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Items: 18


FANCJ is essential to maintain microsatellite structure genome-wide during replication stress.

Barthelemy J, Hanenberg H, Leffak M.

Nucleic Acids Res. 2016 Aug 19;44(14):6803-16. doi: 10.1093/nar/gkw433. Epub 2016 May 13. Erratum in: Nucleic Acids Res. 2016 Oct 27;:.


The concept and practice of Fanconi Anemia: from the clinical bedside to the laboratory bench.

Wu ZH.

Transl Pediatr. 2013 Jul;2(3):112-9. doi: 10.3978/j.issn.2224-4336.2013.07.01. Review.


A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report.

Laouina S, El Alaoui SC, Amezian R, Al Bouzidi A, Sefiani A, El Alloussi M.

J Med Case Rep. 2015 Oct 28;9:245. doi: 10.1186/s13256-015-0724-3.


Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood.

Erlacher M, Strahm B.

Front Pediatr. 2015 Jul 13;3:64. doi: 10.3389/fped.2015.00064. eCollection 2015. Review.


Comparison of chromosome breakage in non-mosaic and mosaic patients with Fanconi anemia, relatives, and patients with other inherited bone marrow failure syndromes.

Fargo JH, Rochowski A, Giri N, Savage SA, Olson SB, Alter BP.

Cytogenet Genome Res. 2014;144(1):15-27. doi: 10.1159/000366251. Epub 2014 Sep 11.


High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

Amouri A, Talmoudi F, Messaoud O, d'Enghien CD, Rekaya MB, Allegui I, Azaiez H, Kefi R, Abdelhak A, Meseddi SH, Torjemane L, Ouederni M, Mellouli F, Abid HB, Aissaoui L, Bejaoui M, Othmen TB, Lyonnet DS, Soulier J, Hachicha M, Dellagi K, Abdelhak S, Fanconi T.

Mol Genet Genomic Med. 2014 Mar;2(2):160-5. doi: 10.1002/mgg3.55. Epub 2014 Feb 5.


Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.

Knies K, Schuster B, Ameziane N, Rooimans M, Bettecken T, de Winter J, Schindler D.

PLoS One. 2012;7(12):e52648. doi: 10.1371/journal.pone.0052648. Epub 2012 Dec 20.


Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

Fargo JH, Kratz CP, Giri N, Savage SA, Wong C, Backer K, Alter BP, Glader B.

Br J Haematol. 2013 Feb;160(4):547-54. doi: 10.1111/bjh.12167. Epub 2012 Dec 17.


Clinical geneticists' views of VACTERL/VATER association.

Solomon BD, Bear KA, Kimonis V, de Klein A, Scott DA, Shaw-Smith C, Tibboel D, Reutter H, Giampietro PF.

Am J Med Genet A. 2012 Dec;158A(12):3087-100. doi: 10.1002/ajmg.a.35638. Epub 2012 Nov 19. Review.


The prognostic value of p53 mutation in pediatric marrow hypoplasia.

Abo-Elwafa HA, Attia FM, Sharaf AE.

Diagn Pathol. 2011 Jun 30;6:58. doi: 10.1186/1746-1596-6-58.


Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS.

Br J Haematol. 2010 Jul;150(2):179-88. doi: 10.1111/j.1365-2141.2010.08212.x. Epub 2010 Apr 30.


Ectopic HOXB4 overcomes the inhibitory effect of tumor necrosis factor-{alpha} on Fanconi anemia hematopoietic stem and progenitor cells.

Milsom MD, Schiedlmeier B, Bailey J, Kim MO, Li D, Jansen M, Ali AM, Kirby M, Baum C, Fairbairn LJ, Williams DA.

Blood. 2009 May 21;113(21):5111-20. doi: 10.1182/blood-2008-09-180224. Epub 2009 Mar 6.


Loss of homologous recombination or non-homologous end-joining leads to radial formation following DNA interstrand crosslink damage.

Hanlon Newell AE, Hemphill A, Akkari YM, Hejna J, Moses RE, Olson SB.

Cytogenet Genome Res. 2008;121(3-4):174-80. doi: 10.1159/000138882. Epub 2008 Aug 28.


DOG-1 is the Caenorhabditis elegans BRIP1/FANCJ homologue and functions in interstrand cross-link repair.

Youds JL, Barber LJ, Ward JD, Collis SJ, O'Neil NJ, Boulton SJ, Rose AM.

Mol Cell Biol. 2008 Mar;28(5):1470-9. Epub 2007 Dec 17.


Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.

Grant SG, Wenger SL, Latimer JJ, Thull D, Burke LW.

Clin Genet. 2000 Sep;58(3):209-15.


A locus for Fanconi anemia on 16q determined by homozygosity mapping.

Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander PC, Shen S, Faure S, Weissenbach J, Altay C, Lander ES, Auerbach AD, Botstein D.

Am J Hum Genet. 1996 Aug;59(2):377-84.


The identification of fanconi anemia genotypes by clastogenic stress.

Cohen MM, Simpson SJ, Honig GR, Maurer HS, Nicklas JW, Martin AO.

Am J Hum Genet. 1982 Sep;34(5):794-810.

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