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Items: 1 to 20 of 117

1.

The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations.

Myers K, Davies SM, Harris RE, Spunt SL, Smolarek T, Zimmerman S, McMasters R, Wagner L, Mueller R, Auerbach AD, Mehta PA.

Pediatr Blood Cancer. 2012 Mar;58(3):462-5. doi: 10.1002/pbc.23168. Epub 2011 May 5.

PMID:
21548014
2.

Genetic reversion in an acute myelogenous leukemia cell line from a Fanconi anemia patient with biallelic mutations in BRCA2.

Ikeda H, Matsushita M, Waisfisz Q, Kinoshita A, Oostra AB, Nieuwint AW, De Winter JP, Hoatlin ME, Kawai Y, Sasaki MS, D'Andrea AD, Kawakami Y, Joenje H.

Cancer Res. 2003 May 15;63(10):2688-94.

3.

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

Wagner JE, Tolar J, Levran O, Scholl T, Deffenbaugh A, Satagopan J, Ben-Porat L, Mah K, Batish SD, Kutler DI, MacMillan ML, Hanenberg H, Auerbach AD.

Blood. 2004 Apr 15;103(8):3226-9. Epub 2004 Jan 8.

4.

Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.

Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J, Stones D, Kwee ML, van Weel-Sipman M, Havenga C, Morgan N, de Winter J, Digweed M, Savoia A, Pronk J, de Ravel T, Jansen S, Joenje H, Gluckman E, Mathew CG.

Blood. 2000 Dec 15;96(13):4064-70.

5.

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Degrolard-Courcet E, Sokolowska J, Padeano MM, Guiu S, Bronner M, Chery C, Coron F, Lepage C, Chapusot C, Loustalot C, Jouve JL, Hatem C, Ferrant E, Martin L, Coutant C, Baurand A, Couillault G, Delignette A, El Chehadeh S, Lizard S, Arnould L, Fumoleau P, Callier P, Mugneret F, Philippe C, Frebourg T, Jonveaux P, Faivre L.

Eur J Hum Genet. 2014 Aug;22(8):979-87. doi: 10.1038/ejhg.2013.278. Epub 2013 Dec 4. Review.

6.

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.

Science. 2002 Jul 26;297(5581):606-9. Epub 2002 Jun 13.

7.

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

Alter BP, Rosenberg PS, Brody LC.

J Med Genet. 2007 Jan;44(1):1-9. Epub 2006 Jul 6.

8.

Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.

Hussain S, Witt E, Huber PA, Medhurst AL, Ashworth A, Mathew CG.

Hum Mol Genet. 2003 Oct 1;12(19):2503-10. Epub 2003 Aug 5.

PMID:
12915460
9.

Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.

Meyer S, Fergusson WD, Whetton AD, Moreira-Leite F, Pepper SD, Miller C, Saunders EK, White DJ, Will AM, Eden T, Ikeda H, Ullmann R, Tuerkmen S, Gerlach A, Klopocki E, Tönnies H.

Genes Chromosomes Cancer. 2007 Apr;46(4):359-72.

PMID:
17243162
10.

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

Hirsch B, Shimamura A, Moreau L, Baldinger S, Hag-alshiekh M, Bostrom B, Sencer S, D'Andrea AD.

Blood. 2004 Apr 1;103(7):2554-9. Epub 2003 Dec 11.

11.

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.

Houghtaling S, Timmers C, Noll M, Finegold MJ, Jones SN, Meyn MS, Grompe M.

Genes Dev. 2003 Aug 15;17(16):2021-35. Epub 2003 Jul 31.

12.

A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations.

Meyer S, Fergusson WD, Oostra AB, Medhurst AL, Waisfisz Q, de Winter JP, Chen F, Carr TF, Clayton-Smith J, Clancy T, Green M, Barber L, Eden OB, Will AM, Joenje H, Taylor GM.

Genes Chromosomes Cancer. 2005 Apr;42(4):404-15.

PMID:
15645491
13.

Fanconi anemia and solid malignancies in childhood: a national retrospective study.

Malric A, Defachelles AS, Leblanc T, Lescoeur B, Lacour B, Peuchmaur M, Maurage CA, Pierron G, Guillemot D, d'Enghien CD, Soulier J, Stoppa-Lyonnet D, Bourdeaut F.

Pediatr Blood Cancer. 2015 Mar;62(3):463-70. doi: 10.1002/pbc.25303. Epub 2014 Nov 8.

PMID:
25381700
14.

Cellular characterization of cells from the Fanconi anemia complementation group, FA-D1/BRCA2.

Godthelp BC, van Buul PP, Jaspers NG, Elghalbzouri-Maghrani E, van Duijn-Goedhart A, Arwert F, Joenje H, Zdzienicka MZ.

Mutat Res. 2006 Oct 10;601(1-2):191-201. Epub 2006 Aug 21.

PMID:
16920162
15.

Hematopoietic dysfunction in a mouse model for Fanconi anemia group D1.

Navarro S, Meza NW, Quintana-Bustamante O, Casado JA, Jacome A, McAllister K, Puerto S, Surrallés J, Segovia JC, Bueren JA.

Mol Ther. 2006 Oct;14(4):525-35. Epub 2006 Jul 20.

16.

The role of Fanconi anemia/BRCA genes in zebrafish sex determination.

Rodríguez-Marí A, Postlethwait JH.

Methods Cell Biol. 2011;105:461-90. doi: 10.1016/B978-0-12-381320-6.00020-5.

PMID:
21951543
17.

Breast cancer and Fanconi anemia: what are the connections?

Zdzienicka MZ, Arwert F.

Trends Mol Med. 2002 Oct;8(10):458-60.

PMID:
12383764
18.

Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development.

Koren-Michowitz M, Friedman E, Gershoni-Baruch R, Brok-Simoni F, Patael Y, Rechavi G, Amariglio N.

Am J Hematol. 2005 Mar;78(3):203-6.

19.

Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.

Popp H, Kalb R, Fischer A, Lobitz S, Kokemohr I, Hanenberg H, Schindler D.

Cytogenet Genome Res. 2003;103(1-2):54-7.

PMID:
15004464
20.

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD.

J Natl Cancer Inst. 2003 Oct 15;95(20):1548-51.

PMID:
14559878

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