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fanconi
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Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102548
EISBN: 978-3-318-01461-7
... Abstract At the cellular level, defects in Fanconi anemia (FA) genes manifest themselves ashypersensitivity to DNA damaging agents which can be assessed by increased chromosomebreakage and cell cycle changes. As long-term manifestations of cellular genetic instability,FA patients are at high...
Book Chapter
Series: Contributions to Nephrology
Volume: 169
Published: 14 January 2011
10.1159/000313962
EISBN: 978-3-8055-9538-4
... Abstract Renal Fanconi syndrome (FS) is a generalized dysfunction of proximal tubular epithelial cells leading to the urinary leak of essential metabolites like phosphate, uric acid, glucose, amino acids and low molecular weight proteins. From inherited forms involving mutations on apparently...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102542
EISBN: 978-3-318-01461-7
... Abstract In a field that embraces multiple aspects of both clinical and basic research and thatmoves impressively fast, any answers to the questions why, what and how can we learn froma rare disease like Fanconi anemia (FA) must remain tentative and preliminary. However,there are very...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102545
EISBN: 978-3-318-01461-7
... Abstract We present the clinical case histories of 7 patients with Fanconi Anemia (FA) in orderto illustrate the widely divergent phenotypes and clinical courses of the disease. Moreover,these case histories demonstrate that androgen therapy and hematopoietic stem cell transplantationare...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102546
EISBN: 978-3-318-01461-7
... Abstract The recessive disease Fanconi anemia (FA) is a prototype chromosome instability syndromewhich shows a high level of spontaneous and induced chromosomal aberrations incombination with a significantly increased cancer risk. Thus, the underlying defect must bedirectly or indirectly...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102547
EISBN: 978-3-318-01461-7
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102549
EISBN: 978-3-318-01461-7
... Abstract Fanconi anemia patients have a high risk for bone marrow failure, aplastic anemia,myelodysplastic syndrome, and acute myeloid leukemia. Many FA patients acquire chromosomalaberrations in their bone marrow (BM) cells. The significance and predictive value ofthese somatic aberrations...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102552
EISBN: 978-3-318-01461-7
... Abstract Chromosome breakage analysis following exposure of cultured cells to DNAcrosslinkingagents has long been considered the ‘gold standard’ for the confirmation orexclusion of Fanconi anemia (FA). Cells containing DNA damage are arrested and accumulate,with a 4c DNA content, near the S/G2...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102553
EISBN: 978-3-318-01461-7
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102554
EISBN: 978-3-318-01461-7
... Abstract One out of four to five patients with Fanconi anemia experience a reversion or attenuationof their constitutional mutations during their lifetime. If the reversion event takes placein a bone marrow stem cell or in an early precursor cell of hematopoiesis, peripheral bloodcell counts...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102555
EISBN: 978-3-318-01461-7
... Abstract Bone marrow transplantation from an HLA-identical sibling donor is the treatment ofchoice for Fanconi anemia (FA) patients with bone marrow failure. However, with today’ssmall size families less than 25% of FA patients have a matching sibling donor. The remainingpatients can be treated...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102556
EISBN: 978-3-318-01461-7
... Abstract Orthologs of the human Fanconi anemia (FANC) genes have been identified in severalvertebrate and invertebrate model organisms, indicating variously conserved functions of theFANC protein complex. In particular, the analysis of chicken DT40 cells has made importantcontributions...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102558
EISBN: 978-3-318-01461-7
... Abstract Cells from patients suffering from the recessive syndrome Fanconi anemia (FA), arecharacterized by increased sensitivity to agents that induce DNA interstrand cross-links(ICLs). This hypersensitivity manifests as a dramatically elevated rate of chromosomebreaks in FA cells when...
Book Chapter
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/000102559
EISBN: 978-3-318-01461-7
Book
Series: Monographs in Human Genetics
Volume: 15
Published: 15 May 2007
10.1159/isbn.978-3-318-01461-7
EISBN: 978-3-318-01461-7
Book Chapter
Book: Genome and Disease
Series: Genome Dynamics
Volume: 1
Published: 27 March 2006
10.1159/000092510
EISBN: 978-3-318-01290-3
... Abstract Fanconi anemia (FA) is a rare recessive disease that reflects the cellular and phenotypicconsequences of genetic instability: growth retardation, congenital malformations, bone marrowfailure, high risk of neoplasia, and premature aging. At the cellular level, manifestationsof genetic...
Book Chapter
Book: Proteomics in Nephrology
Series: Contributions to Nephrology
Volume: 141
Published: 28 October 2003
10.1159/000074596
EISBN: 978-3-318-01014-5
Book Chapter
Book: Hereditary Cancer: 2nd International Research Conference on Familial Cancer, Basel, September 1995
Published: 02 October 1996
10.1159/000425569
EISBN: 978-3-318-04757-8
Book Chapter
Book: Hereditary Cancer: 2nd International Research Conference on Familial Cancer, Basel, September 1995
Published: 02 October 1996
10.1159/000425570
EISBN: 978-3-318-04757-8
Book Chapter
Book: Molecular Aspects of Ammoniagenesis: 5th International Workshop on Ammoniagenesis, Tokyo, July 1990
Series: Contributions to Nephrology
Volume: 92
Published: 02 October 1991
10.1159/000420082
EISBN: 978-3-318-03356-4
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