Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Fermina, López"'
Autor:
Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Publikováno v:
Anales de Pediatría, Vol 89, Iss 1, Pp 3-11 (2018)
Resumen: Fundamento y objetivo: La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación
Externí odkaz:
https://doaj.org/article/96b2da0718b8405fb1788e89fcee444a
Autor:
Neus Castells-Sarret, Anna M. Cueto-González, Mar Borregan, Fermina López-Grondona, Rosa Miró, Eduardo Tizzano, Alberto Plaja
Publikováno v:
Anales de Pediatría (English Edition), Vol 89, Iss 1, Pp 3-11 (2018)
Background and objective: Conventional cytogenetics diagnoses 3–5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnos
Externí odkaz:
https://doaj.org/article/9f076a269c284212af374c79ff0580c0
Autor:
Irene Valenzuela, Elena Guillén Benítez, Angel Sanchez‐Montanez, Javier Limeres, Fermina López‐Grondona, Ivon Cuscó, Eduardo F. Tizzano
Publikováno v:
American Journal of Medical Genetics Part A. 188:991-995
The PACS2 gene encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation that has been shown to be highly expressed during human prenatal brain development. Pathogenic variants in PACS2 have been rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95efd802a77364cf240f47a58f6d4af7
https://doi.org/10.1002/ajmg.a.62596
https://doi.org/10.1002/ajmg.a.62596
Autor:
María Antolín, Marta Codina-Solà, Teresa Vendrell, Paula Fernández-Álvarez, Ida Paramonov, Elena García-Arumí, Anna M. Cueto-González, Artur Evangelista, Irene Valenzuela, Eduardo F. Tizzano, Gisela Teixido-Tura, Fermina López-Grondona
Publikováno v:
Journal of Medical Genetics. 59:605-612
BackgroundA proportion of de novo variants in patients affected by genetic disorders, particularly those with autosomal dominant (AD) inheritance, could be the consequence of somatic mosaicism in one of the progenitors. There is growing evidence that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::06c5233e8057a01e79a1447308644436
https://doi.org/10.1136/jmedgenet-2020-107604
https://doi.org/10.1136/jmedgenet-2020-107604
Akademický článek
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Autor:
Marta Rodriguez de Alba, María Rodrigo-Moreno, Rosa Riveiro-Alvarez, Berta Almoguera, Carolina Sanchez-Jimeno, Carmen Ayuso, María Fenollar-Cortés, Fiona Blanco-Kelly, Beatriz Moreno, Elena Martinez-Cayuelas, Isabel Lorda-Sanchez, Fermina López-Grondona, Rebeca Losada-Del Pozo
Publikováno v:
Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1360, p 1360 (2021)
Volume 12
Issue 9
Genes, Vol 12, Iss 1360, p 1360 (2021)
Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disability, autistic features, and microcephaly, also known as AUTS2 syndrome. While the phenotype associated with large d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359c4edcced05df6790ed37ed2127744
http://europepmc.org/articles/PMC8471078
http://europepmc.org/articles/PMC8471078
Autor:
Mario Solís, Bardón Rivera Mb, Jair Tenorio, Salvador Climent, Pablo Lapunzina, Pablo Alarcón, Gisela Teixido-Tura, Fermina López Grondona, Victor L. Ruiz-Perez, Antonio Martinez Monseny, Juan C. Cigudosa, Mercedes Serrano, Eduardo F. Tizzano, Sara Alvarez, Irene Valenzuela, Gema Gordo, Sergio Ramos, Fernando Santos-Simarro, Fernández Jaén A, Julián Nevado, Palomares Bralo M, Sixto García-Miñaur, Irene Dapía, Jaime Campistol, Alicia Hernández, Pedro Arias, Javier Botet
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Eur J Hum Genet
instname
Eur J Hum Genet
Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic regulation, especially duri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8349a1315583359cc854dc15a3ba8a
https://doi.org/10.1038/s41431-019-0485-3
https://doi.org/10.1038/s41431-019-0485-3
Autor:
Bruno Dallapiccola, Carlos Ruggiero, Fermina López-Grondona, Domenico Barbuti, Marcello Niceta, Giuseppe Zampino, Eduardo F. Tizzano, Christiane Zweier, Emilia Stellacci, Luitgard Graul-Neumann, Paula Fernández-Álvarez, Neerja Gupta, Marco Tartaglia, Andreas Tzschach, Gen Nishimura, Chiara Leoni, Andrea Del Fattore, Irene Valenzuela, Sabina Barresi
Publikováno v:
Clinical Genetics. 97:362-369
Aymé-Gripp syndrome (AYGRPS) is a recognizable condition caused by a restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF. Major clinical features of AYGRPS include congenital cataracts, sensorineural he
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6fc22cd7da3d1e14fef570eac08c00
https://doi.org/10.1111/cge.13651
https://doi.org/10.1111/cge.13651
Autor:
Beatriz Olivia Camarena Gómez, Angel Carracedo, Beatriz Morte, María Palomares-Bralo, Patricia Arias, Carmen Ayuso, Marta Pacio-Míguez, Fernando Santos-Simarro, Jair Tenorio-Castaño, Alma Kuechler, Pedro Arias, Feliciano J. Ramos, Eduardo F Tizzano, Sergio Ramos, Fermina López-Grondona, Luis A. Pérez-Jurado, María Pilar Méndez Perez, Julián Nevado, Berta Almoguera, Francisco Barros, Enrique Galán-Gómez, Sixto García-Miñaur, Alba Alcochea, Irene Valenzuela, Victor Martinez-Glez, Frank J. Kaiser, Ivon Cuscó, I. Lorda-Sánchez, Juan Pié, Pablo Lapunzina, Juan Carrión
Publikováno v:
Genes, Vol 12, Iss 738, p 738 (2021)
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia
Genes
Volume 12
Issue 5
Biblos-e Archivo. Repositorio Institucional de la UAM
Universitat Autònoma de Barcelona
Dipòsit Digital de Documents de la UAB
Scientia
Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38bf6a6c2c7cd1876f586026d787166a
https://www.mdpi.com/2073-4425/12/5/738
https://www.mdpi.com/2073-4425/12/5/738
Autor:
Jair, Tenorio-Castaño, Beatriz, Morte, Julián, Nevado, Víctor, Martinez-Glez, Fernando, Santos-Simarro, Sixto, García-Miñaúr, María, Palomares-Bralo, Marta, Pacio-Míguez, Beatriz, Gómez, Pedro, Arias, Alba, Alcochea, Juan, Carrión, Patricia, Arias, Berta, Almoguera, Fermina, López-Grondona, Isabel, Lorda-Sanchez, Enrique, Galán-Gómez, Irene, Valenzuela, María Pilar, Méndez Perez, Ivón, Cuscó, Francisco, Barros, Juan, Pié, Sergio, Ramos, Feliciano J, Ramos, Alma, Kuechler, Eduardo, Tizzano, Carmen, Ayuso, Frank J, Kaiser, Luis A, Pérez-Jurado, Ángel, Carracedo, The ENoD-Ciberer Consortium, The Side Consortium, Pablo, Lapunzina
Publikováno v:
Genes
Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::388c52eacdb431e17081e64cb0bde6d6
https://pubmed.ncbi.nlm.nih.gov/34068396
https://pubmed.ncbi.nlm.nih.gov/34068396