177 related articles for article (PubMed ID: 35854323)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.
Krausz C; Riera-Escamilla A; Chianese C; Moreno-Mendoza D; Ars E; Rajmil O; Pujol R; Bogliolo M; Blanco I; Rodríguez I; Badell I; Ruiz-Castañé E; Surrallés J
Genet Med; 2019 Jan; 21(1):189-194. PubMed ID: 29904161
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Identification of a novel large intragenic deletion in a family with Fanconi anemia: first molecular report from India and review of literature.
Shukla P; Rao A; Ghosh K; Vundinti BR
Gene; 2013 Apr; 518(2):470-5. PubMed ID: 23370339
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. 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]
15. Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.
Zheng Z; Geng J; Yao RE; Li C; Ying D; Shen Y; Ying L; Yu Y; Fu Q
Gene; 2013 Nov; 530(2):295-300. PubMed ID: 23973728
[TBL] [Abstract][Full Text] [Related]
16. Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations.
Shahid M; Firasat S; Satti HS; Satti TM; Ghafoor T; Sharif I; Afshan K
Congenit Anom (Kyoto); 2020 Jan; 60(1):32-39. PubMed ID: 30809872
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Investigation of FANCA gene in Fanconi anaemia patients in Iran.
Moghadam AA; Mahjoubi F; Reisi N; Vosough P
Indian J Med Res; 2016 Feb; 143(2):184-96. PubMed ID: 27121516
[TBL] [Abstract][Full Text] [Related]
20. A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.
Lee HJ; Park S; Kang HJ; Jun JK; Lee JA; Lee DS; Park SS; Seong MW
Ann Lab Med; 2012 Sep; 32(5):380-4. PubMed ID: 22950077
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
