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Órgano Oficial del Instituto Nacional de Pediatría

2016, Number 1

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Acta Pediatr Mex 2016; 37 (1)

Multidisciplinary approach of the Fanconi anemia patient

García TB, Rodríguez A, Frías S

Language: Spanish
References: 12
Page: 54-59
PDF size: 796.21 Kb.


Text Extraction

No abstract.


REFERENCES

  1. Hays L, Frohnmayer D, Frohnmayer L, Guinan E, Kennedy T, Larsen K, editors. Fanconi Anemia: Guidelinesfor for Diagnosis and Management. Fourth ed. Eugene: Fanconi Anemia Research Fund; 2014. http://fanconi.org/images/ uploads/other/Spanish_Guidelines_for_web.pdf.

  2. Auerbach AD. Fanconi anemia and its diagnosis. Mutation Research 2009;668:4-10.

  3. Wang AT, Kim T, Wagner JE, Conti BA, Lach FP, Huang AL, Molina H, Sanborn EM, Zierhut H, Cornes BK, Abhyankar A, Sougnez C, Gabriel SB, Auerbach AD, Kowalczykowski AC, Smogorzewska A. A dominant mutation in Human RAD51 reveals its function in DNA interstrand cross link repair independent of homologous recombination. Molecular Cell 2015;59:478-490.

  4. Auerbach AD. Diagnosis of Fanconi Anemia by Diepoxybutane Analysis. Curr Protoc Hum Genet 2015;85:8.7.1-8.7.17.

  5. Sawyer SL, TianL, Kähkönen M, Schwartzentruber J, Kircher M, University of Washington Centre for Mendelian Genomics, FORGE Canada Consortium, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA.Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype. Cancer Discov 2015;5:135-142.

  6. Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A. Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. Cell Reports 2015;12:35–41.

  7. Esmer C, Sánchez S, Ramos S, Molina B, Frias S, and Carnevale A. DEB Test for Fanconi Anemia Detection in Patients With Atypical Phenotypes. Am J Med Genet 2004;124A:35–39.

  8. Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP. Comparison of chromosome brakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bonemar row failure síndromes. Cytogenet Genome Res 2014;144:15-27.

  9. Alter BP and Rosenberg PS. VACTERL-H Association and Fanconi Anemia. Mol Syndromol 2013;4(1-2):87-93.

  10. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia : A report from the international Fanconi anemia registry. Pediatrics 1993;91(6):1116-1120.

  11. Törnquist AL. Martin L, Winiarski J, Fahnehjelm KT. Ocular manifestations and visual functions in patients with Fanconi anaemia. Acta Ophtalmologica 2014;92:171-178.

  12. Shukla P, Ghosh K and Vundinti B. Current and emerging therapeutic strategies for Fanconi anemia. The HUGO journal 2012;6:1.




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