المؤلفون: Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry

مصطلحات موضوعية: Neurogenetics

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/60/8/791Test; http://dx.doi.org/10.1136/jmg-2022-108566Test

الإتاحة: https://doi.org/10.1136/jmg-2022-108566Test
http://jmg.bmj.com/cgi/content/short/60/8/791Test

المؤلفون: Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., Garcia-Gonzalo, Francesc R.

المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España)

مصطلحات موضوعية: Ellis van Creveld syndrome, Weyers acrofacial dysostosis, Ciliopathy, Cilia, Hedgehog signaling, Ubiquitin, SUMO, Interactome

وصف الملف: application/pdf

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2019-104941RB-I00/ES/SINTONIZANDO LA ANTENA CELULAR: MECANISMOS MOLECULARES DE CONTROL DE LA COMPOSICION DE CILIOS PRIMARIOS/; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2019-105620RB-I00/ES/AVANCES EN EL CONOCIMIENTO DE LAS BASES GENETICAS Y MOLECULARES DE ENFERMEDADES RARAS ASOCIADAS A DEFECTOS CONGENITOS/; Publisher's version; https://doi.org/10.3389/fcell.2023.1190258Test; Sí; Frontiers in Cell and Developmental Biology 11: 1190258 (2023); http://hdl.handle.net/10261/349551Test; http://dx.doi.org/10.13039/501100011033Test

الإتاحة: https://doi.org/10.3389/fcell.2023.1190258Test
https://doi.org/10.13039/501100011033Test
http://hdl.handle.net/10261/349551Test

المؤلفون: Altunoglu, Umut, Palencia-Campos, Adrian, Güneş, Nilay, Turgut, Gozde Tutku, Nevado, Julian, Lapunzina, Pablo, Valencia, Maria, Iturrate, Asier, Otaify, Ghada, Elhossini, Rasha, Ashour, Adel, K. Amin, Asmaa, Elnahas, Rania F, Fernandez-Nuñez, Elisa, Flores, Carmen-Lisset, Arias, Pedro, Tenorio, Jair, Chamorro Fernández, Carlos Israel, Güven, Yeliz, Özsu, Elif, Eklioğlu, Beray Selver, Ibarra-Ramirez, Marisol, Diness, Birgitte Rode, Burnyte, Birute, Ajmi, Houda, Yüksel, Zafer, Yıldırım, Ruken, Ünal, Edip, Abdalla, Ebtesam, Aglan, Mona, Kayserili, Hulya, Tuysuz, Beyhan, Ruiz-Pérez, Victor

المساهمون: FEDER funds through ISCIII, Spanish Ministry of Economy and Competitiveness

المصدر: Journal of Medical Genetics ; volume 61, issue 7, page 633-644 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2023-109546Test

المؤلفون: Cospain, Auriane, Rivera-Barahona, Ana, Dumontet, Erwan, Gener, Blanca, Bailleul-Forestier, Isabelle, Meyts, Isabelle, Jouret, Guillaume, Isidor, Bertrand, Brewer, Carole, Wuyts, Wim, Moens, Leen, Delafontaine, Selket, Keung Lam, Wayne Wing, van den Bogaert, Kris, Boogaerts, Anneleen, Scalais, Emmanuel, Besnard, Thomas, Cogne, Benjamin, Guissard, Christophe, Rollier, Paul, Carre, Wilfrid, Bouvet, Regis, Tarte, Karin, Gómez-Carmona, Ricardo, Lapunzina, Pablo, Odent, Sylvie, Faoucher, Marie, Dubourg, Christele, Ruiz-Pérez, Víctor, Devriendt, Koen, Pasquier, Laurent, Pérez-Jurado, Luis

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Centre de référence Maladies Rares CLAD-Ouest Rennes, Universidad Autónoma de Madrid (UAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Department of Microbiology, Immunology and Transplantation Leuven, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven Leuven, Laboratoire National de Santé Luxembourg (LNS), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut du Thorax Nantes, Antwerp University Hospital Edegem (UZA), Centre Hospitalier de Luxembourg Luxembourg (CHL), Geroscience and rejuvenation research center (RESTORE), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Microenvironment and B-cells: Immunopathology,Cell Differentiation, and Cancer (MOBIDIC), Université de Rennes (UR)-Etablissement français du sang Rennes (EFS Bretagne)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Universitat Pompeu Fabra Barcelona (UPF), Research reported in this publication was supported by the CatalonianDepartment of Health (URDCAT: Grant SLT002/16/00174) and the ENoD Programme of CIBERER(ER16P08), Instituto de Salud Carlos III. Selket Delafontaine is supported by the personal FWO Grant11F4421N. Isabelle Meyts is a Senior Clinical Investigator at the Research Foundation – Flanders, andis supported by the CSL Behring Chair of Primary Immunodeficiencies, by the KU Leuven C1 GrantC16/18/007, by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N and G0E8420N and bythe Jeffrey Modell Foundation. Part of this work was supported by a grant from the Spanish Ministryof Science and Innovation (PID2019-105620RB-I00/AEI/10.13039/501100011033). The project hasalso received funding from the European Research Council (ERC) under the European Union’s Horizon2020 research and innovation programme (grant agreement No. 948959). This work is supported byERN-RITA.LAPJ is founding partner and scientific advisor of qGenomics Laboratories. The remaining authorsdeclare no potential conflict of interest.

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, FOSL2 FRA-2 aplasia cutis congenita of scalp enamel hypoplasia AP-1 complex Adams-Oliver syndrome, FRA-2, MESH: Humans, MESH: Scalp, MESH: Autism Spectrum Disorder, MESH: HEK293 Cells, MESH: Transcription Factor AP-1, MESH: Exons, MESH: Ectodermal Dysplasia, MESH: Neurodevelopmental Disorders, MESH: RNA, Messenger, MESH: Fos-Related Antigen-2, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36197437; hal-03954791; https://univ-rennes.hal.science/hal-03954791Test; https://univ-rennes.hal.science/hal-03954791/documentTest; https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdfTest; PUBMED: 36197437

الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://univ-rennes.hal.science/hal-03954791Test
https://univ-rennes.hal.science/hal-03954791/documentTest
https://univ-rennes.hal.science/hal-03954791/file/Cospain%20et%20al%20-%202022%20-%20FOSL2%20truncating%20variants%20in%20the%20last%20exon.pdfTest

المؤلفون: Maroofian, Reza, Efthymiou, Stephanie, Suri, Mohnish, Rahman, Fatima, Zaki, Maha S, Maqbool, Shazia, Anwa, Najwa, Ruiz-Pérez, Victor L, Yanovsky-Dagan, Shira, Elpeleg, Orly, Sudhakar, Sniya, Mankad, Kshitij, Harel, Tamar, Houlden, Henry

المصدر: Journal of Medical Genetics (2022) (In press).

مصطلحات موضوعية: Genetic Variation, Genotype, High-Throughput Nucleotide Sequencing, Phenotype

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10162487/1/jmg-2022-108566.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10162487Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10162487/1/jmg-2022-108566.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10162487Test/

المؤلفون: Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millán, José M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela

المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto, Sanz, Pascual, Rubio, Vicente, Llácer, José L.

مصطلحات موضوعية: Genetics, New therapeutic approaches, Novel genes, Rare diseases, Research network

العلاقة: Publisher's version; https://dx.doi.org/10.1111/cge.14113Test; Sí; Clinical Genetics 101(5-6):481-493 (2022); http://hdl.handle.net/10261/270407Test; http://dx.doi.org/10.13039/501100004837Test; http://dx.doi.org/10.13039/501100004587Test

الإتاحة: https://doi.org/10.1111/cge.14113Test
https://doi.org/10.13039/501100004837Test
https://doi.org/10.13039/501100004587Test
http://hdl.handle.net/10261/270407Test

المؤلفون: Lamuedra, Ana, Gratal, Paula, Calatrava-Ferreras, Lucia, Ruiz-Pérez, Victor L., Palencia-Campos, Adrián, Portal-Núñez, Sergio, Mediero, Aranzazu, Herrero-Beaumont, Gabriel, Largo, Raquel

المساهمون: Instituto de Salud Carlos III, European Commission, Ministerio de Economía y Competitividad (España), Fundación Conchita Rábago de Jiménez Díaz

مصطلحات موضوعية: Cartilage, Chondrocyte hypertrophy, Ellis-van Creveld, Hedgehog, Osteoarthritis

وصف الملف: application/pdf

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/MINECO//SAF2013-43365-R/ES/NUEVAS PERSPECTIVAS EN LAS BASES MOLECULARES Y LOS MECANISMOS FISIOPATOLOGICOS DEL SINDROME DE ELLIS-VAN CREVELD Y OSTEOGENESIS IMPERFECTA/; info:eu-repo/grantAgreement/MINECO//SAF2016-75434-R; Publisher's version; http://dx.doi.org/10.1096/fj.202101791RRTest; Sí; e-issn: 1530-6860; FASEB Journal 36(4): e22258 (2022); http://hdl.handle.net/10261/283515Test; http://dx.doi.org/10.13039/501100003329Test; http://dx.doi.org/10.13039/501100004587Test; http://dx.doi.org/10.13039/501100000780Test

الإتاحة: https://doi.org/10.1096/fj.202101791RRTest
https://doi.org/10.13039/501100003329Test
https://doi.org/10.13039/501100004587Test
https://doi.org/10.13039/501100000780Test
http://hdl.handle.net/10261/283515Test

المؤلفون: Happ, John T, Arveseth, Corvin D, Bruystens, Jessica, Bertinetti, Daniela, Nelson, Isaac B, Olivieri, Cristina, Zhang, Jingyi, Hedeen, Danielle S, Zhu, Ju-Fen, Capener, Jacob L, Bröckel, Jan W, Vu, Lily, King, CC, Ruiz-Perez, Victor L, Ge, Xuecai, Veglia, Gianluigi, Herberg, Friedrich W, Taylor, Susan S, Myers, Benjamin R

المصدر: Nature Structural & Molecular Biology, vol 29, iss 10

مصطلحات موضوعية: Brain Cancer, Rare Diseases, Brain Disorders, Cancer, 1.1 Normal biological development and functioning, Underpinning research, Antineoplastic Agents, Cyclic AMP-Dependent Protein Kinases, Drosophila Proteins, Hedgehog Proteins, Intracellular Signaling Peptides and Proteins, Receptors, G-Protein-Coupled, Signal Transduction, Smoothened Receptor, Transcription Factors, Chemical Sciences, Biological Sciences, Medical and Health Sciences, Biophysics, Developmental Biology

جغرافية الموضوع: 990 - 999

وصف الملف: application/pdf

العلاقة: qt8kv3c9rm; https://escholarship.org/uc/item/8kv3c9rmTest

الإتاحة: https://escholarship.org/uc/item/8kv3c9rmTest

المؤلفون: Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.

المساهمون: National Human Genome Research Institute, National Institute of Mental Health, National Cancer Institute, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, Gobierno de España Ministerio de Ciencia e Innovación, National Institutes of Health, Ministerio de Ciencia e Innovación, National Heart, Lung, and Blood Institute

المصدر: The American Journal of Human Genetics ; volume 109, issue 10, page 1828-1849 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.08.009Test
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/plainTest

المؤلفون: Ruiz Pérez, Víctor Luis

الوصول الحر: http://hdl.handle.net/10201/34220Test