Results 1 to 10 of about 85,361 (267)

Global Neurocognitive and Emotional Dysfunction in Fanconi Anemia: A Neuropsychological Case Report of a 39-Year-Old Patient [PDF]

Case Reports in Neurological Medicine
Fanconi anemia is a rare genetic disorder characterized by impaired DNA repair, leading to bone marrow failure, congenital anomalies, and increased cancer risk.
Ollie Fegter, Brian M. Cerny, Jason R. Soble   +2 more
doaj   +2 more sources

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology [PDF]

Haematologica, 2014
Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents.
Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia   +26 more
doaj   +4 more sources

Loss of Fanconi anemia proteins causes a reliance on lysosomal exocytosis. [PDF]

Cell Death Dis
Fu BXH, Xu A, Li H, Johnson DE, Grandis JR, Gilbert LA.   +5 more
europepmc   +3 more sources

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia [PDF]

Haematologica, 2018
Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emerging.
Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia   +14 more
doaj   +2 more sources

A rescue fanconi anemia humanized mouse model with endogenous FA mutation and high human hematopoietic stem cell chimerism. [PDF]

Mol Ther Methods Clin Dev
Choo S, Tong AH, Fields E, Mack HM, Humbert O, Radtke S, Kiem HP.   +6 more
europepmc   +2 more sources

Fanconi Anemia [PDF]

Hematology/Oncology Clinics of North America, 2009
Fanconi anemia (FA) is an autosomal and X-linked recessive disorder characterized by bone marrow failure, acute myelogenous leukemia, solid tumors, and developmental abnormalities. Recent years have seen a dramatic improvement in FA patient treatment, resulting in a greater survival of children into adulthood.
Allison M, Green, Gary M, Kupfer
openaire   +3 more sources

Oral and Dental Manifestations of Fanconi Anemia

Galician Medical Journal, 2021
Fanconi anemia is a rare disease, which is characterized by decreased production of all blood cell types. Fanconi anemia is the most common inherited form of aplastic anemia.
Vesna Ambarkova
doaj   +1 more source

Fanconi Anemia

Cancer Genetics and Cytogenetics, 1993
Mehta PA, Ebens CL.
europepmc   +2 more sources

Fanconi Anemia: Examining Guidelines for Testing All Patients with Hand Anomalies Using a Machine Learning Approach

Children, 2022
Background: This study investigated the questionable necessity of genetic testing for Fanconi anemia in children with hand anomalies. The current UK guidelines suggest that every child with radial ray dysplasia or a thumb anomaly should undergo further ...
Christoph Wallner, Jane Hurst, Björn Behr, Mohammad Abu Tareq Rony, Anthony Barabás, Gill Smith   +5 more
doaj   +1 more source

IL17A and IL17RA gene polymorphisms in Fanconi anemia [PDF]

Brazilian Oral Research, 2023
Fanconi anemia is a rare autosomal recessive disease. In this disease, cytokine pathways can induce the bone marrow failure that is observed in individuals with Fanconi anemia.
Rafael Zancan MOBILE, Monalisa Castilho MENDES, Cleber MACHADO-SOUZA, Priscila de Mattos QUEIROZ, Carmem Maria Sales BONFIM, Cassius Carvalho TORRES-PEREIRA, Juliana Lucena SCHUSSEL   +6 more
doaj   +1 more source