نتائج البحث - "Ruiz-Pérez, Victor L."

1

دورية أكاديمية

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

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

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2

دورية أكاديمية

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

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

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النص الكامل

3

دورية أكاديمية

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

المصدر: 1098-3600 ; Genetics in medicine

مصطلحات موضوعية: Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000933394500007

الإتاحة: https://doi.org/10.1016/J.GIM.2022.09.002Test
https://hdl.handle.net/10067/1953630151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:17026Test

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4

دورية أكاديمية

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

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/

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5

دورية أكاديمية

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

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

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6

دورية أكاديمية

Blocking chondrocyte hypertrophy in conditional Evc knockout mice does not modify cartilage damage in osteoarthritis

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

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7

دورية أكاديمية

A PKA inhibitor motif within SMOOTHENED controls Hedgehog signal transduction

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

جغرافية الموضوع: 990 - 999

وصف الملف: application/pdf

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

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

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8

دورية أكاديمية

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

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

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