Zobrazeno 1 - 10 of 13 pro vyhledávání: '"Mar Jiménez de la Peña"'
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Akademický článek
RM fetal en las anomalías del SNC: Aspectos de interés para el obstetra Abnormalities in fetal CNS: Interesting issues to the obstetrician
Autor: Manuel Recio Rodríguez, Vicente Martínez de Vega Fernández, Pilar Martínez Ten, Javier Pérez Pedregosa, Daniel Martín Fernández-Mayoralas, Mar Jiménez de la Peña
Publikováno v: Revista Argentina de Radiología, Vol 74, Iss 4, Pp 385-396 (2010)
La resonancia magnética (RM) fetal es una técnica de imagen en auge, útil en la valoración del cerebro y columna fetal. Ayuda a estudiar el desarrollo cerebral fetal y se puede realizar un diagnóstico precoz de las anomalías congénitas. La ima
Externí odkaz: https://doaj.org/article/0eddf5d8fe9f4e8c9fe657837aecdc86
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2
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review
Autor: Daniel Martín Fernández-Mayoralas, Jacobo Albert, Sara López-Martín, Mar Jiménez de la Peña, Ana Laura Fernández-Perrone, Ana Jiménez de Domingo, Beatriz Calleja-Pérez, Mónica Martínez-García, Sara Álvarez, Alberto Fernández-Jaén
Publikováno v: Molecular Syndromology. 13:165-170
Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little is known about the genotype-phenotype characteristics of this disorder. Here, we describe a 5-year-ol
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7234ee0c1becb4a42ba6a3a6813152b6
https://doi.org/10.1159/000519365
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4
Automatic identification of atypical clinical fMRI results
Autor: Nick F. Ramsey, Gord von Campe, J. Martijn Jansma, Lenny Ramsey, Tom J. Snijders, Mar Jiménez de la Peña, Margit Jehna, Geert-Jan Rutten, Katharina Rosengarth, Alberto Bizzi, Elke Hattingen, Frank Dodoo-Schittko
Publikováno v: Neuroradiology
Purpose Functional MRI is not routinely used for neurosurgical planning despite potential important advantages, due to difficulty of determining quality. We introduce a novel method for objective evaluation of fMRI scan quality, based on activation m
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1620a25c7d200d4df0f776a1d7bb09c5
https://pubmed.ncbi.nlm.nih.gov/32986199
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7
Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia
Autor: Alberto Fernández-Jaén, Daniel Martín Fernández-Mayoralas, Mar Jiménez-de-la-Peña, Ana Laura Fernández-Perrone, Manuel Recio-Rodríguez, Raquel Cano-Alonso
Publikováno v: Journal of Child Neurology. 29:NP122-NP126
Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result of a malformation of the frontonasal elevation. It could occur either in isolation or as pa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd09db316bed2affc359baed540a0a9a
https://doi.org/10.1177/0883073813508316
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8
Síndrome PHACES (Pascual Castroviejo tipo II): resonancia magnética pre y posnatal
Autor: D. Martín Fernández-Mayoralas, Mar Jiménez-de-la-Peña, Manuel Recio-Rodríguez, Alberto Fernández-Jaén
Publikováno v: Radiología. 55:537-540
The neurocutaneous syndrome known by the acronym PHACE consists of the association of a segmental facial hemangioma with, among other entities, posterior fossa anomalies, cerebrovascular anomalies, cardiac involvement/aortic coarctation, and eye abno
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a3435f66daa7621ff3a365f94a25c60d
https://doi.org/10.1016/j.rx.2010.08.014
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9
In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI)
Autor: Daniel Martín Fernández-Mayoralas, Mar Jiménez-de-la-Peña, Nuria Muñoz-Jareño, Ana Laura Fernández-Perrone, Manuel Recio-Rodríguez, Alberto Fernández-Jaén
Publikováno v: Journal of Child Neurology. 29:118-121
The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular alterations. This study presents a case of diagnostic suspicion based on fetal MRI. We report the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4680740f1d98c929f917e9ecfe454fa
https://doi.org/10.1177/0883073812467508
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10
[Radiological findings in congenital anosmia: a case report]
Autor: María, Sánchez-Pérez, Manuel, Recio-Rodríguez, Mar, Jiménez-De la Peña, Javier, Carrascoso-Arranz, Vicente, Martínez-De Vega
Publikováno v: Revista de neurologia. 53(2)
Hypoplasia of the olfactory tracts and bulbs is a rare cause of anosmia in the paediatric population. In most cases it is usually due to an acquired cause and in only a few is it associated to chromosomal disorders (Kallman's syndrome, among others).
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a7e95f0f99e2da7ea76215daed3fb6e3
https://pubmed.ncbi.nlm.nih.gov/21720978
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