251 related articles for article (PubMed ID: 25168418)
1. Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
Flynn EK; Kamat A; Lach FP; Donovan FX; Kimble DC; Narisu N; Sanborn E; Boulad F; Davies SM; Gillio AP; Harris RE; MacMillan ML; Wagner JE; Smogorzewska A; Auerbach AD; Ostrander EA; Chandrasekharappa SC
Hum Mutat; 2014 Nov; 35(11):1342-53. PubMed ID: 25168418
[TBL] [Abstract][Full Text] [Related]
2. 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;
Blood; 2013 May; 121(22):e138-48. PubMed ID: 23613520
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15059067
[TBL] [Abstract][Full Text] [Related]
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;
J Hum Genet; 2003; 48(7):352-61. PubMed ID: 12827451
[TBL] [Abstract][Full Text] [Related]
5. 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; 11(25):3125-34. PubMed ID: 12444097
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15523645
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 15643609
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 12135664
[TBL] [Abstract][Full Text] [Related]
9. A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Kimble DC; Lach FP; Gregg SQ; Donovan FX; Flynn EK; Kamat A; Young A; Vemulapalli M; Thomas JW; Mullikin JC; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
Hum Mutat; 2018 Feb; 39(2):237-254. PubMed ID: 29098742
[TBL] [Abstract][Full Text] [Related]
10. Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.
Levran O; Doggett NA; Auerbach AD
Hum Mutat; 1998; 12(3):145-52. PubMed ID: 9711872
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 15162062
[TBL] [Abstract][Full Text] [Related]
12. A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M; Solanki A; Chavan N; Rajendran A; Raj R; Mohan S; Nemani S; Kanvinde S; Munirathnam D; Rao S; Radhakrishnan N; Lashkari HP; Ghildhiyal RG; Manglani M; Shanmukhaiah C; Bhat S; Ramesh S; Cherian A; Junagade P; Vundinti BR
Hum Mutat; 2021 Dec; 42(12):1648-1665. PubMed ID: 34585473
[TBL] [Abstract][Full Text] [Related]
13. High frequency of large intragenic deletions in the Fanconi anemia group A gene.
Morgan NV; Tipping AJ; Joenje H; Mathew CG
Am J Hum Genet; 1999 Nov; 65(5):1330-41. PubMed ID: 10521298
[TBL] [Abstract][Full Text] [Related]
14. Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
De Rocco D; Bottega R; Cappelli E; Cavani S; Criscuolo M; Nicchia E; Corsolini F; Greco C; Borriello A; Svahn J; Pillon M; Mecucci C; Casazza G; Verzegnassi F; Cugno C; Locasciulli A; Farruggia P; Longoni D; Ramenghi U; Barberi W; Tucci F; Perrotta S; Grammatico P; Hanenberg H; Della Ragione F; Dufour C; Savoia A;
Haematologica; 2014 Jun; 99(6):1022-31. PubMed ID: 24584348
[TBL] [Abstract][Full Text] [Related]
15. Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Chandrasekharappa SC; Chinn SB; Donovan FX; Chowdhury NI; Kamat A; Adeyemo AA; Thomas JW; Vemulapalli M; Hussey CS; Reid HH; Mullikin JC; Wei Q; Sturgis EM
Cancer; 2017 Oct; 123(20):3943-3954. PubMed ID: 28678401
[TBL] [Abstract][Full Text] [Related]
16. 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; 9(18):2665-74. PubMed ID: 11063725
[TBL] [Abstract][Full Text] [Related]
17. Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Asur RS; Kimble DC; Lach FP; Jung M; Donovan FX; Kamat A; Noonan RJ; Thomas JW; Park M; Chines P; Vlachos A; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
Mol Genet Genomic Med; 2018 Jan; 6(1):77-91. PubMed ID: 29193904
[TBL] [Abstract][Full Text] [Related]
18. Association of clinical severity with FANCB variant type in Fanconi anemia.
Jung M; Ramanagoudr-Bhojappa R; van Twest S; Rosti RO; Murphy V; Tan W; Donovan FX; Lach FP; Kimble DC; Jiang CS; Vaughan R; Mehta PA; Pierri F; Dufour C; Auerbach AD; Deans AJ; Smogorzewska A; Chandrasekharappa SC
Blood; 2020 Apr; 135(18):1588-1602. PubMed ID: 32106311
[TBL] [Abstract][Full Text] [Related]
19. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M; Hira A; Yoshida K; Muramatsu H; Okuno Y; Shiraishi Y; Anmae M; Yasuda J; Tadaka S; Kinoshita K; Osumi T; Noguchi Y; Adachi S; Kobayashi R; Kawabata H; Imai K; Morio T; Tamura K; Takaori-Kondo A; Yamamoto M; Miyano S; Kojima S; Ito E; Ogawa S; Matsuo K; Yabe H; Yabe M; Takata M
Haematologica; 2019 Oct; 104(10):1962-1973. PubMed ID: 30792206
[TBL] [Abstract][Full Text] [Related]
20. Molecular spectra of HPRT deletion mutations in circulating T-lymphocytes in Fanconi anemia patients.
Laquerbe A; Sala-Trepat M; Vives C; Escarceller M; Papadopoulo D
Mutat Res; 1999 Dec; 431(2):341-50. PubMed ID: 10635999
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]