Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function
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Published in The Journal of biological chemistry (03.06.2011)
Published in The Journal of biological chemistry (03.06.2011)
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Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
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Published in Nature reviews. Genetics (01.10.2018)
Published in Nature reviews. Genetics (01.10.2018)
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A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone
Fijalkowski, Igor, Geets, Ellen, Steenackers, Ellen, Van Hoof, Viviane, Ramos, Feliciano J, Mortier, Geert, Fortuna, Ana Maria, Van Hul, Wim, Boudin, Eveline
Published in Journal of bone and mineral research (01.04.2016)
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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
Latorre-Pellicer, Ana, Ascaso, Ángela, Trujillano, Laura, Gil-Salvador, Marta, Arnedo, Maria, Lucia-Campos, Cristina, Antoñanzas-Pérez, Rebeca, Marcos-Alcalde, Iñigo, Parenti, Ilaria, Bueno-Lozano, Gloria, Musio, Antonio, Puisac, Beatriz, Kaiser, Frank J, Ramos, Feliciano J, Gómez-Puertas, Paulino, Pié, Juan
Published in International journal of molecular sciences (04.02.2020)
Published in International journal of molecular sciences (04.02.2020)
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Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
Garcia, Patricia, Fernandez-Hernandez, Rita, Cuadrado, Ana, Coca, Ignacio, Gomez, Antonio, Maqueda, Maria, Latorre-Pellicer, Ana, Puisac, Beatriz, Ramos, Feliciano J, Sandoval, Juan, Esteller, Manel, Mosquera, Jose Luis, Rodriguez, Jairo, Pié, J, Losada, Ana, Queralt, Ethel
Published in Nature communications (27.07.2021)
Published in Nature communications (27.07.2021)
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Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome
Cucco, Francesco, Sarogni, Patrizia, Rossato, Sara, Alpa, Mirella, Patimo, Alessandra, Latorre, Ana, Magnani, Cinzia, Puisac, Beatriz, Ramos, Feliciano J., Pié, Juan, Musio, Antonio
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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Financial toxicity in lung cancer: an assessment of magnitude, perception, and impact on quality of life
Hazell, S.Z., Fu, W., Hu, C., Voong, K.R., Lee, B., Peterson, V., Feliciano, J.L., Nicholas, L.H., McNutt, T.R., Han, P., Hales, R.K.
Published in Annals of oncology (01.01.2020)
Published in Annals of oncology (01.01.2020)
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Involving the European National Human Genetics Societies
Pignatti, Pier Franco, Ramos, Feliciano J
Published in European journal of human genetics : EJHG (01.12.2017)
Published in European journal of human genetics : EJHG (01.12.2017)
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Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
Arnedo, María, Ascaso, Ángela, Latorre-Pellicer, Ana, Lucia-Campos, Cristina, Gil-Salvador, Marta, Ayerza-Casas, Ariadna, Pablo, María Jesús, Gómez-Puertas, Paulino, Ramos, Feliciano J, Bueno-Lozano, Gloria, Pié, Juan, Puisac, Beatriz
Published in International journal of molecular sciences (25.08.2022)
Published in International journal of molecular sciences (25.08.2022)
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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
Müller-Barth, Ursula, Olivares, José L, Glorieux, Francis, Wagenstaller, Janine, Benet-Pagès, Anna, Loris, César, Jüppner, Harald, Strom, Tim M, Bastepe, Murat, Kaiser, Stephanie M, Shlossberg, Alan H, Lorenz-Depiereux, Bettina, Amyere, Mustapha, Badenhoop, Klaus, Rittmaster, Roger S, Ramos, Feliciano J, Vikkula, Miikka
Published in Nature genetics (01.11.2006)
Published in Nature genetics (01.11.2006)
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
Jacquemont, Sébastien, Curie, Aurore, des Portes, Vincent, Torrioli, Maria Giulia, Berry-Kravis, Elizabeth, Hagerman, Randi J, Ramos, Feliciano J, Cornish, Kim, He, Yunsheng, Paulding, Charles, Neri, Giovanni, Chen, Fei, Hadjikhani, Nouchine, Martinet, Danielle, Meyer, Joanne, Beckmann, Jacques S, Delange, Karine, Brun, Amandine, Bussy, Gerald, Gasparini, Fabrizio, Hilse, Talita, Floesser, Annette, Branson, Janice, Bilbe, Graeme, Johns, Donald, Gomez-Mancilla, Baltazar
Published in Science translational medicine (05.01.2011)
Published in Science translational medicine (05.01.2011)
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Introducing Dynamicity: Engineering Stress Relaxation Into Hydrogels Via Thiol‐Ene Modified Alginate for Mechanobiological in vitro Modeling of the Cornea
Feliciano, Antonio. J., Grant, Rhiannon, Fernández‐Pérez, Julia, Giselbrecht, Stefan, Baker, Matthew. B.
Published in Macromolecular bioscience (01.01.2024)
Published in Macromolecular bioscience (01.01.2024)
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A human STAT3 gain-of-function variant confers T cell dysregulation without predominant Treg dysfunction in mice
Schmitt, Erica G, Toth, Kelsey A, Risma, Samuel I, Kolicheski, Ana, Saucier, Nermina, Berríos, Rafael J Feliciano, Greenberg, Zev J, Leiding, Jennifer W, Bleesing, Jack J, Thatayatikom, Akaluck, Schuettpelz, Laura G, Edwards, John R, Vogel, Tiphanie P, Cooper, Megan A
Published in JCI insight (08.11.2022)
Published in JCI insight (08.11.2022)
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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
Deardorff, Matthew A., Kaur, Maninder, Yaeger, Dinah, Rampuria, Abhinav, Korolev, Sergey, Pie, Juan, Gil-Rodríguez, Concepcion, Arnedo, María, Loeys, Bart, Kline, Antonie D., Wilson, Meredith, Lillquist, Kaj, Siu, Victoria, Ramos, Feliciano J., Musio, Antonio, Jackson, Laird S., Dorsett, Dale, Krantz, Ian D.
Published in American journal of human genetics (01.03.2007)
Published in American journal of human genetics (01.03.2007)
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A long-duration gamma-ray burst of dynamical origin from the nucleus of an ancient galaxy
Levan, Andrew J., Malesani, Daniele B., Gompertz, Benjamin P., Nugent, Anya E., Nicholl, Matt, Oates, Samantha R., Perley, Daniel A., Rastinejad, Jillian, Metzger, Brian D., Schulze, Steve, Stanway, Elizabeth R., Inkenhaag, Anne, Zafar, Tayyaba, Agüí Fernández, J. Feliciano, Chrimes, Ashley A., Bhirombhakdi, Kornpob, de Ugarte Postigo, Antonio, Fong, Wen-fai, Fruchter, Andrew S., Fragione, Giacomo, Fynbo, Johan P. U., Gaspari, Nicola, Heintz, Kasper E., Hjorth, Jens, Jakobsson, Pall, Jonker, Peter G., Lamb, Gavin P., Mandel, Ilya, Mandhai, Soheb, Ravasio, Maria E., Sollerman, Jesper, Tanvir, Nial R.
Published in Nature astronomy (01.08.2023)
Published in Nature astronomy (01.08.2023)
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
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Published in Human molecular genetics (01.06.2014)
Published in Human molecular genetics (01.06.2014)
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Taking water efficiency to the next level: digital tools to reduce non-revenue water
Cassidy, J., Barbosa, B., Damião, M., Ramalho, P., Ganhão, A., Santos, A., Feliciano, J.
Published in Journal of hydroinformatics (01.05.2021)
Published in Journal of hydroinformatics (01.05.2021)
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Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Ascaso, Ángela, Latorre-Pellicer, Ana, Puisac, Beatriz, Trujillano, Laura, Arnedo, María, Parenti, Ilaria, Llorente, Elena, Puente-Lanzarote, Juan José, Matute-Llorente, Ángel, Ayerza-Casas, Ariadna, Kaiser, Frank J, Ramos, Feliciano J, Juste, Juan Pié, Bueno-Lozano, Gloria
Published in Journal of clinical research in pediatric endocrinology (01.06.2024)
Published in Journal of clinical research in pediatric endocrinology (01.06.2024)
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