "Facies"

Listar por tema "Facies"

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  • Enfermedad de Hirschsprung asociada al síndrome de Mowat-Wilson: a propósito de un caso 
    Ferris-Villanueva, Elena; Guerrero-Bautista, Rocío; Chica-Marchal, Amelia (2015-04-01)
    INTRODUCTION: Hirschsprung's disease (HD) or aganglionicmegacolon is a congenital disorder characterized by the absence of ganglion intramural cells of the submucosal myenteric plexus (namely Auerbach and Meissner,respectively) ...
  • Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome 
    van-der-Laan, Liselot; Rooney, Kathleen; Alders, Marielle; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael-A; Lauffer, Peter; Aerden, Mio; Theunis, Miel; Legius, Eric; Tedder, Matthew-L; Vissers, Lisenka-ELM; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette-J; Wieczorek, Dagmar; Bramswig, Nuria-C; Herget, Theresia; López-González, Vanesa; Santos-Simarro, Fernando; Torring, Pernille-M; Denomme-Pichon, Anne-Sophie; Isidor, Bertrand; Keren, Boris; Julia, Sophie; Schaefer, Elise; Francannet, Christine; Maillard, Pierre-Yves; Misra-Isrie, Mala; Van-Esch, Hilde; Mannens, Marcel-MAM; Sadikovic, Bekim; van-Haelst, Mieke-M; Henneman, Peter (MDPI, 2022-11)
    Clark-Baraitser syndrome is a rare autosomal dominant intellectual disability syndrome caused by pathogenic variants in the TRIP12 (Thyroid Hormone Receptor Interactor 12) gene. TRIP12 encodes an E3 ligase in the ubiquitin ...
  • Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies 
    Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge-M; Ballesta-Martínez, María-Juliana; Lyonnet, Stanislas; Sansovic, Ivona; Barakat, Tahsin-Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le-Guillou, Xavier; Le-Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stephanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlene; Courtin, Thomas; Abdallah, Hamza-Hadj; Ducreux, Stephanie; Laloy, Jean-Serene; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, Francois; Nicolas, Gael; Coussement, Aurelie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valerie; Charbonnier, Camille; de-Dieuleveult, Maud (SPRINGER, 2026-04-08)
    BACKGROUND: Recent advances in sequencing technologies have enhanced patient diagnosis; however, causal pathogenic variants remain unidentified for a significant number of patients due to limited understanding of certain ...
  • Primer caso espanol de discapacidad intelectual sindrómica con dismorfia facial, crisis y anomalías de extremidades por mutaciones bialélicas en el gen OTUD6B 
    Sánchez-Soler, María-José; Serrano-Antón, Ana-Teresa; López-González, Vanesa; Ballesta-Martínez, María-Juliana; Guillén-Navarro, Encarna (Elsevier Doyma, 2020)