Terms: = Bone cancer AND FANCA, MGC75158, 2175, ENSG00000187741, FA-H, FA, FAA, FANCH, FA1, FACA AND Diagnosis
89 results:
1. Germline biallelic BRCA2 pathogenic variants and medulloblastoma: an international cohort study.
Kastellan S; Kalb R; Sajjad B; McReynolds LJ; Giri N; Samuel D; Milde T; Elbracht M; Holzhauer S; Niewisch MR; Kratz CP
J Hematol Oncol; 2024 Apr; 17(1):26. PubMed ID: 38685107
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2. Identification of a robust DNA methylation signature for Fanconi anemia.
Pagliara D; Ciolfi A; Pedace L; Haghshenas S; Ferilli M; Levy MA; Miele E; Nardini C; Cappelletti C; Relator R; Pitisci A; De Vito R; Pizzi S; Kerkhof J; McConkey H; Nazio F; Kant SG; Di Donato M; Agolini E; Matraxia M; Pasini B; Pelle A; Galluccio T; Novelli A; Barakat TS; Andreani M; Rossi F; Mecucci C; Savoia A; Sadikovic B; Locatelli F; Tartaglia M
Am J Hum Genet; 2023 Nov; 110(11):1938-1949. PubMed ID: 37865086
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3. T-cell depleted allogeneic hematopoietic stem cell transplant for the treatment of Fanconi anemia and MDS/AML.
Satty AM; Klein E; Mauguen A; Kunvarjee B; Boelens JJ; Cancio M; Curran KJ; Kernan NA; Prockop SE; Scaradavou A; Spitzer B; Tamari R; Ruggiero J; Torok-Castanza J; Mehta PA; O'Reilly RJ; Boulad F
Bone Marrow Transplant; 2024 Jan; 59(1):23-33. PubMed ID: 37773270
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4. Fanconi anemia-isogenic head and neck cancer cell line pairs: A basic and translational science resource.
Nguyen HT; Tang W; Webster ALH; Whiteaker JR; Chandler CM; Errazquin R; Roohollahi K; Fritzke M; Hoskins EE; Jonlin E; Wakefield L; Sullivan LB; Chen EY; Dorsman J; Brakenhoff R; Paulovich AG; Grompe M; Garcia-Escudero R; Wells SI; Smogorzewska A; Monnat RJ
Int J Cancer; 2023 Jul; 153(1):183-196. PubMed ID: 36912284
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5. Cytogenetics in Fanconi Anemia: The Importance of Follow-Up and the Search for New Biomarkers of Genomic Instability.
Merfort LW; Lisboa MO; Cavalli LR; Bonfim CMS
Int J Mol Sci; 2022 Nov; 23(22):. PubMed ID: 36430597
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6. Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2-mutation carriers.
Mori T; Okamoto Y; Mu A; Ide Y; Yoshimura A; Senda N; Inagaki-Kawata Y; Kawashima M; Kitao H; Tokunaga E; Miyoshi Y; Ohsumi S; Tsugawa K; Ohta T; Katagiri T; Ohtsuru S; Koike K; Ogawa S; Toi M; Iwata H; Nakamura S; Matsuo K; Takata M
Cancer Med; 2023 Mar; 12(6):6594-6602. PubMed ID: 36345163
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7. Investigation of mutations in Fanconi anemia genes and malignancy predisposition in Brazilian patients.
Pillonetto DV; Piovezan BZ; Nichele S; Lima ACM; Pasquini R; Pereira NF; Bonfim C
Int J Lab Hematol; 2023 Feb; 45(1):82-89. PubMed ID: 36333938
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8. Imaging of spinal chordoma and benign notochordal cell tumor (BNCT) with radiologic pathologic correlation.
Murphey MD; Minn MJ; Contreras AL; Koeller KK; Shih RY; Inwards CY; Yamaguchi T
Skeletal Radiol; 2023 Mar; 52(3):349-363. PubMed ID: 36063190
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9. Somatic mosaicism in patients with Fanconi anaemia: Proposal of alternative tissue for inconclusive diagnoses.
Oliveira Pereira C; Pillonetto DV; Borgonovo T; Rebelatto CLK; Barbosa ML; Finger MC; Nichele S; Trennepohl J; Loth G; Bonfim C
Int J Lab Hematol; 2022 Oct; 44(5):900-906. PubMed ID: 35644995
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10. Tongue cancer following hematopoietic cell transplantation for Fanconi anemia.
Di Bartolomeo M; Anesi A; Pellacani A; Negrello S; Natale A; Figurelli S; Vaddinelli D; Angelini S; Chiarini L; Nocini R; Di Bartolomeo P
Clin Oral Investig; 2022 Sep; 26(9):5943-5952. PubMed ID: 35624384
[TBL] [Abstract] [Full Text] [Related]
11. Inherited bone marrow failure in the pediatric patient.
Dokal I; Tummala H; Vulliamy T
Blood; 2022 Aug; 140(6):556-570. PubMed ID: 35605178
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12. Fanconi anaemia: A syndrome with distinct subgroups.
Alter BP; Giri N; McReynolds LJ; Altintas B
Br J Haematol; 2022 May; 197(4):467-474. PubMed ID: 35191533
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13. Effects of cyclophosphamide related genetic variants on clinical outcomes of adult hematopoietic cell transplant patients.
Takahashi T; Pearson R; Cao Q; Scheibner A; Sanghavi K; Weisdorf D; Brunstein C; Rogosheske J; Bachanova V; Warlick ED; Wiseman A; Jacobson PA
Cancer Chemother Pharmacol; 2022 Apr; 89(4):543-549. PubMed ID: 35083501
[TBL] [Abstract] [Full Text] [Related]
14. Risk of cancer in heterozygous relatives of patients with Fanconi anemia.
McReynolds LJ; Giri N; Leathwood L; Risch MO; Carr AG; Alter BP
Genet Med; 2022 Jan; 24(1):245-250. PubMed ID: 34906449
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15. 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]
16. Outcome of patients with Fanconi anemia developing myelodysplasia and acute leukemia who received allogeneic hematopoietic stem cell transplantation: A retrospective analysis on behalf of EBMT group.
Giardino S; de Latour RP; Aljurf M; Eikema DJ; Bosman P; Bertrand Y; Tbakhi A; Holter W; Bornhäuser M; Rössig C; Burkhardt B; Zecca M; Afanasyev B; Michel G; Ganser A; Alseraihy A; Ayas M; Uckan-Cetinkaya D; Bruno B; Patrick K; Bader P; Itälä-Remes M; Rocha V; Jubert C; Diaz MA; Shaw PJ; Junior LGD; Locatelli F; Kröger N; Faraci M; Pierri F; Lanino E; Miano M; Risitano A; Robin M; Dufour C;
Am J Hematol; 2020 Jul; 95(7):809-816. PubMed ID: 32267023
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17. Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P; Fox L; Ryland GL; Thompson ER; Lickiss J; McBean M; Yerneni S; Hughes D; Greenway A; Mechinaud F; Wood EM; Lieschke GJ; Szer J; Barbaro P; Roy J; Wight J; Lynch E; Martyn M; Gaff C; Ritchie D
Haematologica; 2021 Jan; 106(1):64-73. PubMed ID: 32054657
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18. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M; Pujol R; Aza-Carmona M; Muñoz-Subirana N; Rodriguez-Santiago B; Casado JA; Rio P; Bauser C; Reina-Castillón J; Lopez-Sanchez M; Gonzalez-Quereda L; Gallano P; Catalá A; Ruiz-Llobet A; Badell I; Diaz-Heredia C; Hladun R; Senent L; Argiles B; Bergua Burgues JM; Bañez F; Arrizabalaga B; López Almaraz R; Lopez M; Figuera Á; Molinés A; Pérez de Soto I; Hernando I; Muñoz JA; Del Rosario Marin M; Balmaña J; Stjepanovic N; Carrasco E; Cuesta I; Cosuelo JM; Regueiro A; Moraleda Jimenez J; Galera-Miñarro AM; Rosiñol L; Carrió A; Beléndez-Bieler C; Escudero Soto A; Cela E; de la Mata G; Fernández-Delgado R; Garcia-Pardos MC; Sáez-Villaverde R; Barragaño M; Portugal R; Lendinez F; Hernadez I; Vagace JM; Tapia M; Nieto J; Garcia M; Gonzalez M; Vicho C; Galvez E; Valiente A; Antelo ML; Ancliff P; Garcia F; Dopazo J; Sevilla J; Paprotka T; Pérez-Jurado LA; Bueren J; Surralles J
J Med Genet; 2020 Apr; 57(4):258-268. PubMed ID: 31586946
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19. Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population.
Steinberg-Shemer O; Goldberg TA; Yacobovich J; Levin C; Koren A; Revel-Vilk S; Ben-Ami T; Kuperman AA; Zemer VS; Toren A; Kapelushnik J; Ben-Barak A; Miskin H; Krasnov T; Noy-Lotan S; Dgany O; Tamary H
Haematologica; 2020 Jul; 105(7):1825-1834. PubMed ID: 31558676
[TBL] [Abstract] [Full Text] [Related]
20. Genotype-phenotype associations in Fanconi anemia: A literature review.
Fiesco-Roa MO; Giri N; McReynolds LJ; Best AF; Alter BP
Blood Rev; 2019 Sep; 37():100589. PubMed ID: 31351673
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