Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Irene Gómez-Manjón"'
Autor:
Sonia Mayo, Irene Gómez-Manjón, Gabriela Atencia, Ana Moreno-Izquierdo, David Escribano, Fco. Javier Fernández-Martínez
Publikováno v:
European Journal of Obstetrics & Gynecology and Reproductive Biology. 272:150-155
Non-invasive prenatal testing (NIPT) is currently the best screening test for fetal chromosome abnormalities with the highest sensitivity and specificity and can be done from 10 weeks gestation. We report a detection of 44.7 Mb duplication at 11p15.5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad737c2f04e44ba150b792576ec2cb6d
https://doi.org/10.1016/j.ejogrb.2022.03.027
https://doi.org/10.1016/j.ejogrb.2022.03.027
Autor:
Sonia Mayo, Irene Gómez-Manjón, Ana Victoria Marco-Hernández, Francisco Javier Fernández-Martínez, Ana Camacho, Francisco Martínez
Publikováno v:
International Journal of Molecular Sciences. 24:6100
N-type voltage-gated calcium channel controls the release of neurotransmitters from neurons. The association of other voltage-gated calcium channels with epilepsy is well-known. The association of N-type voltage-gated calcium channels and pain has al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a374ef97cb88f5d1c836503983c3b528
https://doi.org/10.3390/ijms24076100
https://doi.org/10.3390/ijms24076100
Autor:
María Teresa Sánchez Calvín, José Miguel Lezana Rosales, Antonio Mendez-Guerrero, Irene Gómez Manjón, María José Gómez Rodríguez, Marta Moreno-García, Alberto Villarejo-Galende, Maria Isabel Alvarez-Mora, Juan Francisco Quesada Espinosa, Ana Arteche-López, Carmen Palma Milla
Publikováno v:
American Journal of Medical Genetics Part A. 185:591-595
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3c49380f8d6bf0ba7a675bd70ef3100
https://doi.org/10.1002/ajmg.a.61999
https://doi.org/10.1002/ajmg.a.61999
Autor:
Sonia Mayo, Irene Gómez-Manjón, Francisco Javier Fernández-Martínez, Ana Camacho, Francisco Martínez, Julián Benito-León
Publikováno v:
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
E-Prints Complutense. Archivo Institucional de la UCM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
E-Prints Complutense. Archivo Institucional de la UCM
Epilepsy is a neurological disorder that affects more than 50 million people. Its etiology is unknown in approximately 60% of cases, although the existence of a genetic factor is estimated in about 75% of these individuals. Hundreds of genes involved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::933a09e651481b3a3a018aaef870e94b
https://pubmed.ncbi.nlm.nih.gov/35563270
https://pubmed.ncbi.nlm.nih.gov/35563270
Autor:
Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López, Maria Teresa Sánchez-Calvín, Juan Francisco Quesada-Espinosa, Irene Gómez-Manjón, Carmen Palma-Milla, Jose Miguel Lezana-Rosales, Ruben Pérez de la Fuente, Maria-Luisa Martin-Ramos, Manuela Fernández-Guijarro, Marta Moreno-García, Maria Isabel Alvarez-Mora
Publikováno v:
Genes. 13:1609
Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. Size and methylation mosaicisms are commonly observed in FXS patients. Both types of mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3efd01202f51828b24e06894e418439
https://doi.org/10.3390/genes13091609
https://doi.org/10.3390/genes13091609
Autor:
Jaime Sard Sánchez, Marta Moreno-García, Isabel Álvarez-Mora, Irene Gómez-Manjón, Jaime Cruz, M. Teresa Sánchez, Carmen Palma, Ana Arteche-López, Juan F. Quesada, Sara Vila, Pérez Mohand Patricia, José M. Lezana, Maria José Gómez-Rodríguez
Publikováno v:
Journal of Pediatric Genetics.
Meningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5bf0b41c71f02b51cd9e997bd9b798f5
https://doi.org/10.1055/s-0041-1728650
https://doi.org/10.1055/s-0041-1728650
Autor:
Jaime Cruz-Rojo, Ollalla Sierra-Tomillo, Marta Moreno-García, Rubén Pérez de la Fuente, Laura Rausell-Sánchez, Jesus Gallego-Merlo, Alexandra Juárez-Rufián, José Miguel Lezana-Rosales, Irene Gómez-Manjón, Ana Bustamante-Aragones, María Teresa Sánchez-Calvín, Patricia Ramos-Gómez, A. Camacho-Salas, J. Pozo, Montserrat Morales-Conejo, Lucía Garzón-Lorenzo, Rogelio Simón de las Heras, Maria Isabel Alvarez-Mora, Irene Lázaro-Rodríguez, Juan Francisco Quesada-Espinosa, Irene Hidalgo-Mayoral, María A. Gomez-Cano, Ana Arteche-López, Carmen Palma-Milla, N. Núñez-Enamorado, Maria José Gómez-Rodríguez
Publikováno v:
Neurogenetics. 22(4)
Allan-Herndon-Dudley is an X-linked recessive syndrome caused by pathogenic variants in the SLC16A2 gene. Clinical manifestations are a consequence of impaired thyroid metabolism and aberrant transport of thyroid hormones to the brain. Carrier female
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6307c1108292acf0151db700ceebe5e
https://pubmed.ncbi.nlm.nih.gov/34296368
https://pubmed.ncbi.nlm.nih.gov/34296368
Autor:
Ana María Camacho, Olalla Sierra Tomillo, Belén Gil-Fournier, Rogelio Simón, Alejandro Segura-Tudela, Juan Francisco Quesada-Espinosa, Maria Isabel Arranz Cano, Arancha Díaz de Bustamante, José Miguel Lezana Rosales, Pablo Morales-Pérez, Noemí Núñez, Rubén Pérez de la Fuente, Soraya Ramiro León, María Teresa Darnaude, Maria Isabel Alvarez-Mora, María José Gómez Rodríguez, Rebeca Villares Alonso, Carmen Palma Milla, Patricia Ramos Gómez, M. Moreno-García, Alexandra Juárez Rufián, Ana Arteche-López, Irene Hidalgo Mayoral, Irene Gómez-Manjón, María Teresa Sánchez Calvín
Publikováno v:
Genes, Vol 12, Iss 560, p 560 (2021)
Genes
Volume 12
Issue 4
Genes
Volume 12
Issue 4
Autism spectrum disorder (ASD) is a prevalent and extremely heterogeneous neurodevelopmental disorder (NDD) with a strong genetic component. In recent years, the clinical relevance of de novo mutations to the aetiology of ASD has been demonstrated. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92756aa87cedeef077669e06ab0e6b63
https://www.mdpi.com/2073-4425/12/4/560
https://www.mdpi.com/2073-4425/12/4/560
Autor:
F. Javier Fernández-Martínez, David Escribano, Aitor Delmiro, Marta Moreno-García, Sonia Mayo, Ana Moreno-Izquierdo, Irene Gómez-Manjón
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1738de9fdbd0eff3d7c457ec739b712
https://doi.org/10.37247/pabs.2.2021.3
https://doi.org/10.37247/pabs.2.2021.3
Autor:
Ana Arteche-López, María Teresa Sánchez Calvín, Rubén Pérez de la Fuente, Juan Francisco Quesada Espinosa, Carmen Palma Milla, Marta Moreno Garcia, Maria Isabel Alvarez-Mora, Diego Tuñon Le Poultel, José Miguel Lezana Rosales, Emma Soengas Gonda, María José Gómez Rodríguez, Irene Gómez Manjón
Publikováno v:
Revista de Medicina de Laboratorio.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f020dcd4fa273b8e590ad7047cad8177
https://doi.org/10.20960/revmedlab.00077
https://doi.org/10.20960/revmedlab.00077