165 related articles for article (PubMed ID: 32793304)
1. Novel
Repczynska A; Pastorczak A; Babol-Pokora K; Skalska-Sadowska J; Drozniewska M; Mlynarski W; Haus O
Mol Cytogenet; 2020; 13():33. PubMed ID: 32793304
[TBL] [Abstract][Full Text] [Related]
2. Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.
Repczynska A; Julga K; Skalska-Sadowska J; Kacprzak MM; Bartoszewska-Kubiak A; Lazarczyk E; Loska D; Drozniewska M; Czerska K; Wachowiak J; Haus O
Orphanet J Rare Dis; 2022 Jul; 17(1):282. PubMed ID: 35854323
[TBL] [Abstract][Full Text] [Related]
3. The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia.
Coleman J; Green AJ; Bradley L
Blood Cells Mol Dis; 2023 Sep; 102():102762. PubMed ID: 37276838
[TBL] [Abstract][Full Text] [Related]
4. Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.
Doubaj Y; Zrhidri A; Elalaoui SC; Lyahyai J; El Kadiri Y; Elkassimi N; Sbiti A; El Kababri M; Hessissen L; Sefiani A
Pan Afr Med J; 2021; 39():72. PubMed ID: 34422195
[TBL] [Abstract][Full Text] [Related]
5. Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic
Lach FP; Singh S; Rickman KA; Ruiz PD; Noonan RJ; Hymes KB; DeLacure MD; Kennedy JA; Chandrasekharappa SC; Smogorzewska A
Cold Spring Harb Mol Case Stud; 2020 Dec; 6(6):. PubMed ID: 33172906
[TBL] [Abstract][Full Text] [Related]
6. Evidence for complete epistasis of null mutations in murine Fanconi anemia genes Fanca and Fancg.
van de Vrugt HJ; Koomen M; Bakker S; Berns MA; Cheng NC; van der Valk MA; de Vries Y; Rooimans MA; Oostra AB; Hoatlin ME; Te Riele H; Joenje H; Arwert F
DNA Repair (Amst); 2011 Dec; 10(12):1252-61. PubMed ID: 22036606
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 23067021
[TBL] [Abstract][Full Text] [Related]
8. Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.
Behera CK; Gyandeep G; Mishra R; Mohanty RP; Pal A; Behera J; Samal S; Das B
Mol Biol Rep; 2023 Jan; 50(1):931-936. PubMed ID: 36369330
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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
[TBL] [Abstract][Full Text] [Related]
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 case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing.
Solomon PJ; Margaret P; Rajendran R; Ramalingam R; Menezes GA; Shirley AS; Lee SJ; Seong MW; Park SS; Seol D; Seo SH
Ital J Pediatr; 2015 May; 41():38. PubMed ID: 25953249
[TBL] [Abstract][Full Text] [Related]
13. 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; 117(14):3759-69. PubMed ID: 21273304
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.
Freire BL; Homma TK; Funari MFA; Lerario AM; Leal AM; Velloso EDRP; Malaquias AC; Jorge AAL
Eur J Med Genet; 2018 Mar; 61(3):130-133. PubMed ID: 29133208
[TBL] [Abstract][Full Text] [Related]
16. Severe telomere shortening in Fanconi anemia complementation group L.
Shah A; George M; Dhangar S; Rajendran A; Mohan S; Vundinti BR
Mol Biol Rep; 2021 Jan; 48(1):585-593. PubMed ID: 33394227
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Common Variable Immunodeficiency Caused by FANC Mutations.
Sekinaka Y; Mitsuiki N; Imai K; Yabe M; Yabe H; Mitsui-Sekinaka K; Honma K; Takagi M; Arai A; Yoshida K; Okuno Y; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Muramatsu H; Kojima S; Hira A; Takata M; Ohara O; Ogawa S; Morio T; Nonoyama S
J Clin Immunol; 2017 Jul; 37(5):434-444. PubMed ID: 28493158
[TBL] [Abstract][Full Text] [Related]
19. A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report.
Zareifar S; Dastsooz H; Shahriari M; Faghihi MA; Shekarkhar G; Bordbar M; Zekavat OR; Shakibazad N
BMC Med Genet; 2019 Jul; 20(1):122. PubMed ID: 31288759
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]