Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Gemma García-Fructuoso"'
Autor:
Monica Erazo, Ke Hao, Inga Peter, Anshuman Sewda, Ivette Fernández-Rodriguez, Sierra R. White, Paul A. Romitti, Joan T. Richtsmeier, Yann Heuzé, Ethylin Wang Jabs, Gemma García-Fructuoso, Boris Reva
Publikováno v:
Pediatric research
Pediatric Research
Pediatric Research, Nature Publishing Group, 2019, 85 (4), pp.463-468. ⟨10.1038/s41390-019-0274-2⟩
Pediatric Research
Pediatric Research, Nature Publishing Group, 2019, 85 (4), pp.463-468. ⟨10.1038/s41390-019-0274-2⟩
International audience; Background-Craniosynostosis (CS), the premature fusion of one or more neurocranial sutures, is associated with approximately 200 syndromes; however, about 65%−85% of patients present with no additional major birth defects. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5991a7316ab6837022b1ab4821ae267
https://doi.org/10.1038/s41390-019-0274-2
https://doi.org/10.1038/s41390-019-0274-2
Autor:
Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Rotem Haklai, John Erol Evangelista, Giacomo B. Marino, Avi Ma’ayan, Anshuman Sewda, Greg Holmes, Sierra R. Britton, Won Jun Lee, Meng Wu, Ying Ru, Eric Arnaud, Lorenzo Botto, Lawrence C. Brody, Jo C. Byren, Michele Caggana, Suzan L. Carmichael, Deirdre Cilliers, Kristin Conway, Karen Crawford, Araceli Cuellar, Federico Di Rocco, Michael Engel, Jeffrey Fearon, Marcia L. Feldkamp, Richard Finnell, Sarah Fisher, Christian Freudlsperger, Gemma Garcia-Fructuoso, Rhinda Hagge, Yann Heuzé, Raymond J. Harshbarger, Charlotte Hobbs, Meredith Howley, Mary M. Jenkins, David Johnson, Cristina M. Justice, Alex Kane, Denise Kay, Arun Kumar Gosain, Peter Langlois, Laurence Legal-Mallet, Angela E. Lin, James L. Mills, Jenny E.V. Morton, Peter Noons, Andrew Olshan, John Persing, Julie M. Phipps, Richard Redett, Jennita Reefhuis, Elias Rizk, Thomas D. Samson, Gary M. Shaw, Robert Sicko, Nataliya Smith, David Staffenberg, Joan Stoler, Elizabeth Sweeney, Peter J. Taub, Andrew T. Timberlake, Jolanta Topczewska, Steven A. Wall, Alexander F. Wilson, Louise C. Wilson, Simeon A. Boyadjiev, Andrew O.M. Wilkie, Joan T. Richtsmeier, Ethylin Wang Jabs, Paul A. Romitti, David Karasik, Ramon Y. Birnbaum, Inga Peter
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101851- (2024)
Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study o
Externí odkaz:
https://doaj.org/article/7b6e059bb8a041158140daf3599c8d99
Autor:
Clara Maria del Río-Pérez, Gemma García-Fructuoso, Ofelia Cruz-Martinez, Mariona Suñol‐Capella
Publikováno v:
Neurocirugía. 27:58-66
Choroid plexus tumours are rare, with a peak incidence in the first two years of life. The most common location is the lateral ventricle in children, while in adults it is the fourth ventricle. The most common clinical manifestation is the signs and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ef7ad47ebde043e8518eb91a16acf19
https://doi.org/10.1016/j.neucir.2015.05.002
https://doi.org/10.1016/j.neucir.2015.05.002
Autor:
Santiago Candela, Mariana Alamar, Enrique Ferrer-Rodríguez, Patricia Puerta, Gemma García-Fructuoso, A. Guillen, Uli Barcik, Jordi Muchart
Publikováno v:
Neurocirugía. 26:234-240
The prevalence of arachnoid cysts in children is 1-3%. They are more frequent in boys. They can be located intracranially or in the spine. Intracranial cysts are classified as supratentorial, infratentorial, and supra-infratentorial (tentorial notch)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca86cc0189828cb45bc932e64717ebbe
https://doi.org/10.1016/j.neucir.2015.02.007
https://doi.org/10.1016/j.neucir.2015.02.007
Autor:
Jesús Ruberte, Luca Maggioni, Albert Ribera, Sònia Añor, Eduard Ayuso, Maria Molas, Sara Marcó, Martí Pumarola, Virginia Haurigot, Fatima Bosch, Anna Andaluz, Federico Mingozzi, Albert Ruzo, Mercedes Pineda, Miguel Garcia, Sergio Muñoz, Sandra Motas, Pilar Villacampa, Gemma García-Fructuoso
Publikováno v:
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Universitat Autònoma de Barcelona
For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbcdb7ecc71012ec56147d5fda83dae
https://doi.org/10.1172/jci66778
https://doi.org/10.1172/jci66778
Publikováno v:
Child's Nervous System. 29:1321-1331
Pediatric brain stem tumors (BsT) are a heterogeneous group of diseases. Our aim was to analyze our experience to find out prognostic factors. A retrospective study with BsT patients was performed. Imaging characteristics, extension of surgery, patho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9776ffdfcddad9edd6a78a9ca2b0cbb2
https://doi.org/10.1007/s00381-013-2137-1
https://doi.org/10.1007/s00381-013-2137-1
Autor:
Santiago, Candela, Patricia, Puerta, Mariana, Alamar, Uli, Barcik, Antonio, Guillén, Jordi, Muchart, Gemma, García-Fructuoso, Enrique, Ferrer-Rodríguez
Publikováno v:
Neurocirugia (Asturias, Spain). 26(5)
The prevalence of arachnoid cysts in children is 1-3%. They are more frequent in boys. They can be located intracranially or in the spine. Intracranial cysts are classified as supratentorial, infratentorial, and supra-infratentorial (tentorial notch)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd57feb80559b72291ddce18dbe5e316
https://pubmed.ncbi.nlm.nih.gov/25843209
https://pubmed.ncbi.nlm.nih.gov/25843209
Autor:
Berta Marti Fuster, Gemma García-Fructuoso, Maria Mayoral, Javier Aparicio, Antonio Donaire, Francesc Sanmartí, Francesca Pons, Jordi Rumià, Xavier Setoain, Núria Bargalló, Mar Carreño, Andrés Perissinotti, S. Rubí
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
A precise assessment of the drug-resistant epileptic pediatric population for surgical candidacy is often challenging, and to date there are no evidence-based guidelines for presurgical identification of the epileptogenic zone. To evaluate the useful
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db53dbd83196eac1bf4632187cb48d8
https://pubmed.ncbi.nlm.nih.gov/24799620
https://pubmed.ncbi.nlm.nih.gov/24799620
Autor:
Julita Medina, Gemma García-Fructuoso, Larisa Suárez, Paula Casano-Sancho, Lourdes Ibáñez, Anna Febrer
Publikováno v:
Clinical endocrinology. 79(6)
BACKGROUND Hypopituitarism has been widely described in adults after traumatic brain injury (TBI); however, the available data in paediatric populations are scarce. Here, we report the results of a prospective, long-term study in children, adolescent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ff543ebd310e699f3ac0715cab0ddc7
https://pubmed.ncbi.nlm.nih.gov/23650946
https://pubmed.ncbi.nlm.nih.gov/23650946
Autor:
Clara M, del Río-Pérez, Antonio, Guillén-Quesada, Mariana, Alamar-Abril, Santiago, Candela-Canto, Gemma, García-Fructuoso, Ioanis, Roussos, José M, Costa-Clara
Publikováno v:
Revista de neurologia. 54(11)
Tumours of the choroid plexus are uncommon, with a peak incidence in the early years of life. Clinically they usually produce intracranial hypertension. Histologically, they can be divided into papillomas and carcinomas. Metastasis rarely occurs in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50eaf2749fa327df295509ae2317884d
https://pubmed.ncbi.nlm.nih.gov/22627748
https://pubmed.ncbi.nlm.nih.gov/22627748