Results 131 to 140 of about 70,491 (173)
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Fanconi Anemia and Ubiquitination
Journal of Genetics and Genomics, 2007Fanconi anemia (FA) is a rare recessive hereditary disease characterized clinically by congenital defects, progressive bone-marrow failure, and cancer predisposition. Cells from FA patients exhibit hypersensitivity to DNA cross-linking agents, such as mitomycin C (MMC).
Yingying, Zhang +2 more
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Dermatologic Clinics, 1995
Fanconi anemia is a phenotypically and genotypically heterogeneous syndrome in which patients manifest various congenital abnormalities, bone marrow failure, and predisposition to malignancy. The primary dermatologic manifestations are pigmentation abnormalities (hyperpigmentation, hypopigmentation, café-au-lait spots) and cutaneous malignancies.
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Fanconi anemia is a phenotypically and genotypically heterogeneous syndrome in which patients manifest various congenital abnormalities, bone marrow failure, and predisposition to malignancy. The primary dermatologic manifestations are pigmentation abnormalities (hyperpigmentation, hypopigmentation, café-au-lait spots) and cutaneous malignancies.
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Hematology, 2011
Abstract Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF). Fifteen FANC genes have been identified to date, the most prevalent being FANCA, FANCC, FANCG, and FANCD2. In addition to classical presentations with progressive BMF during childhood and a positive chromosome breakage test in the blood, atypical ...
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Abstract Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF). Fifteen FANC genes have been identified to date, the most prevalent being FANCA, FANCC, FANCG, and FANCD2. In addition to classical presentations with progressive BMF during childhood and a positive chromosome breakage test in the blood, atypical ...
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The Fanconi Anemia Pathway and Fertility
Trends in Genetics, 2019Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure and cancer predispositions. The past two decades have seen an explosion of data in the FA field, both in humans and other organisms, following the cloning of 22 FA genes.
Vanessa Tsui, Wayne Crismani
exaly +6 more sources
American Journal of Medical Genetics, 1983
AbstractWe have analyzed chromosome breaks in 8 patients with Fanconi anemia (FA), 42 with “idiopathic” aplastic anema (AA), 15 first‐degree relatives of FA patients, and 13 controls. Their lymphocytes were treated in culture with three concentrations of mitomycin‐C (MMC).
Jaroslav Cervenka +2 more
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AbstractWe have analyzed chromosome breaks in 8 patients with Fanconi anemia (FA), 42 with “idiopathic” aplastic anema (AA), 15 first‐degree relatives of FA patients, and 13 controls. Their lymphocytes were treated in culture with three concentrations of mitomycin‐C (MMC).
Jaroslav Cervenka +2 more
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Archives of Otolaryngology - Head and Neck Surgery, 1970
The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease.
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The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease.
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Cancer in Fanconi Anemia and Fanconi Anemia Genes in Cancer
2007At the cellular level, defects in Fanconi anemia (FA) genes manifest themselves as hypersensitivity to DNA damaging agents which can be assessed by increased chromosome breakage and cell cycle changes. As long-term manifestations of cellular genetic instability, FA patients are at high risk for the development of a rather narrow spectrum of ...
K. Neveling, R. Kalb, D. Schindler
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Archives of Dermatology, 1982
• A 27-year-old man had had Fanconi's anemia (FA) for 20 years. The patient had pancytopenia, retarded growth, hypogonadism, and chromosomal aberrations. He had freckle-like and darker pigmented macules scattered on his chest, shoulders, upper part of the back, and hips, with interspersed, hypopigmented areas.
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• A 27-year-old man had had Fanconi's anemia (FA) for 20 years. The patient had pancytopenia, retarded growth, hypogonadism, and chromosomal aberrations. He had freckle-like and darker pigmented macules scattered on his chest, shoulders, upper part of the back, and hips, with interspersed, hypopigmented areas.
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