Browsing by Author "2ed56ebc-f43f-4a4b-b0ff-423f0ac0bea3"

Now showing items 1-8 of 8

    • A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population 
      Faundes, Víctor; Malone, Geraldine; Newman, William G.; Banka, Siddharth (Nature Publishing Group, 2019)
      Determining the clinical significance of germline and somatic KMT2D missense variants (MVs) in Kabuki syndrome (KS) and cancers can be challenging. We analysed 1920 distinct KMT2D MVs that included 1535 germline MVs in ...
    • Appendiceal endometriosis differentially diagnosed from acute appendicitis 
      Astroza, Gastón; Faundes, Víctor; Nanjarí, René; Fleiderman, Marcelo; Sanz Rodríguez, Carlos E. (2010)
    • Congenital anomalies of poor prognosis. Genetics Consensus Committee Consenso de la Rama de Genética de la ... 
      Pardo Vargas, Rosa A.; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia (Sociedad Chilena de Pediatria, 2016)
      © 2016 Sociedad Chilena de Pediatría Introduction The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, ...
    • Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 
      O’Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Víctor; Wood, Jordan C.; Sveden, Abigail; Luria, Víctor; Jamra, Rami Abou; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Curro, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; Dubourg, Christèle; Eiset, Saga Elise; Escobar, Luis F.; Ferrarini, Alessandra; Haack, Tobias B.; Hashim, Mona; Heide, Solveig; Helbig, Katherine L.; Helbig, Ingo; Heredia, Raúl; Héron, Delphine; Isidor, Bertrand; Jonasson, Amy R.; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y.; Lavillaureix, Alinoë; Lu, Xin; Maas, Saskia M.; Maegawa, Gustavo H. B.; Marcelis, Carlo L. M.; Mark, Paul R.; Masruha, Marcelo R.; McLaughlin, Heather M.; McWalter, Kirsty; Melchinger, Esther U.; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L. P.; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Rieß, Angelika; Sánchez Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C.; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A.; Linden, Helio van der; Koningsbruggen, Silvana van; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G.; Wentzensen, Ingrid M.; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H. (Cell Press, 2019)
      We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three ...
    • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders 
      Faundes, Víctor; Newman, William G.; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J.; Demos, Michelle K.; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J.; Rankin, Julia; Robertson, Lisa; Temple, Karen (Cell Press, 2018)
      Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with ...
    • Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features 
      Baker, Emma K.; Arpone, Marta; Aliaga, Solange M.; Bretherton, Lesley; Kraan, Claudine M.; Bui, Minh; Slater, Howard R.; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael; Cohen, Jonathan; Cornish, Kim; Santa María Vásquez, Lorena; Faundes, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende, Angélica M.; Amor, David J.; Godle, David E. (BioMed Central, 2019)
      Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, ...
    • Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: Lessons for genetic counseling 
      Faundes, Víctor; Santa María, Lorena; Aliaga, Solange; Curotto, Bianca; Pugin, Angela; Alliende, María Angélica (Wiley-Liss Inc., 2015)
    • Novel molecular and clinical aspects of FMR1 in fragile x syndrome highlighting significance of mosaicism 
      Aliaga, S.; Baker, Emma K.; Kraan, C.; Arpone, Marta; Bui, Q.; Li, X.; Ling, Ling; Francis, D.; Hunter, Matthew; Elliot, J.; Rogers, Carolyn; Field, M.; Slater, Howard R.; Bretherton, Lesley; María, L.; Faundes, Víctor; Curotto, B.; Morales, P.; Trigo, C.; Salas, I.; Alliende, Angelica M.; Amor, David J.; Godler, David E. (Wiley, 2018-08)