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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.
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
A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.
Peelen T, van Vliet M, Petrij-Bosch A, Mieremet R, Szabo C, van den Ouweland AM, Hogervorst F, Brohet R, Ligtenberg MJ, Teugels E, van der Luijt R, van der Hout AH, Gille JJ, Pals G, Jedema I, Olmer R, van Leeuwen I, Newman B, Plandsoen M, van der Est M, Brink G, Hageman S, Arts PJ, Bakker MM, Devilee P, et al. Peelen T, et al. Among authors: pals g. Am J Hum Genet. 1997 May;60(5):1041-9. Am J Hum Genet. 1997. PMID: 9150151 Free PMC article.
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ, Gille JJ, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega JJ, Schuler D, Samochatova E, Karwacki M, Bekassy AN, Abecasis M, Ebell W, Kwee ML, de Ravel T, CG Mathew, et al. Wijker M, et al. Among authors: pals g. Eur J Hum Genet. 1999 Jan;7(1):52-9. doi: 10.1038/sj.ejhg.5200248. Eur J Hum Genet. 1999. PMID: 10094191
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
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
222 results