Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Laura Hernández Sánchez"'
Autor:
Grecia de la Toba-Avitia, José de Jesús Suárez-Campos, Fabiola Flores-Vázquez, Jorge A. Torres-Ríos, Paula Contreras-Núñez, Laura Hernández-Sánchez, Sergio Moreno-Jiménez, Guillermo Axayacalt Gutiérrez-Aceves, Rocío Mamani-Choquepata, Cristina Vázquez-González, Javier A. Jacobo, Carlos Barrios-Merino, Leonel B. Alvarado-Torres, Miguel Angel Celis
Publikováno v:
World Neurosurgery. 150:e750-e755
Background Arteriovenous malformations (AVMs) are rare vascular congenital lesions that affect mainly patients during their productive years of life. In order to obtain a better quality of life for patients with this disease, a multidisciplinary appr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a38e4efbf76f85f03165a0084736861
https://doi.org/10.1016/j.wneu.2021.03.127
https://doi.org/10.1016/j.wneu.2021.03.127
Autor:
María Elena Rodríguez‐García, Francisco Javier Cotrina‐Vinagre, Marcello Bellusci, Laura Hernández‐Sánchez, Ana Martínez de Aragón, Eduardo López‐Laso, Elena Martín‐Hernández, Francisco Martínez‐Azorín
Publikováno v:
Human mutationREFERENCES. 43(10)
We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48c6cf5995050d165aa9947918f99604
https://pubmed.ncbi.nlm.nih.gov/35753050
https://pubmed.ncbi.nlm.nih.gov/35753050
Publikováno v:
Cureus
We present the case of a 29-year-old patient whose pain began with the interscapular region, progressing to paresthesia and loss of muscle strength in the lower extremities. MRI of the spine was done, a lesion was found in T2 to T6, ependymoma was su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6a89ad1d1e3bb5859a063981d25b39b
http://europepmc.org/articles/PMC8569642
http://europepmc.org/articles/PMC8569642
Autor:
Ana Martínez de Aragón, Patricia Carnicero-Rodríguez, Francisco Javier Cotrina-Vinagre, Elena Martín-Hernández, Laura Hernández-Sánchez, Francisco Martínez-Azorín, Marcello Bellusci, María Elena Rodríguez-García
Publikováno v:
Eur J Hum Genet
We report the clinical, biochemical and genetic findings from a Spanish girl of Caucasian origin who presented with macrocephaly, dysmorphic facial features, developmental delay, hypotonia, combined oxidative phosphorylation (OxPhos) deficiency, epil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a70c1e6ccdd7c693d1d283c09898ab4
https://doi.org/10.1038/s41431-019-0418-1
https://doi.org/10.1038/s41431-019-0418-1
Autor:
María Elena, Rodríguez-García, Francisco Javier, Cotrina-Vinagre, Elena, Arranz-Canales, Ana Martínez de, Aragón, Laura, Hernández-Sánchez, Fátima, Rodríguez-Fornés, Patricia, Carnicero-Rodríguez, Montserrat, Morales-Conejo, Elena, Martín-Hernández, Francisco, Martínez-Azorín
Publikováno v:
Journal of genetics. 99
We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d15e6103ee8707d6358dafc03cbf0057
https://pubmed.ncbi.nlm.nih.gov/32089526
https://pubmed.ncbi.nlm.nih.gov/32089526
Autor:
Elena Martín-Hernández, Patricia Carnicero-Rodríguez, Laura Hernández-Sánchez, Francisco Javier Cotrina-Vinagre, Francisco Martínez-Azorín, Elena Arranz-Canales, Montserrat Morales-Conejo, Fátima Rodríguez-Fornés, Ana Martínez de Aragón, María Elena Rodríguez-García
Publikováno v:
Journal of Genetics. 99
We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59f43ce1bba49863717bae1605a4132c
https://doi.org/10.1007/s12041-019-1165-3
https://doi.org/10.1007/s12041-019-1165-3