Results 61 to 70 of about 70,491 (173)

Chromosomal aberrations in patients suspected with the risk of Fanconi anemia

مجله دانشگاه علوم پزشکی گرگان, 2013
Background and Objective: Fanconi anemia is the most prevalent inherited aplastic anemia. Diagnosis based solely on the recognition of clinical symptoms is not reliable.
Rezamand A, Asghari Estiar M, Sadeghi B, Sakhinia E   +3 more
doaj  

A rare case of Fanconi anemia with Mitomycin C sensitivity: A pediatrics case report

Clinical Case Reports
Key Clinical Message Fanconi anemia with Mitomycin C sensitivity is a rare, complex hematological condition. Our case study emphasizes the significance of early diagnosis, appropriate genetic testing, and cautious use of chemotherapeutic agents. Abstract
Vraj Bhatt, Sunidhi Rohatgi, Mansi Singh
doaj   +1 more source

Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

Haematologica, 2008
Background Fanconi anemia is an inherited genomic instability syndrome associated with progressive bone marrow failure leading to death or the requirement for hematopoietic stem cell transplantation, acute myeloid leukemia, and solid tumors.
Philip S. Rosenberg, Blanche P. Alter, Wolfram Ebell   +2 more
doaj   +1 more source

Klippel–Trenaunay syndrome associated with chronic myeloid leukemia

Hematology, Transfusion and Cell Therapy, 2020
C. Coskun, T. Aksu, F. Gumruk, S. Unal
doaj   +1 more source

A rare variant of dyskeratosis congenita: RTEL1 defect

Hematology, Transfusion and Cell Therapy, 2020
C. Coskun, S. Unal, N. Akarsu
doaj   +1 more source

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

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   +1 more source

Recent advances in understanding hematopoiesis in Fanconi Anemia [version 1; referees: 4 approved]

F1000Research, 2018
Fanconi anemia is an inherited disease characterized by genomic instability, hypersensitivity to DNA cross-linking agents, bone marrow failure, short stature, skeletal abnormalities, and a high relative risk of myeloid leukemia and epithelial ...
Grover Bagby
doaj   +1 more source

Fanconi anemia [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2018
Fanconi anemia (FA) is a rare human recessive syndrome featuring bone marrow failure, myelodysplasia, and predisposition to cancer as well as chromosome fragility and hypersensitivity to DNA interstrands crosslinking agents. FA was described in 1927 by the Swiss pediatrician Giuseppe Fanconi, which reported a first family with three affected sibling ...
openaire   +2 more sources

Chromosomal instability syndromes are sensitive to poly ADP-ribose polymerase inhibitors

Haematologica, 2008
Poly ADP-ribose polymerase inhibitors have been shown to target cells with homologous recombination DNA repair defects. We report that poly ADP-ribose polymerase inhibitors induces apoptosis in cells deficient in other key DNA repair components ...
Terry J. Gaymes, Sydney Shall, Farzin Farzaneh, Ghulam J. Mufti   +3 more
doaj   +1 more source

Pregnancy after allogeneic hematopoietic stem cell transplantation in a Fanconi anemia patient

International Medical Case Reports Journal, 2017
Simin Atashkhoei, Solmaz Fakhari, Eissa Bilehjani, Haleh Farzin Department of Anesthesiology, Al-Zahra Hospital, Tabriz University of Medical Sciences, Tabriz, Iran Abstract: Pregnancy in patients with Fanconi anemia (FA) is rare. However,
Atashkhoei S, Fakhari S, Bilehjani E, Farzin H   +3 more
doaj