نتائج البحث - "Pedrinaci, Susana"

1

دورية أكاديمية

Acceleration of the DNA methylation clock among lynch syndrome-associated mutation carriers.

المؤلفون: Cuadros, Marta, Cano, Carlos, García-Rodríguez, Sonia, Martín, José Luis, Poyatos-Andujar, Antonio, Ruiz-Cabello, Francisco, Pedrinaci, Susana, Durán, Gema, Benavides, Manuel, Bautista-Ojeda, María Dolores, Pereda, Teresa, Benitez-Cantos, María Soledad, Medina, Pedro P., Blanco, Armando, Gonzalez, Antonio, Lizardi, Paul

المساهمون: Fundación la Caixa, Fundación Progreso y Salud, Junta de Andalucía, Ministerio de Economía, Industria y Competitividad (España), European Commission, Universidad de Granada, Consejo Superior de Investigaciones Científicas https://ror.org/02gfc7t72Test

العلاقة: Publisher's version; http://dx.doi.org/10.1186/s12920-022-01183-2Test; Sí; BMC Medical Genomics 15 (2022); http://hdl.handle.net/10261/362204Test; http://dx.doi.org/10.13039/501100010198Test; http://dx.doi.org/10.13039/501100000780Test; http://dx.doi.org/10.13039/501100011011Test; http://dx.doi.org/10.13039/501100006393Test

الإتاحة: https://doi.org/10.1186/s12920-022-01183-210.13039/50110001019810.13039/50110000078010.13039/50110001101110.13039/501100006393Test
http://hdl.handle.net/10261/362204Test

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النص الكامل

2

دورية أكاديمية

Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients

المؤلفون: Pena-Couso, Laura, Ercibengoa Arana, Maria, Mercadillo, FÃ¡tima, GÃ³mez-SÃ¡nchez, David, Inglada-PÃ©rez, Lucia, Santos, Maria Lucia S.F., Lanillos, Javier, GutiÃ©rrez-Abad, David, HernÃ¡ndez, Almudena, Carbonell, Pablo, LetÃ³n, RocÃo, Robledo, Mercedes, Rodriguez-Antona, Cristina, Perea GarcÃa, JosÃ©, Urioste, Miguel, Alonso, Miguel Ãngel, AndrÃ©s, Raquel, ArÃ©valo, Sara, Arias, Maria del Mar, BalmaÃ±a GelpÃ, Judith, Beristain, Elena, Blanco Guillermo, Ignacio, Boronat, Mauro, Brunet, Joan, CÃ³zar-LeÃ³n, Victoria, del Campo Casanelles, Miguel, DÃaz, Arantza, Gabau, Elisabeth, Barcina, MarÃa JesÃºs, GonzÃ¡lez, Margarita, Guitart, Miriam, HernÃ¡n, Imma, HernÃ¡ndez, HÃ©ctor Salvador, Hernando, Susana, Lacambra, Carmen, Lasa, Adriana, Lastra, Enrique, Llort, Gemma, del Rosario MarÃn, Maria, Marrupe, David, MartÃnez, Francisco, MartÃnez, Victor, Martorell, Loreto, Orera, Maria, Pedrinaci, Susana, PÃ©rez, Pedro, Pineda, Marta, Plasencia, Ana Maria, Ramon y Cajal, Teresa, Robles, Luis, RodÃ , Diana, RodrÃguez, Nuria, Rosell Andreo, Jordi, SÃ¡ez, Raquel, Salvat, Monica, SÃ¡nchez, Antonio, Santana, Alfredo, Soto, Jose Luis, Toll, Agustin, Tuneu, Anna, VÃ¡zquez, Carlos

مصطلحات موضوعية: PTEN hamartoma tumor syndrome, Cowden syndrome, PTEN gene, NGS, Exome

وصف الملف: application/pdf

العلاقة: Ministerio de EconomÃa y Competitividad PI14/00459; Ministerio de EconomÃa y Competitividad BES-2015-071383; Orphanet Journal of Rare Diseases; Vol. 17 NÃºm. 1 (december 2022), p. 85; https://ddd.uab.cat/record/284448Test; urn:10.1186/s13023-021-02079-7; urn:oai:ddd.uab.cat:284448; urn:scopus_id:85126071653; urn:articleid:17501172v17n1p85; urn:pmid:35227301; urn:pmc-uid:8886852; urn:pmcid:PMC8886852; urn:oai:pubmedcentral.nih.gov:8886852; urn:oai:egreta.uab.cat:publications/c2cb51fd-440e-4c45-bfae-83c1c7283b09

الإتاحة: https://ddd.uab.cat/record/284448Test

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النص الكامل

3

دورية أكاديمية

Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

المؤلفون: Molina-Zayas, María, Garrido-Navas, Carmen, García-Puche, Jose Luis, Barwell, Julian, Pedrinaci, Susana, Atienza, Margarita Martínez, García-Linares, Susana, de Haro-Muñoz, Tomás, Lorente, Jose Antonio, Serrano, M Jose, Poyatos-Andújar, Antonio

مصطلحات موضوعية: BRCA1, BRCA2, Hereditary breast and ovarian cancer (HBOC), Multigene panel, NGS, Breast Neoplasms, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Mastectomy, Ovarian Neoplasms, Retrospective Studies, Spain

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/20230Test; PMC9130174; https://link.springer.com/content/pdf/10.1007/s00438-022-01891-5.pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130174/pdfTest

الإتاحة: https://doi.org/10.1007/s00438-022-01891-5Test
http://hdl.handle.net/10668/20230Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9130174/pdfTest

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4

دورية أكاديمية

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

المؤلفون: Blanco-Arias, Patricia, Medina Martínez, Inmaculada, Arrabal Fernández, Luisa, Rivas Infante, Eloy, Salmerón Fernández, Maria Jose, González Hervás, Catalina, Azcón González de Aguilar, Pilar, Armengol, Lluis, Pedrinaci, Susana, Perin, Francesca

المصدر: Neuromuscular Disorders ; volume 33, issue 7, page 557-561 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.05.008Test
https://api.elsevier.com/content/article/PII:S0960896623001451?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623001451?httpAccept=text/plainTest

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5

دورية أكاديمية

Gain-of-function mutations in DNMT3A in patients with paraganglioma.

مصطلحات موضوعية: CRISPR/Cas9 gene editing, DNMT3A, exome sequencing, hypermethylation, paraganglioma, Adrenal Gland Neoplasms, Adult, CRISPR-Cas Systems, DNA (Cytosine-5-)-Methyltransferases, DNA Methylation, DNA Methyltransferase 3A, Female, Gain of Function Mutation, Genetic Predisposition to Disease, Genotype, Germ-Line Mutation, Humans, Male, Pheochromocytoma

العلاقة: http://hdl.handle.net/10668/12435Test; https://www.nature.com/articles/s41436-018-0003-y.pdfTest

الإتاحة: https://doi.org/10.1038/s41436-018-0003-yTest
http://hdl.handle.net/10668/12435Test
https://www.nature.com/articles/s41436-018-0003-y.pdfTest

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النص الكامل

6

دورية أكاديمية

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

المؤلفون: Currás Freixes, María, Inglada, Lucía, Mancikova, Veronika, Montero Conde, Cristina, Letón, Rocío, Comino Méndez, Iñaki, Apellániz, María, Sánchez Barroso, Lara, Aguirre, Miguel, Alcázar, Victoria, Aller, Javier, Álvarez Escolá, Cristina, Andía Melero, Víctor M., Azriel, Sharona, Calatayud, María, Díaz, José Ángel, Díez Hernández, Alberto, Marazuela, Mónica, Matías Guiu, Xavier, Meoro, Amparo, Patiño, Ana, Pedrinaci, Susana, Riesco, Garcilaso, Sábado, Constantino, Sáez Villaverde, Raquel, Sainz de los Terrenos, Amaya, Sanz Guadarrama, Óscar, Sastre, Julia, Scolá, Bartolomé, Segura Huerta, Ángel, Serrano Corredor, María de la Soledad, Villar, María Rosa, Rodríguez Antona, Cristina, Korpershoek, Esther, Cascón, Alberto, Robledo, Mercedes, Lamas Oliveira, Cristina

وصف الملف: application/pdf

العلاقة: Currás-Freixes, M., Inglada-Pérez, L., Mancikova, V., Montero-Conde, C., Letón, R., Comino-Méndez, I., . & Robledo, M. (2015). Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. Journal of medical genetics, 52(10), 647-656. https://doi.org/10.1136/jmedgenet-2015-103218Test; https://hdl.handle.net/10578/33330Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103218Test
https://hdl.handle.net/10578/33330Test

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