DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

Authors: van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E.L.M., Dingemans, Alexander J.M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter

Source: In Genetics in Medicine March 2024 26(3)

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome.

Authors: Valentin, Ilia¹ (AUTHOR), Caro, Pilar¹ (AUTHOR), Fischer, Christine¹ (AUTHOR), Brennenstuhl, Heiko¹ (AUTHOR), Schaaf, Christian P.¹ (AUTHOR) christian.schaaf@med.uni¿heidelberg.de

Source: Clinical Genetics. Feb2025, p1. 11p. 5 Illustrations, 3 Charts.

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

Authors: Marbach, Felix, Lipska‐Ziętkiewicz, Beata S., Knurowska, Agata, Michaud, Vincent, Margot, Henri, Lespinasse, James, Tran Mau Them, Frédéric, Coubes, Christine, Park, Joohyun, Grosch, Sarah, Roggia, Cristiana, Grasshoff, Ute, Kalsner, Louisa, Denommé‐Pichon, Anne‐Sophie, Afenjar, Alexandra, Héron, Bénédicte, Keren, Boris, Caro, Pilar, Schaaf, Christian P.

Source: American journal of medical genetics.Part A. 188(9):2627-2636

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168258452.0x000001&indx=1&recIds=ETOCvdc_100168258452.0x000001

A retrospective analysis of growth hormone therapy in children with Schaaf–Yang syndrome

Authors: Hebach, Nils R., Caro, Pilar, Martin‐Giacalone, Bailey A., Lupo, Philip J., Marbach, Felix, Choukair, Daniela, Schaaf, Christian Patrick

Source: Clinical genetics. 100(3):298-307

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100137335171.0x000001&indx=1&recIds=ETOCvdc_100137335171.0x000001

Deletion of mTOR in liver epithelial cells enhances hepatic metastasis of colon cancer

Authors: Jiao, Long, Eickhoff, Roman, Egners, Antje, Jumpertz, Sandra, Roth, Johanna, Erdem, Merve, Kroh, Andreas, Duimel, Hans, López‐Iglesias, Carmen, Caro, Pilar, Heij, Lara R, Schmeding, Maximilian, Meierhofer, David, Neumann, Ulf P, Cramer, Thorsten

Source: Journal of pathology. 255(3):270-284

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131890974.0x000001&indx=1&recIds=ETOCvdc_100131890974.0x000001

Cardiac MRI in Patients with Acute Chest Pain

Authors: Broncano, Jordi, Bhalla, Sanjeev, Caro, Pilar, Hidalgo, Alberto, Vargas, Daniel, Williamson, Eric, Gutiérrez, Fernando, Luna, Antonio

Source: Radiographics. 41(1):8-31

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN625549412&indx=1&recIds=ETOCRN625549412

MEK1/2 inhibitor withdrawal reverses acquired resistance driven by BRAFV600E amplification whereas KRASG13D amplification promotes EMT-chemoresistance

Authors: Sale, Matthew, Balmanno, Kathryn, Saxena, Jayeta, Ozono, Eiko, Wojdyla, Katarzyna, McIntyre, Rebecca, Gilley, Rebecca, Woroniuk, Anna, Howarth, Karen, Hughes, Gareth, Dry, Jonathan, Arends, Mark, Caro, Pilar, Oxley, David, Ashton, Susan, Adams, David, Saez-Rodriguez, Julio, Smith, Paul, Cook, Simon

Source: Nature communications. 10(1):1-22

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135459836.0x000001&indx=1&recIds=ETOCvdc_100135459836.0x000001

Guía Clínica Española del Acceso Vascular para Hemodiálisis

Alternate Title: Spanish Clinical Guidelines on Vascular Access for Haemodialysis (English)

Authors: Ibeas, José, Roca-Tey, Ramon, Vallespín, Joaquín, Moreno, Teresa, Moñux, Guillermo, Martí-Monrós, Anna, del Pozo, José Luis, Gruss, Enrique, Ramírez de Arellano, Manel, Fontseré, Néstor, Arenas, María Dolores, Merino, José Luis, García-Revillo, José, Caro, Pilar, López-Espada, Cristina, Giménez-Gaibar, Antonio, Fernández-Lucas, Milagros, Valdés, Pablo, Fernández-Quesada, Fidel, de la Fuente, Natalia, Hernán, David, Arribas, Patricia, Sánchez de la Nieta, María Dolores, Martínez, María Teresa, Barba, Ángel

Source: In NEFROLOGÍA November 2017 37 Supplement 1:1-191

Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum.

Authors: Wimmer, Moritz Claudius, Brennenstuhl, Heiko, Hirsch, Steffen, Dötsch, Laura, Unser, Samy, Caro, Pilar, Schaaf, Christian Patrick

Source: Clinical Genetics; May2024, Vol. 105 Issue 5, p499-509, 11p

Subject Terms: PAIN threshold, COGNITIVE testing, CATALYTIC domains, SYNDROMES, GENETIC code, AGENESIS of corpus callosum

Spanish Clinical Guidelines on Vascular Access for Haemodialysis

Authors: Ibeas, José, Roca-Tey, Ramon, Vallespín, Joaquín, Moreno, Teresa, Moñux, Guillermo, Martí-Monrós, Anna, del Pozo, José Luis, Gruss, Enrique, de Arellano, Manel Ramírez, Fontseré, Néstor, Arenas, María Dolores, Merino, José Luis, García-Revillo, José, Caro, Pilar, López-Espada, Cristina, Giménez-Gaibar, Antonio, Fernández-Lucas, Milagros, Valdés, Pablo, Fernández-Quesada, Fidel, de la Fuente, Natalia, Hernán, David, Arribas, Patricia, de la Nieta, María Dolores Sánchez, Martínez, María Teresa, Barba, Ángel

Source: In NEFROLOGIA (English Edition) 2017 37 Supplement 1:1-191

P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases

Authors: Lesmann, Hellen, Moosa, Shahida, Pantel, Tori, Rosnev, Stanislav, Hustinx, Alexander, Javanmardi, Behnam, Knaus, Alexej, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Hagen, Merle ten, Caro, Pilar, Velmans, Clara, Höller, Matthias, Abdelrazek, Ibrahim, Elmakkawy, Gehad, Alaadin, Khoushoua, Coetzer, Kimberly Christine, Ebstein, Frédéric, Küry, Sebastian, Abdalla, Ebtesam, Elbracht, Miriam, Knopp, Cordula, Arlt, Annabelle, Graziano, Claudio, Artem, Borovikov, Uwineza, Annette, Marbach, Felix, Netzer, Christian, Jamra, Rami Abou, Nöthen, Markus, Lyon, Gholson, Krawitz, Peter, Hsieh, Tzung-Chien

Source: In Genetics in Medicine Open 2023 1(1) Supplement

Metabolic Signatures Uncover Distinct Targets in Molecular Subsets of Diffuse Large B Cell Lymphoma

Authors: Caro, Pilar, Kishan, Amar U., Norberg, Erik, Stanley, Illana A., Chapuy, Bjoern, Ficarro, Scott B., Polak, Klaudia, Tondera, Daniel, Gounarides, John, Yin, Hong, Zhou, Feng, Green, Michael R., Chen, Linfeng, Monti, Stefano, Marto, Jarrod A., Shipp, Margaret A., Danial, Nika N.

Source: In Cancer Cell 16 October 2012 22(4):547-560

Diffusion-Weighted Imaging of the Chest

Authors: Luna, Antonio, Sánchez-Gonzalez, Javier, Caro, Pilar

Source: In Magnetic Resonance Imaging Clinics of North America 2011 19(1):69-94

Mejora de la función pulmonar en fibrosis quística mediante insuflación-exuflación mecánica

Authors: Fuentes, Laura Azahara, Caro, Pilar, Garcia-Ruiz, Antonio Jose, Muñoz Gómez, Gregorio, Martín-Montañez, Elisa

Source: Anales de pediatría. 86(6):350-352

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182524329.0x000001&indx=1&recIds=ETOCvdc_100182524329.0x000001

Mitochondrial DNA sequences are present inside nuclear DNA in rat tissues and increase with age

Authors: Caro, Pilar, Gómez, José, Arduini, Alessandro, González-Sánchez, Mónica, González-García, Miriam, Borrás, Consuelo, Viña, José, Puertas, María J., Sastre, Juan, Barja, Gustavo

Source: In Mitochondrion 2010 10(5):479-486

Efecto de la restricción de aminoácidos excepto la metionina sobre el estrés oxidativo mitocondrial

Alternate Title: Effect of restricting amino acids except methionine on mitochondrial oxidative stress (English)

Authors: Caro, Pilar, Gómez, José, Sánchez, Inés, López-Torres, Mónica, Barja, Gustavo

Source: In Revista Espanola de Geriatria y Gerontologia 2009 44(4):194-199

Aspectos de la cortesia verbal en el aula de lengua extranjera: estudio de algunos ejemplos en Frances y en Español

Authors: Mestre de Caro, Pilar

Source: Lenguaje. December, 2013, Vol. 41 Issue 2, p407, 20 p.

La restricción de metionina en la dieta disminuye el estrés oxidativo en mitocondrias de corazón

Alternate Title: Methionine dietary restriction decreases oxidative stress in heart mitochondria (English)

Authors: Caro, Pilar, Sanz, Alberto, Gómez, José, Barja, Gustavo

Source: In Revista Espanola de Geriatria y Gerontologia 2006 41(6):334-339

Fe de errores de Guía Clínica Española del Acceso Vascular para Hemodiálisis

Alternate Title: Erratum to Spanish Clinical Guidelines on Vascular Access for Haemodialysis (English)

Authors: Ibeas, José, Roca-Tey, Ramon, Vallespín, Joaquín, Moreno, Teresa, Moñux, Guillermo, Martí-Monrós, Anna, del Pozo, José Luis, Gruss, Enrique, Ramírez de Arellano, Manel, Fontseré, Néstor, Arenas, María Dolores, Merino, José Luis, García-Revillo, José, Caro, Pilar, López-Espada, Cristina, Giménez-Gaibar, Antonio, Fernández-Lucas, Milagros, Valdés, Pablo, Fernández-Quesada, Fidel, de la Fuente, Natalia, Hernán, David, Arribas, Patricia, Sánchez de la Nieta, María Dolores, Martínez, María Teresa, Barba, Ángel

Source: In NEFROLOGÍA November-December 2019 39(6):680-682

Effect of Lipid Restriction on Mitochondrial Free Radical Production and Oxidative DNA Damage.

Authors: SANZ, ALBERTO¹ (AUTHOR), CARO, PILAR¹ (AUTHOR), SANCHEZ, JOSE GOMEZ¹ (AUTHOR), BARJA, GUSTAVO¹ (AUTHOR)

Source: Annals of the New York Academy of Sciences. 2006, Vol. 1067 Issue 1, p200-209. 10p. 2 Charts, 1 Graph.

Subject Terms: *LIPIDS, *FREE radicals, *DNA damage, *AGING, *MITOCHONDRIA