المؤلفون: Abulí, Anna, Antolín, Eugenia, Borrell, Antoni, Garcia-Hoyos, Maria, García Santiago, Fe, Gómez Manjón, Irene, Maíz, Nerea, González González, Cristina, Rodríguez-Revenga, Laia, Valenzuena Palafoll, Irene, Suela, Javier

مصطلحات موضوعية: Clinical guidelines

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/61/8/727; http://dx.doi.org/10.1136/jmg-2024-109878

الاتاحة: http://jmg.bmj.com/cgi/content/short/61/8/727
https://doi.org/10.1136/jmg-2024-109878

المؤلفون: Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: autistic behavior, 22q13 deletion syndrome, Phelan-McDermid syndrome (PMS), SHANK3, subtelomeric deletion syndrome, intellectual disabilities (ID), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57

المؤلفون: Sáenz-Rico De Santiago, María Belén, Julian Nevado Blanco, Katalin Komlosi, Medical Center – University of Freiburg, Germany, Nevado, Julian, Bel Fenellos, María Cristina, Sandoval-Talamantes, Ana Karen, Hernández Estrada, Adolfo, Biencinto López, Chantal-María, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Martínez-Frías, María Luisa, Lapunzina, Pablo

مصطلحات الفهرس: 37.013, 37.012, 616-053.2, 159.922, 612.65-053.2, 5p-minus syndrome, Intellectual disabilities, Cri du chat, Subtelomeric deletion, Behavior problems, Ciencias Biomédicas, Ciencias Sociales, Métodos de investigación en educación, 61 Psicología, 58 Pedagogía, 32 Ciencias Médicas, journal article, AM

URL: https://hdl.handle.net/20.500.14352/100143
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.645595/full
https://produccioncientifica.ucm.es/documentos/6120cd3ec9cf785bac8ddf5d
https://scholar.google.com/scholar_lookup?title=Deep+Phenotyping+and+Genetic+Characterization+of+a+Cohort+of+70+Individuals+With+5p+Minus+Syndrome&author=Nevado%2C+J.&author=Bel-Fenell%C3%B3s%2C+C.&author=Sandoval-Talamantes%2C+A.K.&author=Hern%C3%A1ndez%2C+A.&author=Biencinto-L%C3%B3pez%2C+C.&author=Mart%C3%ADnez-Fern%C3%A1ndez%2C+M.L.&author=Barr%C3%BAz%2C+P.&author=Santos-Simarro%2C+F.&author=Mori-%C3%81lvarez%2C+M.%C3%81.&author=Mansilla%2C+E.&author=Garc%C3%ADa-Santiago%2C+F.A.&author=Valcorba%2C+I.&author=S%C3%A1enz-Rico%2C+B.&author=Mart%C3%ADnez-Fr%C3%ADas%2C+M.L.&author=Lapunzina%2C+P.&publication_year=2021&journal=Frontiers+in+Genetics&volume=12&issue=&doi=10.3389/FGENE.2021.645595&issn=1664-8021&hl=es

المؤلفون: Tenorio‐Castano, Jair, Mansilla Aparicio, Elena, García Santiago, Fe Amalia, Klotz, Cherise M., Regojo, Rita María, Anguita, Estefanía, Ryan, Erin, Juusola, Jane, Herrero, Beatriz, Arias, Pedro, Parra, Alejandro, Pascual, Patricia, Gallego, Natalia, Cazalla, Mario, Rodriguez‐González, Roberto, Antolín, Eugenia, Nevado, Julián, Ruiz‐Perez, Víctor L., Lapunzina, Pablo

المساهمون: Instituto de Salud Carlos III

المصدر: Clinical Genetics ; volume 106, issue 6, page 713-720 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14601
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14601

المؤلفون: Villafuerte, Beatriz, Carrasco-López, Carlos, Herranz, Amanda, Garzón, Lucía, Simón, Rogelio, Natera-de-Benito, Daniel, Alikhani, Pouya, Tenorio, Jair, García-Santiago, Fe, Solis, Mario, del-Pozo, Ángela, Lapunzina, Pablo, Ortigoza-Escobar, Juan Darío, Santisteban, Pilar, Moreno, José C.

المصدر: Thyroid® ; volume 34, issue 7, page 942-948 ; ISSN 1050-7256 1557-9077

الاتاحة: http://dx.doi.org/10.1089/thy.2023.0593
https://www.liebertpub.com/doi/full-xml/10.1089/thy.2023.0593
https://www.liebertpub.com/doi/pdf/10.1089/thy.2023.0593

المؤلفون: Nevado, Julian, Bel Fenellos, María Cristina, Sandoval-Talamantes, Ana Karen, Hernández Estrada, Adolfo, Biencinto López, Chantal-María, Martínez-Fernández, María Luisa, Barrúz, Pilar, Santos-Simarro, Fernando, Mori-Álvarez, María Ángeles, Mansilla, Elena, García-Santiago, Fé Amalia, Valcorba, Isabel, Sáenz-Rico De Santiago, María Belén, Martínez-Frías, María Luisa, Lapunzina, Pablo

المساهمون: Sáenz-Rico De Santiago, María Belén, Julian Nevado Blanco, Katalin Komlosi, Medical Center – University of Freiburg, Germany

مصطلحات موضوعية: 37.013, 37.012, 616-053.2, 159.922, 612.65-053.2, 5p-minus syndrome, Intellectual disabilities, Cri du chat, Subtelomeric deletion, Behavior problems, Ciencias Biomédicas, Ciencias Sociales, Métodos de investigación en educación, 61 Psicología, 58 Pedagogía, 32 Ciencias Médicas

وصف الملف: application/pdf

Relation: https://hdl.handle.net/20.500.14352/100143; Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, Hernández A, Biencinto-López C, Martínez-Fernández ML, Barrúz P, Santos-Simarro F, Mori-Álvarez MÁ, Mansilla E, García-Santiago FA, Valcorba I, Sáenz-Rico B, Martínez-Frías ML and Lapunzina P. (2021). Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome. Front. Genet. 12(645595). doi:10.3389/fgene.2021.645595; https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.645595/full; https://produccioncientifica.ucm.es/documentos/6120cd3ec9cf785bac8ddf5d; https://scholar.google.com/scholar_lookup?title=Deep+Phenotyping+and+Genetic+Characterization+of+a+Cohort+of+70+Individuals+With+5p+Minus+Syndrome&author=Nevado,+J.&author=Bel-Fenell%C3%B3s,+C.&author=Sandoval-Talamantes,+A.K.&author=Hern%C3%A1ndez,+A.&author=Biencinto-L%C3%B3pez,+C.&author=Mart%C3%ADnez-Fern%C3%A1ndez,+M.L.&author=Barr%C3%BAz,+P.&author=Santos-Simarro,+F.&author=Mori-%C3%81lvarez,+M.%C3%81.&author=Mansilla,+E.&author=Garc%C3%ADa-Santiago,+F.A.&author=Valcorba,+I.&author=S%C3%A1enz-Rico,+B.&author=Mart%C3%ADnez-Fr%C3%ADas,+M.L.&author=Lapunzina,+P.&publication_year=2021&journal=Frontiers+in+Genetics&volume=12&issue=&doi=10.3389/FGENE.2021.645595&issn=1664-8021&hl=es

الاتاحة: https://hdl.handle.net/20.500.14352/100143
https://doi.org/10.3389/fgene.2021.645595
https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.645595/full
https://produccioncientifica.ucm.es/documentos/6120cd3ec9cf785bac8ddf5d
https://scholar.google.com/scholar_lookup?title=Deep+Phenotyping+and+Genetic+Characterization+of+a+Cohort+of+70+Individuals+With+5p+Minus+Syndrome&author=Nevado,+J.&author=Bel-Fenell%C3%B3s,+C.&author=Sandoval-Talamantes,+A.K.&author=Hern%C3%A1ndez,+A.&author=Biencinto-L%C3%B3pez,+C.&author=Mart%C3%ADnez-Fern%C3%A1ndez,+M.L.&author=Barr%C3%BAz,+P.&author=Santos-Simarro,+F.&author=Mori-%C3%81lvarez,+M.%C3%81.&author=Mansilla,+E.&author=Garc%C3%ADa-Santiago,+F.A.&author=Valcorba,+I.&author=S%C3%A1enz-Rico,+B.&author=Mart%C3%ADnez-Fr%C3%ADas,+M.L.&author=Lapunzina,+P.&publication_year=2021&journal=Frontiers+in+Genetics&volume=12&issue=&doi=10.3389/FGENE.2021.645595&issn=1664-8021&hl=es

المؤلفون: García‐Santiago, Fe Amalia, Martínez‐Payo, Cristina, Mansilla, Elena, Santos‐Simarro, Fernando, Ruiz de Azua Ballesteros, Miguel, Mori, María Ángeles, Antolín Alvarado, Eugenia, Nieto, Yolanda, Vallcorba, Isabel, Tenorio, Jair, Nevado, Julián, Lapunzina, Pablo

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 5 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.1649
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1649
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1649

المؤلفون: Martínez-Payo, Cristina, García-Santiago, Fe Amalia, Heath, Karen E., Gavin, Eduardo, Mansilla-Aparicio, Elena

المصدر: Molecular Syndromology ; volume 12, issue 1, page 41-45 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000512304
https://www.karger.com/Article/Pdf/512304

المؤلفون: Delicado, Alicia, Fernández, Luis, Torres, María Luisa de, Nevado, Julián, García-Santiago, Fe Amalia, Rodríguez, Roberto, Mansilla, Elena, Palomares, María, Santos-Simarro, Fernando, Vallespín, Elena, Mori, María Ángeles, Lapunzina, Pablo

مصطلحات موضوعية: 16p13.11 duplication, Gene dosage compensation, Homologous balanced rearrangement, Mitotic NAHR, Medicina

وصف الملف: application/pdf

Relation: BMC Medical Genetics; http://www.biomedcentral.com/1471-2350/15/116; Comunidad de Madrid. S2010/BMD-2396/ENDOSCREEN; BMC Medical Genetics 15.116 (2014): 1-6; http://hdl.handle.net/10486/667278; 116; 15

الاتاحة: http://hdl.handle.net/10486/667278
https://doi.org/10.1186/s12881-014-0116-3

المؤلفون: Nevado Blanco, Julián, Mergener, Rafaella, Palomares-Bralo, María, Souza, Karen Regina Silva de, Vallespín García, Elena, Mena, Rocío, Martínez-Glez, Víctor, Palomino, María Ángeles, Santos Simarro, Fernando, García Miñaur, Sixto, García Santiago, Fé Amalia, Mansilla Aparicio, Elena, Fernández García-Moya, Luis, Torres Pérez Hidalgo, María Luisa de, Mariluce Riegel, Mariluce Riegel, Lapunzina Badía, Pablo D.

مصطلحات موضوعية: Duplicação cromossômica, Deleção cromossômica, Rearranjo gênico, Microdeletion, Microduplication, Chromosome rearrangement, Novel deletions, Novel duplications

وصف الملف: application/pdf

Relation: Genetics and molecular biology. Ribeirão Preto, SP. Vol. 37, no. 1, suppl. 1 (2014), p. 210-219.; http://hdl.handle.net/10183/116917; 000942469

الاتاحة: http://hdl.handle.net/10183/116917

المؤلفون: Armengol i Dulcet, Lluís, Nevado, Julián, Serra Juhé, Clara, 1984-, Mediano, Carmen, García Santiago, Fe Amalia, García Aragonés, Manel, Villa Marcos, Olaya, Mansilla, Elena, Preciado, Cristina, Fernández, Luis, Mori, María Ángeles, García Pérez, Lidia, Lapunzina, Pablo Daniel, Pérez Jurado, Luis Alberto

مصطلحات موضوعية: Diagnòstic prenatal, Oligonucleòtids

وصف الملف: application/pdf

Relation: Human genetics. 2012;131(3):513-23; http://hdl.handle.net/10230/25360

الاتاحة: http://hdl.handle.net/10230/25360
https://doi.org/10.1007/s00439-011-1095-5

المؤلفون: García‐Santiago, Fe Amalia, Martínez‐Glez, Víctor, Santos, Fernando, García‐Miñaur, Sixto, Mansilla, Elena, Meneses, Antonio González, Rosell, Jordi, Granero, Ángeles Pérez, Vallespín, Elena, Fernández, Luis, Sierra, Blanca, Oliver‐Bonet, María, Palomares, María, de Torres, María Luisa, Mori, María Ángeles, Nevado, Julián, Heath, Karen E., Delicado, Alicia, Lapunzina, Pablo

المصدر: American Journal of Medical Genetics Part A ; volume 167, issue 5, page 1018-1025 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.36879
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.36879
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.36879

المؤلفون: Tenorio, Jair, Mansilla, Alicia, Martinez-Glez, Victor, Romanelli, Valeria, Arias, Pedro, Castrejon, Nerea, Poletta, Fernando, Guillen-Navarro, -, Gordo, Gema, Mansilla, Elena, Garcia-Santiago, Fe, Gonzalez-Casado, Isabel, Vallespin, Elena, Palomares, Maria, Mori, Maria A, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Fernandez, Luis, Mena, Rocio, Benito-Sanz, Rocio, del Pozo, Angela, Silla, Juan Carlos, Ibanez, Kristina, Lopez-Granados, Eduardo, Martin-Trujillo, Alex

المصدر: Human mutation, Hoboken : John Wiley & Sons, Inc, 2014, vol. 35, no. 12, p. 1436-1441 ; ISSN 1059-7794

مصطلحات موضوعية: Overgrowth, Macrocephaly, Autoimmune disorder, Intellectual disability, RNF125

Relation: http://vu.lvb.lt/VU:ELABAPDB8250578&prefLang=en_US

الاتاحة: http://vu.lvb.lt/VU:ELABAPDB8250578&prefLang=en_US

المؤلفون: Vallespín, Elena, Palomares Bralo, María, Mori, M. Ángeles, Martín, Rubén, García‐Miñaúr, Sixto, Fernández, Luis, de Torres, M. Luisa, García‐Santiago, Fe, Mansilla, Elena, Santos, Fernando, M‐Montaño, Victoria E., Crespo, M. Carmen, Martín, Sol, Martínez‐Glez, Victor, Delicado, Alicia, Lapunzina, Pablo, Nevado, Julián

المصدر: American Journal of Medical Genetics Part A ; volume 161, issue 8, page 1950-1960 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.35960
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.35960
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.35960

المؤلفون: Mori, María de los Ángeles, Mansilla, Elena, García-Santiago, Fe, Vallespín, Elena, Palomares, María, Martín, Rubén, Rodríguez, Roberto, Martínez-Payo, Cristina, Gil-Fournier, Belén, Ramiro, Soraya, Lapunzina, Pablo, Nevado, Julián

المصدر: Diagnóstico Prenatal ; volume 23, issue 2, page 34-48 ; ISSN 2173-4127

الاتاحة: http://dx.doi.org/10.1016/j.diapre.2012.02.003
https://api.elsevier.com/content/article/PII:S2173412712000339?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2173412712000339?httpAccept=text/plain

المؤلفون: Nevado, Julián, de Torres, M. Luisa, Fernández, Luis, Mori, M. Ángeles, Villa, Amelia, Palomares, María, García‐Santiago, Fe, Mansilla, Elena, García‐Miñaur, Sixto, Delicado, Alicia, Lapunzina, Pablo

المصدر: American Journal of Medical Genetics Part A ; volume 149A, issue 7, page 1561-1564 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.32892
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.32892
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.32892

المؤلفون: Tenorio, Jair, Mansilla, Alicia, Valencia, María, Martínez Glez, Víctor, Romanelli, Valeria, Arias, Pedro, Castrejón, Nerea, Poletta, Fernando Adrián, Guillén Navarro, Encarna, Gordo, Gema, Mansilla, Elena, García Santiago, Fé, González Casado, Isabel, Vallespín, Elena, Palomares, María, Mori, María A., Santos Simarro, Fernando, García Miñaur, Sixto, Fernández, Luis, Mena, Rocío, Benito Sanz, Sara, del Pozo, Ángela, Silla, Juan Carlos, Ibañez, Kristina, López Granados, Eduardo, Martín Trujillo, Alex, Montaner, David, The SOGRI Consortium, Heath, Karen E, Campos Barros, Ángel, Dopazo, Joaquín, Nevado, Julián, Monk, David, Ruiz Pérez, Víctor, Lapunzina, Pablo

مصطلحات موضوعية: Overgrowth, Macrocephaly, Autoimmune Disorder, Rnf125, Intellectual Disability, https://purl.org/becyt/ford/3.1, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11336/35938; Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez Glez, Víctor; Romanelli, Valeria; et al.; A New Overgrowth Syndrome is due to Mutations in RNF125; Wiley-liss, Div John Wiley & Sons Inc; Human Mutation; 35; 12; 9-2014; 1436-1441; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/35938