Terms: = Bone cancer AND FANCD2, FANCD, 2177, ENSG00000144554, FLJ23826, FAD, FACD, FA4, FA-D2, FAD2, DKFZp762A223 AND Diagnosis
12 results:
1. 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]
2. Fluorescence spectral detection of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML): A novel photodiagnosis strategy.
Masilamani V; Devanesan S; AlSalhi MS; AlQahtany FS; Farhat KH
Photodiagnosis Photodyn Ther; 2020 Mar; 29():101634. PubMed ID: 31870897
[TBL] [Abstract] [Full Text] [Related]
3. 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
[TBL] [Abstract] [Full Text] [Related]
4. 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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5. Functional analysis of Fanconi anemia mutations in China.
Li N; Ding L; Li B; Wang J; D'Andrea AD; Chen J
Exp Hematol; 2018 Oct; 66():32-41.e8. PubMed ID: 30031030
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6. 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]
7. Profiling Fanconi Anemia Gene Mutations among Iranian Patients.
Esmail Nia G; Fadaee M; Royer R; Najmabadi H; Akbari MR
Arch Iran Med; 2016 Apr; 19(4):236-40. PubMed ID: 27041517
[TBL] [Abstract] [Full Text] [Related]
8. Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.
Zhang J; Barbaro P; Guo Y; Alodaib A; Li J; Gold W; Adès L; Keating BJ; Xu X; Teo J; Hakonarson H; Christodoulou J
Clin Genet; 2016 Feb; 89(2):163-72. PubMed ID: 25703294
[TBL] [Abstract] [Full Text] [Related]
9. 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
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10. Warty dyskeratoma/focal acantholytic dyskeratosis--an update on a rare oral lesion.
Allon I; Buchner A
J Oral Pathol Med; 2012 Mar; 41(3):261-7. PubMed ID: 21936875
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11. [Fanconi anemia: genes and function(s) revisited].
Papadopoulo D; Moustacchi E
Med Sci (Paris); 2005; 21(8-9):730-6. PubMed ID: 16115458
[TBL] [Abstract] [Full Text] [Related]
12. A novel diagnostic screen for defects in the Fanconi anemia pathway.
Shimamura A; Montes de Oca R; Svenson JL; Haining N; Moreau LA; Nathan DG; D'Andrea AD
Blood; 2002 Dec; 100(13):4649-54. PubMed ID: 12393398
[TBL] [Abstract] [Full Text] [Related]
