208 related articles for article (PubMed ID: 29904161)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Identification and Functional Investigation of Novel Heterozygous
Murtaza G; Yang L; Khan I; Unar A; Khan M; Huan Z; Khan R; Shi Q
Genet Test Mol Biomarkers; 2021 Oct; 25(10):654-659. PubMed ID: 34672775
[No Abstract] [Full Text] [Related]
11. 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]
12. Generating New FANCA-Deficient HNSCC Cell Lines by Genomic Editing Recapitulates the Cellular Phenotypes of Fanconi Anemia.
Errazquin R; Sieiro E; Moreno P; Ramirez MJ; Lorz C; Peral J; Ortiz J; Casado JA; Roman-Rodriguez FJ; Hanenberg H; Río P; Surralles J; Segrelles C; Garcia-Escudero R
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33918752
[TBL] [Abstract][Full Text] [Related]
13. [FANCA gene mutation analysis in Fanconi anemia patients].
Chen F; Peng GJ; Zhang K; Hu Q; Zhang LQ; Liu AG
Zhonghua Xue Ye Xue Za Zhi; 2005 Oct; 26(10):616-8. PubMed ID: 16532972
[TBL] [Abstract][Full Text] [Related]
14. Novel Variations of FANCA Gene Provokes Fanconi Anemia: Molecular Diagnosis in a Special Chinese Family.
Li N; Song A; Ding L; Zhu H; Li G; Miao Y; Wang J; Li B; Chen J
J Pediatr Hematol Oncol; 2018 Jul; 40(5):e299-e304. PubMed ID: 29702541
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Chromosomal breakage study in children suspected with Fanconi anemia in the Indian population.
Korgaonkar S; Ghosh K; Jijina F; Vundinti BR
J Pediatr Hematol Oncol; 2010 Nov; 32(8):606-10. PubMed ID: 20881871
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
Kasak L; Punab M; Nagirnaja L; Grigorova M; Minajeva A; Lopes AM; Punab AM; Aston KI; Carvalho F; Laasik E; Smith LB; ; Conrad DF; Laan M
Am J Hum Genet; 2018 Aug; 103(2):200-212. PubMed ID: 30075111
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]