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Seminars in Hematology, 2006
Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure and developmental anomalies; a high incidence of myelodysplasia (MDS), acute nonlymphocytic leukemia (AML), and solid tumors; and cellular hypersensitivity to cross-linking agents. The genetic basis of FA is mutations in any one of the known FA genes.
Grover C, Bagby, Blanche P, Alter
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Fanconi anemia (FA) is a rare hereditary disease characterized by bone marrow failure and developmental anomalies; a high incidence of myelodysplasia (MDS), acute nonlymphocytic leukemia (AML), and solid tumors; and cellular hypersensitivity to cross-linking agents. The genetic basis of FA is mutations in any one of the known FA genes.
Grover C, Bagby, Blanche P, Alter
+6 more sources
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 ...
Samia A. Temtamy +5 more
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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 ...
Samia A. Temtamy +5 more
+6 more sources
New England Journal of Medicine, 1994
To the Editor: We have several comments on the Image in Clinical Medicine entitled “Some Features of Fanconi's Anemia” (Oct. 14 issue)1.
P F, Giampietro +2 more
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To the Editor: We have several comments on the Image in Clinical Medicine entitled “Some Features of Fanconi's Anemia” (Oct. 14 issue)1.
P F, Giampietro +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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Cancer Genetics and Cytogenetics, 2000
Fanconi anemia is a rare autosomal recessive disorder which is characterized with chromosomal fragility and hypersensitivity to DNA cross-link agents. There are large variability in phenotype even among patients of single family. Therefore, diagnosis depends solely on hypersensitivity to DNA cross-link agents.
Blanche P. Alter +5 more
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Fanconi anemia is a rare autosomal recessive disorder which is characterized with chromosomal fragility and hypersensitivity to DNA cross-link agents. There are large variability in phenotype even among patients of single family. Therefore, diagnosis depends solely on hypersensitivity to DNA cross-link agents.
Blanche P. Alter +5 more
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[Rinsho ketsueki] The Japanese journal of clinical hematology, 2001
Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure, increased susceptibility to leukemia and cancer, and genomic instabilities. Protein products encoded by 22 FA genes, identified till date, cooperate in a molecular pathway called the FA pathway to repair DNA interstrand cross-links induced by chemotherapeutic ...
Thomas Pearson +4 more
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Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure, increased susceptibility to leukemia and cancer, and genomic instabilities. Protein products encoded by 22 FA genes, identified till date, cooperate in a molecular pathway called the FA pathway to repair DNA interstrand cross-links induced by chemotherapeutic ...
Thomas Pearson +4 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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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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Nihon rinsho. Japanese journal of clinical medicine, 1978
We have presented a case of Fanconi's anemia in six years old boy hospitalised in our Institute fifteen years ago. Beside hypoplastic pancitopenia, there is a growth retardation (under P3), late skeletal maturity, microcephalia, narrow rimae oculi, hyperpigmentetad skin, congenital abnormalities of both thumbs cryptorchidism, troubled speech ...
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We have presented a case of Fanconi's anemia in six years old boy hospitalised in our Institute fifteen years ago. Beside hypoplastic pancitopenia, there is a growth retardation (under P3), late skeletal maturity, microcephalia, narrow rimae oculi, hyperpigmentetad skin, congenital abnormalities of both thumbs cryptorchidism, troubled speech ...
openaire +3 more sources