Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Sonia Mayo"'
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 10, p 5198 (2024)
The NR4A2 gene encodes an orphan transcription factor of the steroid–thyroid hormone–retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported c
Externí odkaz:
https://doaj.org/article/01f22c8a10394aacab5c9694b1a71199
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, Vol 24, Iss 7, p 6100 (2023)
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://doaj.org/article/3a4720e3cfd34150b498f6abcd88045e
Autor:
Sonia Mayo, Irene Gómez-Manjón, Francisco Javier Fernández-Martínez, Ana Camacho, Francisco Martínez, Julián Benito-León
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 4879 (2022)
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://doaj.org/article/1bce7b2b950841f78d940f3df0f7bf3b
Autor:
Sonia Mayo, Irene Gómez-Manjón, Fco. Javier Fernández-Martínez, Ana Camacho, Francisco Martínez, Julián Benito-León
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5609 (2021)
Eyelid myoclonia with absences (EMA), also known as Jeavons syndrome (JS) is a childhood onset epileptic syndrome with manifestations involving a clinical triad of absence seizures with eyelid myoclonia (EM), photosensitivity (PS), and seizures or el
Externí odkaz:
https://doaj.org/article/b3796a6b780e453f9ea1982125ee1b4a
Autor:
Sonia Mayo, Sandra Monfort, Mónica Roselló, Carmen Orellana, Silvestre Oltra, Alfonso Caro-Llopis, Francisco Martínez
Publikováno v:
International Journal of Genomics, Vol 2017 (2017)
We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. All the genes forming these fusion transcripts may have an important role in central nervous system development and/or in gene ex
Externí odkaz:
https://doaj.org/article/eaf800628ca6449ea44e5a63153b6b79
Autor:
Perea-García, Ana, Andrés-Bordería, Amparo, de Andrés, Sonia Mayo, Sanz, Amparo, Davis, Amanda M., Davis, Seth J., Huijser, Peter, Peñarrubia, Lola
Publikováno v:
Journal of Experimental Botany, 2016 Jan 01. 67(1), 391-403.
Externí odkaz:
https://www.jstor.org/stable/26390569
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:
Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López, María de los Ángeles Gómez-Cano, Juan Francisco Quesada-Espinosa, Carmen Palma Milla, José Miguel Lezana Rosales, Sonia Mayo de Andrés, María Teresa Sánchez-Calvín, María José Gómez-Rodríguez, Olalla Sierra Tomillo, Alexandra Juarez Rufian, Patricia Ramos Gomez, Clara Herrero-Forte, Maria Fenollar-Cortés, Carmen Cotarelo-Pérez, Adrián García Ron, Olga Pérez Rodríguez, Raluca Oancea-Ionescu, Marta Moreno-García
Publikováno v:
Neuropediatrics.
Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1b289f1210577d267a2c7359c7d26a
https://pubmed.ncbi.nlm.nih.gov/36126956
https://pubmed.ncbi.nlm.nih.gov/36126956
Autor:
Sandra Monfort, Sonia Mayo
Publikováno v:
Journal of human lactation : official journal of International Lactation Consultant Association. 37(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59ebeaeee390ea45aff3de8150423404
https://pubmed.ncbi.nlm.nih.gov/33576702
https://pubmed.ncbi.nlm.nih.gov/33576702
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
