Výsledky vyhledávání - "P C, Verlander"

Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study

Autor: A P, Gillio, P C, Verlander, S D, Batish, P F, Giampietro, A D, Auerbach

Publikováno v: Blood. 90(1)

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder defined by cellular hypersensitivity to DNA cross-linking agents; mutations in the gene defective in FA complementation group C, FAC, are responsible for the syndrome in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b332a36a8ca36f336cd7f46afa790bf
https://pubmed.ncbi.nlm.nih.gov/9207444

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Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study

Autor: P F, Giampietro, P C, Verlander, J G, Davis, A D, Auerbach

Publikováno v: American journal of medical genetics. 68(1)

Data were analyzed from 419 Fanconi anemia (FA) patients enrolled in the American Registry of the International Fanconi Anemia Registry (IFAR) to determine whether Fanconi anemia (FA) patients without major congenital malformations (CM) have distingu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::04c8205b6944833a5702d3ecc4692a18
https://pubmed.ncbi.nlm.nih.gov/8986277

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Carrier frequency of the IVS4 + 4 A--T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

Autor: P C, Verlander, A, Kaporis, Q, Liu, Q, Zhang, U, Seligsohn, A D, Auerbach

Publikováno v: Blood. 86(11)

Fanconi anemia (FA) is a genetically and phenotypically heterogeneous autosomal recessive disorder defined by a cellular hypersensitivity to DNA cross-linking agents. One of the FA genes, FAC, has been cloned and the genomic structure of the coding r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6d5eb5447603eda9f79a745acdcb4cd4
https://pubmed.ncbi.nlm.nih.gov/7492758

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Identification of cytosolic proteins that bind to the Fanconi anemia complementation group C polypeptide in vitro. Evidence for a multimeric complex

Autor: H, Youssoufian, A D, Auerbach, P C, Verlander, V, Steimle, B, Mach

Publikováno v: The Journal of biological chemistry. 270(17)

The oligomeric structure of Fanconi anemia complementation group C (FACC) was investigated in mammalian cell lysates. Using an affinity-purified polyclonal antibody, FACC was immunoprecipitated from radiolabeled cell lysates and shown to form monomer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b0f33b32b3244d1458e5c6084a20844
https://pubmed.ncbi.nlm.nih.gov/7730370

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Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study

Autor: A, Butturini, R P, Gale, P C, Verlander, B, Adler-Brecher, A P, Gillio, A D, Auerbach

Publikováno v: Blood. 84(5)

We analyzed data from 388 subjects with Fanconi anemia reported to the International Fanconi Anemia Registry (IFAR). Of those, 332 developed hematologic abnormalities at a median age of 7 years (range, birth to 31 years). Actuarial risk of developing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e52e8005953c20d0cdc62dafa1869d50
https://pubmed.ncbi.nlm.nih.gov/7849307

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Mutation analysis of the Fanconi anemia gene FACC

Autor: P C, Verlander, J D, Lin, M U, Udono, Q, Zhang, R A, Gibson, C G, Mathew, A D, Auerbach

Publikováno v: American journal of human genetics. 54(4)

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disorder characterized by a unique hypersensitivity of cells to DNA cross-linking agents; a gene for complementation group C (FACC) has recently been cloned. We have amplified FAC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6f42271ff6de1532a6f35e660af49b4a
https://pubmed.ncbi.nlm.nih.gov/8128956

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The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry

Autor: P F, Giampietro, B, Adler-Brecher, P C, Verlander, S G, Pavlakis, J G, Davis, A D, Auerbach

Publikováno v: Pediatrics. 91(6)

The objective of this study was to address the need for early diagnosis of Fanconi anemia (FA), an autosomal recessive chromosomal instability syndrome characterized by a unique cellular hypersensitivity to DNA cross-linking agents, such as diepoxybu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c5cee3eef4b48b7e8d8a5f5b9237eb22
https://pubmed.ncbi.nlm.nih.gov/8502512

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