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222 results

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Page 1
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, de Winter JP. Xia B, et al. Among authors: pals g. Nat Genet. 2007 Feb;39(2):159-61. doi: 10.1038/ng1942. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200672
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. Levitus M, et al. Among authors: pals g. Nat Genet. 2005 Sep;37(9):934-5. doi: 10.1038/ng1625. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116423
X-linked inheritance of Fanconi anemia complementation group B.
Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H. Meetei AR, et al. Among authors: pals g. Nat Genet. 2004 Nov;36(11):1219-24. doi: 10.1038/ng1458. Epub 2004 Oct 24. Nat Genet. 2004. PMID: 15502827
Identification of the Fanconi anemia complementation group I gene, FANCI.
Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H. Dorsman JC, et al. Among authors: pals g. Cell Oncol. 2007;29(3):211-8. doi: 10.1155/2007/151968. Cell Oncol. 2007. PMID: 17452773 Free PMC article.
Biallelic inactivation of BRCA2 in Fanconi anemia.
Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Howlett NG, et al. Among authors: pals g. Science. 2002 Jul 26;297(5581):606-9. doi: 10.1126/science.1073834. Epub 2002 Jun 13. Science. 2002. PMID: 12065746
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H. Lo Ten Foe JR, et al. Among authors: pals g. Nat Genet. 1996 Nov;14(3):320-3. doi: 10.1038/ng1196-320. Nat Genet. 1996. PMID: 8896563
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D. Kalb R, et al. Among authors: pals g. Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6. Am J Hum Genet. 2007. PMID: 17436244 Free PMC article.
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H. Foe JR, et al. Among authors: pals g. Nat Genet. 1996 Dec;14(4):488. doi: 10.1038/ng1296-488. Nat Genet. 1996. PMID: 8944034 No abstract available.
222 results