Experience of the Spanish Group for Hematopoietic Transplantation (GETMON-GETH) in allogenic Hematopoietic stem cell Transplantation in Philadelphia acute lymphoblastic leukemia

Autor: Víctor Galán Gómez, Lydia de la Fuente Regaño, Antonia Rodríguez Villa, Cristina Díaz de Heredia Rubio, Marta González Vicent, Isabel Badell Serra, José María Fernández, Antonia Isabel Pascual Martínez, José María Pérez Hurtado, Mónica López Duarte, M. Soledad Maldonado Regalado, Antonio Pérez-Martínez

Publikováno v: Anales de Pediatría (English Edition), Vol 96, Iss 4, Pp 309-318 (2022)

Introduction: Outcomes in patients diagnosed of acute lymphoblastic leukemia with Philadelphia chromosome (Ph-ALL) remains unfavourable compared to other subtypes of acute lymphoblastic leukemia despite improvements in drug treatments as well as adva

Externí odkaz: https://doaj.org/article/44dbbc0fb46e4deaba279d31c18bd634

Hematopoietic stem cell transplantation in pediatric patients with β-thalassemia and sickle cell disease: An experience of the Spanish Working Group for Bone Marrow Transplantation in Children (GETMON)

Autor: Isabel Badell, Ana Sastre, Laura C. Alonso, Mar Bermúdez-Cortés, Cristina Díaz de Heredia, Cristina Beléndez, Marta González-Vicent, Antonia Rodríguez-Villa, Raquel Hladun

Publikováno v: Medicina Clínica (English Edition). 152:135-140

Background and objectives A recently occurring increase of the prevalence of haemoglobinopathies, β-thalassaemia major (TM) and sickle cell disease (SCD) over the last two decades in our country has generated new needs in terms of medical resources

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::43a781c32c0dbf1ec68f6cd705e3b8fb
https://doi.org/10.1016/j.medcle.2018.12.010

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

Autor: Montserrat Torrent, Maria Castella, Francis P. Lach, José Sánchez de Toledo, Antonia Rodríguez-Villa, Juan A. Bueren, Antonio Molinés, Julián Sevilla, Jesús Estella, Detlev Schindler, Elsa Callen, Muñoz A, Jordi Surrallés, A. Figuera, T Olivé, Javier Benitez, Beatriz Porto, Roser Pujol, Luis Madero, Juan P. Trujillo, Pedro Gómez, Cristina Beléndez, Arleen D. Auerbach, María Tapia, Teresa Ferro, Elena Cela, Angeles Dasí, Isabel Badell, José A. Casado, Hans J. J. P. Gille, José Barbot, Cristina Díaz de Heredia

Publikováno v: Castella, M, Pujol, R, Callen, E, Trujillo, J P, Casado, J A, Gille, J J P, Lach, F P, Auerbach, A D, Schindler, D, Benitez, J, Porto, B, Ferro, T, Munoz, A, Sevilla, J, Madero, L, Cela, E, Belendez, C, de Heredia, C D, Olive, T, de Toledo, J S, Badell, I, Torrent, M, Estella, J, Dasi, A, Rodriguez-Villa, A, Gomez, P, Barbot, J, Tapia, M, Molines, A, Figuera, A, Bueren, J A & Surralles, J 2011, ' Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations ', Blood, vol. 117, no. 14, pp. 3759-3769 . https://doi.org/10.1182/blood-2010-08-299917
Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
BLOOD
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Blood, 117(14), 3759-3769. American Society of Hematology

Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::162f28b44ca1a4dfd42b63fb1a701861
https://pubmed.ncbi.nlm.nih.gov/21273304

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

Autor: Isabel Badell, Antonio Molinés, José A. Casado, Angeles Cantalejo, Jesús Estella, Helmut Hanenberg, Stephan Lobitz, Elsa Callen, José C. Segovia, Detlev Schindler, Antonia Rodríguez-Villa, Julián Sevilla, Ariana Jacome, Jesús Sánchez-Calero, Maria Castella, José Cervera, T Olivé, Angeles Dasí, Elena Cela, Juan Ortega, Juan A. Bueren, Paula Río, María Tapia, Reinhard Kalb, Muñoz A, Kornelia Neveling, Luis Madero, Jordi Surrallés, Teresa Ferro

Publikováno v: JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Background: Fanconi anaemia is a heterogeneous genetic disease, where 12 complementation groups have been already described. Identifying the complementation group in patients with Fanconi anaemia constitutes a direct procedure to confirm the diagnosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdfb63769f4cb050cca8540df137586b
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=5516