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Items: 1 to 20 of 332

1.

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
2.

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
3.

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

Auerbach AD, Greenbaum J, Pujara K, Batish SD, Bitencourt MA, Kokemohr I, Schneider H, Lobitzc S, Pasquini R, Giampietro PF, Hanenberg H, Levran O; International Fanconi Anemia Registry.

Hum Mutat. 2003 Feb;21(2):158-68. Erratum in: Hum Mutat. 2003 Sep;22(3):255.

PMID:
12552564
4.

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
5.

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
6.

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.

7.

Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant.

Savino M, Borriello A, D'Apolito M, Criscuolo M, Del Vecchio M, Bianco AM, Di Perna M, Calzone R, Nobili B, Zatterale A, Zelante L, Joenje H, Della Ragione F, Savoia A.

Hum Mutat. 2003 Oct;22(4):338-9.

PMID:
12955722
8.

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J.

Blood. 2005 Mar 1;105(5):1946-9. Epub 2004 Nov 2. Erratum in: Blood. 2005 May 1;105(9):3404.

9.

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.

Tachibana A, Kato T, Ejima Y, Yamada T, Shimizu T, Yang L, Tsunematsu Y, Sasaki MS.

Hum Mutat. 1999;13(3):237-44.

PMID:
10090479
10.

Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

Yamada T, Tachibana A, Shimizu T, Mugishima H, Okubo M, Sasaki MS.

J Hum Genet. 2000;45(3):159-66.

PMID:
10807541
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.

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
13.

The molecular biology of Fanconi anemia.

Tamary H, Bar-Yam R, Zemach M, Dgany O, Shalmon L, Yaniv I.

Isr Med Assoc J. 2002 Oct;4(10):819-23.

14.

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
15.

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
16.

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
17.

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
18.

Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

Levran O, Doggett NA, Auerbach AD.

Hum Mutat. 1998;12(3):145-52.

PMID:
9711872
19.

A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.

Kupfer G, Naf D, Garcia-Higuera I, Wasik J, Cheng A, Yamashita T, Tipping A, Morgan N, Mathew CG, D'Andrea AD.

Exp Hematol. 1999 Apr;27(4):587-93.

PMID:
10210316
20.

Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary.

van de Vrugt HJ, Cheng NC, de Vries Y, Rooimans MA, de Groot J, Scheper RJ, Zhi Y, Hoatlin ME, Joenje H, Arwert F.

Mamm Genome. 2000 Apr;11(4):326-31.

PMID:
10754110

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