Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Pilar Poo"'
Publikováno v:
Spirale. :115-128
Autor:
Pilar Poo, Mami Yamasaki, Eugenia Monros, Nobuhiko Okamoto, Yonehiro Kanemura, Rebeca Valero, Rolando F. Del Maestro
Publikováno v:
Journal of Human Genetics. 49:334-337
Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with X-linked hydrocephalus and some allelic disorders. Hirschsprung's disease (HSCR) is characterized by the absence o
Autor:
Daniel, Natera-De Benito, Pilar, Poo, Esther, Gean, Asunción, Vicente-Villa, Angels, García-Cazorla, M Carmen, Fons-Estupiña
Publikováno v:
Revista de neurologia. 59(4)
Diploid/triploid mosaicism is a rare chromosomal abnormality. It is caused by a failure in the postzygotic division during embryonic development. It results in the coexistence of two genetically heterogeneous cell lines (46,XX and 69,XXX) in one indi
Autor:
Nuria Rovira, Xavier Krauel, Victoria Cusi, Pilar Poo, Margarita Ibáñez, Marti Iriondo, Africa Pertierra, Ana Alarcón, Thais Agut
Publikováno v:
Early human development. 87(4)
The role of chorioamnionitis in neurodevelopment of preterm infants is not fully understood.To examine the association between different indicators of intrauterine inflammation (clinical chorioamnionitis, histological chorioamnionitis and funisitis)
Autor:
Angela, Sempere, Carmen, Fons, Angela, Arias, Pilar, Rodríguez-Pombo, Begoña, Merinero, Patricia, Alcaide, Antoni, Capdevila, Antonia, Ribes, Rosario, Duque, Jesús, Eirís, Pilar, Poo, Emilio, Fernández-Alvarez, Jaume, Campistol, Rafael, Artuch
Publikováno v:
Medicina clinica. 133(19)
Brain creatine (Cr) deficiencies are a group of inborn errors of metabolism that are characterized by an absence or severe reduction of brain Cr. Clinically, these patients can display psychomotor/mental retardation and language disorders, commonly a
Publikováno v:
BRAIN & DEVELOPMENT
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Rett syndrome (RTT) is an X-linked neurodevelopmental disease that affects girls almost exclusively. In a high proportion of patients the disease is caused by de novo mutations at the MECP2 gene, encoding methyl-CpG-binding protein 2. With the aim to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2353af113c82de455130b15f013141e4
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14161
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=14161
Publikováno v:
Pediatric radiology. 29(3)
We report two children who presented with progressive macrocephaly and dilated Virchow-Robin spaces on magnetic resonance imaging. Follow-ups of 1-4 years and 5-9 years, respectively, showed normal neuro-developmental progress. We suggest that dilate
Publikováno v:
AIDS. 18:352-353
Autor:
Angels García-Cazorla, Anna Sans, Miguel Baquero, María Dolores García-Bargo, Montse Arellano, Pilar Poo, Esther Gean, Jaume Campistol
Publikováno v:
Developmental Medicine & Child Neurology; Mar2004, Vol. 46 Issue 3, p148-153, 6p
Autor:
Olga Laporta-Hoyos, Kerstin Pannek, Júlia Ballester-Plané, Lee B. Reid, Élida Vázquez, Ignacio Delgado, Leire Zubiaurre-Elorza, Alfons Macaya, Pilar Póo, Mar Meléndez-Plumed, Carme Junqué, Roslyn Boyd, Roser Pueyo
Publikováno v:
NeuroImage: Clinical, Vol 15, Iss , Pp 789-800 (2017)
Background: Dyskinetic cerebral palsy (CP) is one of the most disabling motor types of CP and has been classically associated with injury to the basal ganglia and thalamus. Although cognitive dysfunction is common in CP, there is a paucity of publish
Externí odkaz:
https://doaj.org/article/8d7395bdadca416fa5e3b70791cf375b