Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Isabel Sánchez-Guiu"'
Autor:
Antonio Cano Sánchez, Dolores Serra Esteve, Ana Lluch Hernández, Juan Carlos Triviño Pardo, Anna Gonzalez-Neira, Sergio Hoyas Calvo, Rebeca Miñambres Herraiz, Pablo Ignacio Marrón, Ricardo Rosa Ferrero, Ana Llaneza-Folgueras, Estrella Rubio Solsona, Javier Benítez Ortiz, Guillermo Pita Macpherson, María Isabel Sánchez Guiu, Santiago Palacios Gil-Antuñano
Publikováno v:
Revista de Senología y Patología Mamaria. 32:94-99
Resumen Objetivo Estratificacion de la poblacion general con base en las variantes genotipicas para seleccionar a aquellas mujeres de alto riesgo a desarrollar un cancer de mama que puedan ser candidatas a un seguimiento individualizado. Material y m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3e4a8f1595d7b3a69ba40c53edfea298
https://doi.org/10.1016/j.senol.2019.07.001
https://doi.org/10.1016/j.senol.2019.07.001
Autor:
Miguel A. Sanz, Jaime Sanz, Vicente Vicente, Dolores Planelles, José Rivera, Federico Moscardó, Guillermo Sanz, N. Puig, Consuelo González-Manchón, Santiago Bonanad, Maria Luisa Lozano, Isabel Sánchez-Guiu, Pau Montesinos, Ana Rosa Cid, Lorenzo Ji, Saturnino Haya
Publikováno v:
Clinical Case Reports
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Key Clinical Message Glanzmann thrombasthenia is a rare bleeding disorder that can present life‐threatening bleeding. Our patients develop antiplatelet antibodies that become refractory to any pharmacological treatment. Allogeneic hematopoietic ste
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab62d54766b041d97f7917270720c8d
https://doi.org/10.1002/ccr3.1206
https://doi.org/10.1002/ccr3.1206
Autor:
Agustina Bernal, Ana B. Arroyo, Isabel Sánchez Guiu, J.A. Iniesta, Vicente Vicente, Maria Luisa Lozano, José Manuel Martínez Rodríguez, Constantino Martínez, José Rivera, Eva Jover
Publikováno v:
Blood Coagulation & Fibrinolysis. 25:604-611
High on-treatment platelet reactivity (HTPR), referred to as a higher than expected platelet reactivity in patients under antiplatelet therapy, could influence outcome in cerebrovascular disease (CVD), but its prevalence and its stability over time i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71a456fd41f1411256a69ecc8f07373
https://doi.org/10.1097/mbc.0000000000000118
https://doi.org/10.1097/mbc.0000000000000118
Autor:
José Rivera, Vicente Vicente, Constantino Martínez, Maria Luisa Lozano, Francisco José Ortuño, José Navarro-Fernández, Isabel Sánchez-Guiu, Ana Isabel Antón, José Luis Fuster, José Miguel Couselo, Nuria García-Barberá
Publikováno v:
European Journal of Haematology. 92:49-58
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease resulting from mutations in the LYST/CHS1 gene, which encodes for a 429 kDa protein, CHS1/LYST, that regulates vesicle trafficking and determines the size of lysosomes and other org
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c62de60669b0584c48721c40a1b1a9
https://doi.org/10.1111/ejh.12203
https://doi.org/10.1111/ejh.12203
Publikováno v:
Orphanet Journal of Rare Diseases
Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive congenital immunodeficiency caused by mutations in CHS1, a gene encoding a putative lysosomal trafficking protein. In the majority of patients, this disorder is typically characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f92053536c2d586df2da6d6bcb6062
https://doi.org/10.1186/s13023-014-0132-6
https://doi.org/10.1186/s13023-014-0132-6
Autor:
Francisco Velasco, Maria Luisa Lozano, Isabel Sánchez-Guiu, Ana Isabel Antón, Jose Miguel Torregrosa, José Rivera, V. Vicente
Publikováno v:
Hamostaseologie. 34(4)
SummaryHermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculo- cutaneous hypopigmentation, bleeding diathesis and granulomatous colitis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4c33ba3063f14ede1fac0d81e8bdce2
https://pubmed.ncbi.nlm.nih.gov/25117010
https://pubmed.ncbi.nlm.nih.gov/25117010
Autor:
Miguel Lozano, José Rivera, Vicente Vicente, Teresa Sevivas, José F Lucia, Consuelo González-Manchón, Francisco Velasco, Ana Isabel Antón, José Padilla, Maria Luisa Lozano, Isabel Sánchez-Guiu, María Fernanda López-Fernández, Ana Rosa Cid
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
Orphanet Journal of Rare Diseases
instname
Orphanet Journal of Rare Diseases
12 p.-6 tab. Sánchez-Guiu et al.
[Background] The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients. In order to eva
[Background] The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients. In order to eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2545bb3442e42f522da5cc98aefa87ff
http://hdl.handle.net/10261/116867
http://hdl.handle.net/10261/116867
Autor:
Vicente Vicente, Francisca Ferrer-Marín, Maria Luisa Lozano, Isabel Sánchez-Guiu, José Rivera, A Gómez-Simón, Plaza Em, Jose Miguel Torregrosa
Publikováno v:
Vox sanguinis. 107(4)
Background and Objectives Inaccuracy of fingerstick haemoglobin compromises donor's health and losses blood donations. We evaluated the benefit of double haemoglobin screening with HemoCue. Study Design and Methods Blood donors underwent fingerstick
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b583c8058b00c719793c83390daca3cd
https://pubmed.ncbi.nlm.nih.gov/24916720
https://pubmed.ncbi.nlm.nih.gov/24916720
Autor:
Ismail Reisli, Neil V. Morgan, Umran Caliskan, Sevgi Keles, Isabel Sánchez Guiu, Hüseyin Tokgöz
Publikováno v:
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology. 24(3)
Background CD3 chain expression defects including CD3 gamma, epsilon, delta, and zeta chain subunits, are autosomal recessive inherited severe combined immunodeficiencies (SCID). The phenotype is usually T-B+NK+ SCID with lymphopenia where the clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38b4a9aaa75ad3e42708f6459d3cff74
https://pubmed.ncbi.nlm.nih.gov/23590417
https://pubmed.ncbi.nlm.nih.gov/23590417
Autor:
Susana Riesco, Elena Fontecha, Beatriz Perez, José Rivera, Jesús M. Hernández, Esther Llinares, José María Bastida, Mónica del Rey, Carlos Aguilar, Emilia Pardal, José Luis Fuster, Javier García Frade, Maria Luisa Lozano, José Ramón Gonzalez, Paz Martinez-Badás, Isabel Sánchez-Guiu, Consuelo del Cañizo, Rosa Fisac, Rocío Benito, María Jesús Peñarrubia, Vicente Vicente, Maria Jose Cebeiro, Carmen Aguilera
Publikováno v:
Blood. 124:4210-4210
Introduction The inherited platelet disorders (IPD) are a heterogeneous group of rare diseases including quantitative and/or qualitative platelet defects. Classically, patients with IPD are first functionally tested to know the possible defect before
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::456b0ca7c1d9462395b7e0097c9db428
https://doi.org/10.1182/blood.v124.21.4210.4210
https://doi.org/10.1182/blood.v124.21.4210.4210