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Items: 1 to 20 of 246

1.

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Zheng Z, Geng J, Yao RE, Li C, Ying D, Shen Y, Ying L, Yu Y, Fu Q.

Gene. 2013 Nov 10;530(2):295-300. doi: 10.1016/j.gene.2013.08.031. Epub 2013 Aug 22.

PMID:
23973728
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 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
4.

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.

5.

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
6.

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

Moghrabi NN, Johnson MA, Yoshitomi MJ, Zhu X, Al-Dhalimy MJ, Olson SB, Grompe M, Richards CS.

Genet Med. 2009 Mar;11(3):183-92. doi: 10.1097/GIM.0b013e318193ba67.

PMID:
19367192
7.

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.

8.

Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients.

Chang L, Yuan W, Zeng H, Zhou Q, Wei W, Zhou J, Li M, Wang X, Xu M, Yang F, Yang Y, Cheng T, Zhu X.

BMC Med Genomics. 2014 May 15;7:24. doi: 10.1186/1755-8794-7-24.

9.

Investigation of FANCA mutations in Greek patients.

Selenti N, Sofocleous C, Kattamis A, Kolialexi A, Kitsiou S, Fryssira E, Polychronopoulou S, Kanavakis E, Mavrou A.

Anticancer Res. 2013 Aug;33(8):3369-74.

PMID:
23898106
10.

Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.

Yamashita T, Nakahata T.

Int J Hematol. 2001 Jul;74(1):33-41. Review.

PMID:
11530803
11.

[FANCA gene mutation analysis in Fanconi anemia patients].

Chen F, Peng GJ, Zhang K, Hu Q, Zhang LQ, Liu AG.

Zhonghua Xue Ye Xue Za Zhi. 2005 Oct;26(10):616-8. Chinese.

PMID:
16532972
12.

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.

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.

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J.

Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27.

15.

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.

16.

Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP.

Schuster B, Knies K, Stoepker C, Velleuer E, Friedl R, Gottwald-Mühlhauser B, de Winter JP, Schindler D.

Hum Mutat. 2013 Jan;34(1):93-6. doi: 10.1002/humu.22221. Epub 2012 Oct 16.

PMID:
23033263
17.

Fanconi anemia group A and C double-mutant mice: functional evidence for a multi-protein Fanconi anemia complex.

Noll M, Battaile KP, Bateman R, Lax TP, Rathbun K, Reifsteck C, Bagby G, Finegold M, Olson S, Grompe M.

Exp Hematol. 2002 Jul;30(7):679-88.

PMID:
12135664
18.

Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells.

Siddique MA, Nakanishi K, Taniguchi T, Grompe M, D'Andrea AD.

Exp Hematol. 2001 Dec;29(12):1448-55.

PMID:
11750104
19.

Fanconi anemia founder mutation in Macedonian patients.

Madjunkova S, Kocheva SA, Plaseska-Karanfilska D.

Acta Haematol. 2014;132(1):15-21. doi: 10.1159/000355191. Epub 2013 Dec 13.

PMID:
24356203
20.

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.

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