Results 21 to 30 of about 70,491 (173)

Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report

Brazilian Journal of Anesthesiology, 2014
Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited.
Zafer Dogan, Huseyin Yildiz, Ismail Coskuner, Murat Uzel, Mesut Garipardic   +4 more
doaj   +3 more sources

Fanconi anemia pathway [PDF]

Current Biology, 2017
Rodríguez and D'Andrea introduce the Fanconi anemia pathway and its role in DNA repair and other cellular functions.
Alfredo, Rodríguez, Alan, D'Andrea
openaire   +2 more sources

A test for Fanconi's anemia [PDF]

Blood, 1987
A simple and reliable cytogenetic test for Fanconi's anemia (FA) that is based on the hypersensitivity of FA cells to mitomycin C (MC) is described. Equal volumes of whole blood from a patient in whom the diagnosis of FA is suspected and from a normal person of the opposite sex are co-cultured in phytohemagglutinin-containing medium in the presence and
J, German, S, Schonberg, S, Caskie, D, Warburton, C, Falk, J H, Ray   +5 more
openaire   +3 more sources

Diagnosis of Fanconi anemia in patients with bone marrow failure

Haematologica, 2009
Background Patients with bone marrow failure and undiagnosed underlying Fanconi anemia may experience major toxicity if given standard-dose conditioning regimens for hematopoietic stem cell transplant.
Fernando O. Pinto, Thierry Leblanc, Delphine Chamousset, Gwenaelle Le Roux, Benoit Brethon, Bruno Cassinat, Jérôme Larghero, Jean-Pierre de Villartay, Dominique Stoppa-Lyonnet, André Baruchel, Gérard Socié, Eliane Gluckman, Jean Soulier   +12 more
doaj   +1 more source

Immune thrombocytopenia in two unrelated Fanconi anemia patients – a mere coincidence?

Frontiers in Pediatrics, 2015
Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia.
Anna eKarastaneva, Anna eKarastaneva, Sofia eLanz, Angela eWawer, Uta eBehrends, Detlev eSchindler, Ralf eDietrich, Stefan eBurdach, Christian eUrban, Martin eBenesch, Markus G SEIDEL   +10 more
doaj   +1 more source

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

Haematologica, 2010
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter   +20 more
doaj   +1 more source

Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature

Frontiers in Physiology, 2021
Diamond Blackfan Anemia (DBA) is an inherited bone marrow (BM) failure syndrome, characterized by a paucity of erythroid differentiation. DBA is mainly caused by the mutations in ribosomal protein genes, hence classified as ribosomopathy.
Beren Karaosmanoglu, Beren Karaosmanoglu, M. Alper Kursunel, Duygu Uckan Cetinkaya, Duygu Uckan Cetinkaya, Fatma Gumruk, Fatma Gumruk, Gunes Esendagli, Sule Unal, Sule Unal, Ekim Z. Taskiran   +10 more
doaj   +1 more source

Fanca−/− hematopoietic stem cells demonstrate a mobilization defect which can be overcome by administration of the Rac inhibitor NSC23766

Haematologica, 2009
Fanconi anemia is a severe bone marrow failure syndrome resulting from inactivating mutations of Fanconi anemia pathway genes. Gene and cell therapy trials using hematopoietic stem cells and progenitors have been hampered by poor mobilization of HSC to ...
Michael D. Milsom, Andrew W. Lee, Yi Zheng, Jose A. Cancelas   +3 more
doaj   +1 more source

Elevated levels of STAT1 in Fanconi anemia group A lymphoblasts correlate with the cells’ sensitivity to DNA interstrand crosslinking drugs

Haematologica, 2013
Progressive bone marrow failure starting in the first decade of life is one of the main characteristics of Fanconi anemia. Along with the bone marrow failure, this pathology is characterized by congenital malformations, endocrine dysfunction and an ...
Inés Prieto-Remón, Dámaso Sánchez-Carrera, Mónica López-Duarte, Carlos Richard, Carlos Pipaón   +4 more
doaj   +1 more source

ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION IN FANCONI ANEMIA; A SINGLE CENTRE EXPERIENCE

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the treatment outcome of Hematopoietic stem cell transplantation in Fanconi Anemia. Study Design: Case series. Place and Duration of Study: Armed Forces Bone Marrow Transplant Center, Rawalpindi, from Jan 2001 to Jun 2018 ...
Tariq Azam Khattak, Muhammad Farhan, Tariq Ghafoor, Tariq Mahmood Satti, Qamar Un Nisa Chaudhry, Mehreen Ali Khan   +5 more
doaj   +1 more source