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Items: 1 to 20 of 186

1.

A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.

Lee HJ, Park S, Kang HJ, Jun JK, Lee JA, Lee DS, Park SS, Seong MW.

Ann Lab Med. 2012 Sep;32(5):380-4. doi: 10.3343/alm.2012.32.5.380. Epub 2012 Aug 13.

2.

FANCA and FANCG are the major Fanconi anemia genes in the Korean population.

Park J, Chung NG, Chae H, Kim M, Lee S, Kim Y, Lee JW, Cho B, Jeong DC, Park IY.

Clin Genet. 2013 Sep;84(3):271-5. doi: 10.1111/cge.12042.

PMID:
23067021
3.

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs.

Tamary H, Dgany O, Toledano H, Shalev Z, Krasnov T, Shalmon L, Schechter T, Bercovich D, Attias D, Laor R, Koren A, Yaniv I.

Eur J Haematol. 2004 May;72(5):330-5.

PMID:
15059067
4.

Identification of a novel large intragenic deletion in a family with Fanconi anemia: first molecular report from India and review of literature.

Shukla P, Rao A, Ghosh K, Vundinti BR.

Gene. 2013 Apr 15;518(2):470-5. doi: 10.1016/j.gene.2013.01.016. Epub 2013 Jan 29.

PMID:
23370339
5.

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, Flynn E, Sen SK, Thongthip S, Sanborn E, Smogorzewska A, Auerbach AD, Ostrander EA; NISC Comparative Sequencing Program.

Blood. 2013 May 30;121(22):e138-48. doi: 10.1182/blood-2012-12-474585. Epub 2013 Apr 23.

6.

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.

Yagasaki H, Hamanoue S, Oda T, Nakahata T, Asano S, Yamashita T.

Hum Mutat. 2004 Dec;24(6):481-90.

PMID:
15523645
7.

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

Levran O, Diotti R, Pujara K, Batish SD, Hanenberg H, Auerbach AD.

Hum Mutat. 2005 Feb;25(2):142-9.

PMID:
15643609
8.

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

de Winter JP, van der Weel L, de Groot J, Stone S, Waisfisz Q, Arwert F, Scheper RJ, Kruyt FA, Hoatlin ME, Joenje H.

Hum Mol Genet. 2000 Nov 1;9(18):2665-74.

PMID:
11063725
9.

Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

Park J, Kim M, Jang W, Chae H, Kim Y, Chung NG, Lee JW, Cho B, Jeong DC, Park IY, Park MS.

Ann Hum Genet. 2015 May;79(3):153-61. doi: 10.1111/ahg.12097. Epub 2015 Feb 20.

10.

Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

Adachi D, Oda T, Yagasaki H, Nakasato K, Taniguchi T, D'Andrea AD, Asano S, Yamashita T.

Hum Mol Genet. 2002 Dec 1;11(25):3125-34.

PMID:
12444097
11.

[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].

Gong Z, Yu Y, Zhang Q, Gu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):204-7. doi: 10.3760/cma.j.issn.1003-9406.2015.02.011. Chinese.

PMID:
25863087
12.

Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg.

van de Vrugt HJ, Koomen M, Bakker S, Berns MA, Cheng NC, van der Valk MA, de Vries Y, Rooimans MA, Oostra AB, Hoatlin ME, Te Riele H, Joenje H, Arwert F.

DNA Repair (Amst). 2011 Dec 10;10(12):1252-61. doi: 10.1016/j.dnarep.2011.09.015. Epub 2011 Oct 28.

PMID:
22036606
13.

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Bouchlaka C, Abdelhak S, Amouri A, Ben Abid H, Hadiji S, Frikha M, Ben Othman T, Amri F, Ayadi H, Hachicha M, Rebaï A, Saad A, Dellagi K; Tunisian Fanconi Anemia Study Group.

J Hum Genet. 2003;48(7):352-61. Epub 2003 Jun 24.

PMID:
12827451
14.

A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.

Solomon PJ, Margaret P, Rajendran R, Ramalingam R, Menezes GA, Shirley AS, Lee SJ, Seong MW, Park SS, Seol D, Seo SH.

Ital J Pediatr. 2015 May 8;41:38. doi: 10.1186/s13052-015-0142-6. Review.

15.

Investigation of Fanconi anemia protein interactions by yeast two-hybrid analysis.

Huber PA, Medhurst AL, Youssoufian H, Mathew CG.

Biochem Biophys Res Commun. 2000 Feb 5;268(1):73-7.

PMID:
10652215
16.

Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9.

Nakanishi K, Moran A, Hays T, Kuang Y, Fox E, Garneau D, Montes de Oca R, Grompe M, D'Andrea AD.

Exp Hematol. 2001 Jul;29(7):842-9.

PMID:
11438206
17.

Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems.

Gordon SM, Buchwald M.

Blood. 2003 Jul 1;102(1):136-41. Epub 2003 Mar 20.

18.

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.

19.

Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system.

Reuter T, Herterich S, Bernhard O, Hoehn H, Gross HJ.

Blood. 2000 Jan 15;95(2):719-20.

20.

Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients.

Callén E, Tischkowitz MD, Creus A, Marcos R, Bueren JA, Casado JA, Mathew CG, Surrallés J.

Cytogenet Genome Res. 2004;104(1-4):341-5.

PMID:
15162062

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