Results 11 to 20 of about 70,491 (173)
Atypical Presentation of UBE2T‐Related Fanconi Anemia With Immune‐Mediated Thrombocytopenia and Hematopoietic Somatic Mosaicism: A Case Report [PDF]
EJHaemABSTRACT Fanconi anemia (FA) is a genetically heterogeneous disorder of chromosome instability leading to bone marrow failure (BMF) and other manifestations. We report a case of FA in which two atypical features initially obscured the diagnosis: the presence of T cell‐mediated thrombocytopenia, and somatic mosaicism leading to normal chromosome ...
Kiely B, Bertuch A.
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Micronucleus Frequency Test in Epithelial Cells Desquamated From the Oral Mucosa of Patients With Fanconi Anemia. [PDF]
J Oral Pathol MedABSTRACT Background Fanconi anemia (FA) is a rare genetic disorder predisposing patients to oral squamous cell carcinoma (OSCC). Hematopoietic stem cell transplantation (HSCT) corrects bone marrow failure but may increase the risk of malignancies. Exfoliative cytology and the micronucleus (MN) test provide noninvasive assessment of genomic instability.
Ballardin BS +4 more
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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
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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
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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 +5 more
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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 +6 more
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Pembrolizumab for Fanconi anemia with advanced tongue cancer
Otolaryngology Case Reports, 2022 Introduction: With underlying Fanconi Anemia, head and neck cancer treatment options are usually limited due to the chromosome instability. Pembrolizumab plays a vital role in head and neck cancer with recurrence and distant metastases.
Keitaro Nagano +3 more
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Case series of Fanconi anemia in Hevi pediatric hospital-Duhok [PDF]
Zanco Journal of Medical Sciences, 2018 Background and objective: Fanconi anemia is a rare inherited autosomal recessive disease characterized by chromosomal instability, progressive bone marrow failure, congenital malformations, and a high propensity of malignancies.
Adnan A.S. Al-Doski
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Erythropoiesis in Fanconi's anemia [PDF]
Blood, 1991 Abstract Fanconi's anemia (FA) is an autosomal recessive condition in which greater than 90% of the homozygotes develop aplastic anemia. To determine the relation between erythroid progenitors and clinical status, blood and marrow mononuclear cells were cultured in methyl cellulose with erythropoietin, plus other hematopoietic growth ...
B P, Alter, M E, Knobloch, R S, Weinberg
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Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023 Pancytopenia is a reduction in all the three peripheral blood cell lineages and presents as anemia, leukopenia, and thrombocytopenia. Aplastic anemia is pancytopenia with bone marrow hypocellularity.
Manaswini Edara +3 more
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