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Non-canonical imprinting, manifesting as post-fertilization placenta-specific parent-of-origin dependent methylation, is not conserved in humans Daskeviciute, Dagne; Chappell-Maor, Louise; Sainty, Becky; Arnaud, Philippe; Iglesias-Platas, Isabel; Simon, Carlos; Okae, Hiroaki; Arima, Takahiro; Vassena, Rita; Lartey, Jon; Monk, David Share Save
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaityte, Laima; Burnyte, Birute; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Ounap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irene; Eggermann, Thomas; Bliek, Jet; Tumer, Zeynep Share Save
Differential expression of PPP1R12A transcripts, including those harbouring alternatively spliced micro-exons, in placentae from complicated pregnancies Frew, Edward; Sainty, Rebecca; Chappell-Maor, Louise; Bone, Caitlin; Daskeviciute, Dagne; Russell, Sarah; Buhigas, Claudia; Iglesias-Platas, Isabel; Lartey, Jon; Monk, David Share Save
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome Baena, Neus; Monk, David; Aguilera, Cinthia; Fraga, Mario F.; Fernandez, Agustin F.; Gabau, Elisabeth; Corripio, Raquel; Capdevila, Nuria; Trujillo, Juan Pablo; Ruiz, Anna; Guitart, Miriam Share Save
Imprinting disorders Eggermann, Thomas; Monk, David; de Nanclares, Guiomar Perez; Kagami, Masayo; Giabicani, Eloise; Riccio, Andrea; Tumer, Zeynep; Kalish, Jennifer M.; Tauber, Maithe; Duis, Jessica; Weksberg, Rosanna; Maher, Eamonn R.; Begemann, Matthias; Elbracht, Miriam Share Save
Single-cell multi-omic analysis profiles defective genome activation and epigenetic reprogramming associated with human pre-implantation embryo arrest Mora, Jose Ramon Hernandez; Buhigas, Claudia; Clark, Stephen; Bonilla, Raquel Del Gallego; Daskeviciute, Dagne; Monteagudo-Sanchez, Ana; Poo-Llanillo, Maria Eugenia; Medrano, Jose Vicente; Simon, Carlos; Meseguer, Marcos; Kelsey, Gavin; Monk, David Share Save
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances Pignata, Laura; Cecere, Francesco; Verma, Ankit; Mele, Bruno Hay; Monticelli, Maria; Acurzio, Basilia; Giaccari, Carlo; Sparago, Angela; Hernandez Mora, Jose Ramon; Monteagudo-Sanchez, Ana; Esteller, Manel; Pereda, Arrate; Tenorio-Castano, Jair; Palumbo, Orazio; Carella, Massimo; Prontera, Paolo; Piscopo, Carmelo; Accadia, Maria; Lapunzina, Pablo; Cubellis, Maria Vittoria; Perez de Nanclares, Guiomar; Monk, David; Riccio, Andrea; Cerrato, Flavia Share Save
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences Eggermann, Thomas; Yapici, Elzem; Bliek, Jet; Pereda, Arrate; Begemann, Matthias; Russo, Silvia; Tannorella, Pierpaola; Calzari, Luciano; de Nanclares, Guiomar Perez; Lombardi, Paola; Temple, I. Karen; Mackay, Deborah; Riccio, Andrea; Kagami, Masayo; Ogata, Tsutomu; Lapunzina, Pablo; Monk, David; Maher, Eamonn R.; Tuemer, Zeynep Share Save
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome Sabria-Back, Joan; Monteagudo-Sanchez, Ana; Sanchez-Delgado, Marta; Ferguson-Smith, Anne C.; Gomez, Olga; Pertierra Cartada, Africa; Tenorio, Jair; Nevado, Julian; Lapunzina, Pablo; Pereda Aguirre, Arrate; Gimenez Sevilla, Carles; Toro Toro, Estefania; Perez de Nanclares, Guiomar; Monk, David Share Save
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances Monteagudo-Sanchez, Ana; Hernandez Mora, Jose Ramon; Simon, Carlos; Burton, Adam; Tenorio, Jair; Lapunzina, Pablo; Clark, Stephen; Esteller, Manel; Kelsey, Gavin; Pedro Lopez-Siguero, Juan; Perez de Nanclares, Guiomar; Torres-Padilla, Maria-Elena; Monk, David Share Save
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A case of intraplacental gestational choriocarcinoma; characterised by the methylation pattern of the early placenta and an absence of driver mutations Savage, Philip; Monk, David; Hernandez Mora, Jose R.; van der Westhuizen, Nick; Rauw, Jennifer; Tinker, Anna; Robinson, Wendy; Song, Qianqian; Seckl, Michael J.; Fisher, Rosemary A. Share Save
Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction Monteagudo-Sanchez, Ana; Sanchez-Delgado, Marta; Hernandez Mora, Jose Ramon; Tubio Santamaria, Nuria; Gratacos, Eduard; Esteller, Manel; Lopez de Heredia, Miguel; Nunes, Virgina; Choux, Cecile; Fauque, Patricia; Perez de Nanclares, Guiomar; Anton, Lauren; Elovitz, Michal A.; Iglesias-Platas, Isabel; Monk, David Share Save
Wnt/β-catenin signaling pathway safeguards epigenetic stability and homeostasis of mouse embryonic stem cells Theka, Ilda; Sottile, Francesco; Cammisa, Marco; Bonnin, Sarah; Sanchez-Delgado, Marta; Di Vicino, Umberto; Victoria Neguembor, Maria; Arumugam, Karthik; Aulicino, Francesco; Monk, David; Riccio, Andrea; Pia Cosma, Maria Share Save
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Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform Hernandez Mora, Jose R.; Tayama, Chiharu; Sanchez-Delgado, Marta; Monteagudo-Sanchez, Ana; Hata, Kenichiro; Ogata, Tsutomu; Medrano, Jose; Poo-Llanillo, Maria E.; Simon, Carlos; Moran, Sebastian; Esteller, Manel; Tenorio, Jair; Lapunzina, Pablo; Kagami, Masayo; Monk, David; Nakabayashi, Kazuhiko Share Save
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement Mantovani, Giovanna; Bastepe, Murat; Monk, David; de Sanctis, Luisa; Thiele, Susanne; Usardi, Alessia; Ahmed, S. Faisal; Bufo, Roberto; Choplin, Timothee; De Filippo, Gianpaolo; Devernois, Guillemette; Eggermann, Thomas; Elli, Francesca M.; Freson, Kathleen; Garcia Ramirez, Aurora; Germain-Lee, Emily L.; Groussin, Lionel; Hamdy, Neveen; Hanna, Patrick; Hiort, Olaf; Juppner, Harald; Kamenicky, Peter; Knight, Nina; Kottler, Marie-Laure; Le Norcy, Elvire; Lecumberri, Beatriz; Levine, Michael A.; Makitie, Outi; Martin, Regina; Angel Martos-Moreno, Gabriel; Minagawa, Masanori; Murray, Philip; Pereda, Arrate; Pignolo, Robert; Rejnmark, Lars; Rodado, Rebecca; Rothenbuhler, Anya; Saraff, Vrinda; Shoemaker, Ashley H.; Shore, Eileen M.; Silve, Caroline; Turan, Serap; Woods, Philip; Zillikens, M. Carola; Perez de Nanclares, Guiomar; Linglart, Agnes Share Save
PM20D1 is a quantitative trait locus associated with Alzheimer's disease Sanchez-Mut, Jose V.; Heyn, Holger; Silva, Bianca A.; Dixsaut, Lucie; Garcia-Esparcia, Paula; Vidal, Enrique; Sayols, Sergi; Glauser, Liliane; Monteagudo-Sanchez, Ana; Perez-Tur, Jordi; Ferrer, Isidre; Monk, David; Schneider, Bernard; Esteller, Manel; Graeff, Johannes Share Save
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