Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Manel Baena"'
Autor:
Sara Bernal, Irene Pelaez, Laura Alias, Manel Baena, Juan A. De Pablo-Moreno, Luis J. Serrano, M. Dolores Camero, Eduardo F. Tizzano, Ruben Berrueco, Antonio Liras
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 18, p 9705 (2021)
Factor V is an essential clotting factor that plays a key role in the blood coagulation cascade on account of its procoagulant and anticoagulant activity. Eighty percent of circulating factor V is produced in the liver and the remaining 20% originate
Externí odkaz:
https://doaj.org/article/449daf1392784d4c9addd052b0cf5e7b
Autor:
Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0135189 (2015)
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the DMD gene we
Externí odkaz:
https://doaj.org/article/1b1eb347881b4fc1be05851da8e1216e
Autor:
Adoración Venceslá, María Jesús Barceló, Manel Baena, Manuel Quintana, Montserrat Baiget, Eduardo F. Tizzano
Publikováno v:
Haematologica, Vol 92, Iss 11 (2007)
Approximately 3% of hemophilia B patients have major deletions in the F9 gene, half of which are complete. Marker and quantitative PCR analyses were employed for carrier diagnosis in a family of a mentally retarded hemophilia B patient with a total d
Externí odkaz:
https://doaj.org/article/1bf1be0404524c8487268aec7e4a2f3a
Autor:
Irene Pelaez, Antonio Liras, Juan Andres De Pablo-Moreno, Eduardo F. Tizzano, M. Dolores Camero, Luis J. Serrano, Sara Bernal, Laura Alias, Rubén Berrueco, Manel Baena
Publikováno v:
International Journal of Molecular Sciences
E-Prints Complutense. Archivo Institucional de la UCM
instname
International Journal of Molecular Sciences, Vol 22, Iss 9705, p 9705 (2021)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Volume 22
Issue 18
Scientia
E-Prints Complutense. Archivo Institucional de la UCM
instname
International Journal of Molecular Sciences, Vol 22, Iss 9705, p 9705 (2021)
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Volume 22
Issue 18
Scientia
Factor V is an essential clotting factor that plays a key role in the blood coagulation cascade on account of its procoagulant and anticoagulant activity. Eighty percent of circulating factor V is produced in the liver and the remaining 20% originate
Autor:
Edgard Verdura, Lidia Gonzalez-Quereda, Andrés Nascimento, Carlos Ortez, María José Cubillas Rodríguez, Montserrat Baiget, Manel Baena, Jonàs Juan-Mateu, Pia Gallano
Publikováno v:
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
PLoS ONE, Vol 10, Iss 8, p e0135189 (2015)
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
PLoS ONE, Vol 10, Iss 8, p e0135189 (2015)
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require precise genetic diagnosis because most therapeutic strategies are mutation-specific. To understand more about the genotype-phenotype correlations of the DMD gene we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0032ff19db5e2df1c8b93c1c0116bcc
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8411
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8411
Autor:
Carles Pericay, Montserrat Baiget, Orland Diez, Berta Campos, J. Sanz, Montserrat Domènech, J. Balmaña, Manel Baena, E. Del Rio, Carmen Alonso
Publikováno v:
Annals of Oncology. 12:1699-1703
Summary Background: It is estimated that about 5%-10% of breast cancer (BC) cases is due to inherited predisposition. Early works reported that 45%-50% of site-specific BC families had BRCA1 mutations and 25%-35% BRCA2 mutations. However, these perce
Autor:
Montserrat Domènech, Josep Maria Sabaté, Enrique Lerma, Montserrat Baiget, Manel Baena, Antonio Castillo Gómez, Carles Pericay, Carmen Alonso, JJ López, Judith Balmañ, Berta Campos, Orland Diez
Publikováno v:
Medicina Clínica. 117:161-166
BACKGROUND: Clinico-pathological differences between BRCA1 or BRCA2 mutation-associated breast cancer (BC) and sporadic BC are little known. PATIENT AND METHODS: We analysed the clinico-pathological characteristics and clinical follow-up of 30 patien
Autor:
Víctor Jiménez-Yuste, María Teresa Álvarez-Román, Eduardo F. Tizzano, Adoración Venceslá, Isabel Rivas, Manel Baena, Mónica Martín-Salces, Pablo Fuentes-Prior, Nora Butta, Ihosvany Fernandez
Publikováno v:
THROMBOSIS AND HAEMOSTASIS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
SummarySevere manifestations of X-linked recessive disorders such as haemophilia A (HA) are rare in females. Here we describe the clinical and genetic findings in five female HA patients from two different Spanish families. Three sisters born to cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::634fc98a49351b183a3b9c30913a6fb3
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12533
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12533
Autor:
Joan Martí-Fàbregas, Eduardo F. Tizzano, Francesc Carreras, Josep Lluís Martí-Vilalta, Rubén Leta, Guillem Pons-Lladó, Robert Belvis, Manel Baena, Montserrat Baiget
Publikováno v:
CLINICAL NEUROLOGY AND NEUROSURGERY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Objective: Patent foramen ovale (PFO) has been related to stroke but its existence has not been explained to date. NKX2-5 is the most implicated gene in fetal atrial septation. We studied NKX2-5 with respect to the presence or absence of PFO in strok
Autor:
José Mateo, Eduardo F. Tizzano, Jordi Fontcuberta, Mónica Cornet, Manel Baena, Montserrat Baiget, M J Barceló, Adoración Venceslá
Publikováno v:
Thrombosis and haemostasis. 94(3)
SummaryLarge deletions of the factorVIII gene account for approximately 5% of severe haemophilia A patients. Although deletions are readily detectable in males, the identification of heterozygosity in possible carriers of these families still constit