|
1
|
Fiesco-Roa MO, Giri N, McReynolds LJ, Best
AF and Alter BP: Genotype-phenotype associations in Fanconi anemia:
A literature review. Blood Rev. 37(100589)2019.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Molina B, Frías S and Ramos S: Anemia de
Fanconi, Parte 1. Diagnóstico citogenético. Acta Pediatr. Méx.
43:102–128. 2022.
|
|
3
|
Niraj J, Färkkilä A and D'Andrea AD: The
Fanconi anemia pathway in cancer. Annu Rev Cancer Biol. 3:457–478.
2019.PubMed/NCBI View Article : Google Scholar
|
|
4
|
García-de-Teresa B, Rodríguez A and Frias
S: Chromosome instability in Fanconi anemia: From breaks to
phenotypic consequences. Genes (Basel). 11(1528)2020.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Lach FP, Singh S, Rickman KA, Ruiz PD,
Noonan RJ, Hymes KB, DeLacure MD and Kennedy JA: Esophageal cancer
as initial presentation of Fanconi anemia in patients with a
hypomorphic FANCA variant. Cold Spring Harb Mol Case Stud.
6(a005595)2020.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Repczynska A, Pastorczak A, Babol-Pokora
K, Skalska-Sadowska J, Drozniewska M, Mlynarski W and Haus O: Novel
FANCA mutation in the first fully-diagnosed patient with Fanconi
anemia in Polish population-case report. Mol Cytogenet.
13(33)2020.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Joshi G, Arthur NBJ, Geetha TS, Datari
PVR, Modak K, Roy D, Chaudhury AD, Sundaraganesan P, Priyanka S, Na
F, et al: Comprehensive laboratory diagnosis of Fanconi anaemia:
Comparison of cellular and molecular analysis. J Med Genet.
60:801–809. 2023.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Colović M, Todorović M, Colović N, Terzic
T, Karadzic K and Jurišić V: Appearance of estrogen positive
bilateral breast carcinoma with HER2 gene amplification in a
patient with aplastic anemia. Pol J Pathol. 65:66–69.
2014.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Kimble DC, Lach FP, Gregg SQ, Donovan FX,
Flynn EK, Kamat A, Young A, Vemulapalli M and Thomas JW: A
comprehensive approach to identification of pathogenic FANCA
variants in Fanconi anemia patients and their families. Hum Mutat.
39:237–254. 2018.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Bobabilla-Morales L, Corona-Rivera A,
Corona-Rivera JR, Buenrostro C, García-Cobián TA, Corona-Rivera E,
Cantú-Garza JM and García-Cruz D: Chromosome instability induced in
vitro with mitomycin C in five Seckel syndrome patients. Am J Med
Genet A. 123A:148–152. 2003.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Lawce HJ and Brown MG: Cytogenetics: An
overview. In: The AGT Cytogenetics Laboratory Manual. John Wiley
& Sons, Inc., Hoboken NJ, pp25-85, 2017.
|
|
12
|
McGowan-Jordan J, Hastings RJ and Moore S
(eds): ISCN 2020-An International System for Human Cytogenomic
Nomenclature. Basel, Switzerland: Karger Publishers, 2020.
|
|
13
|
Cock PJ, Antao T, Chang JT, Chapman BA,
Cox CJ, Dalke A, Friedberg I, Hamelryck T, Kauff F, Wilczynski B
and de Hoon MJ: Biopython: Freely available Python tools for
computational molecular biology and bioinformatics. Bioinformatics.
25:1422–1423. 2009.PubMed/NCBI View Article : Google Scholar
|
|
14
|
LOVD v.3.0: The next generation in gene
variant databases. Retrieved April 25, Lovd, NL, 2024. Available
from: https://www.lovd.nl/3.0/home.
|
|
15
|
Mori M, Hira A, Yoshida K, Muramatsu H,
Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, et
al: Pathogenic mutations identified by a multimodality approach in
117 Japanese Fanconi anemia patients. Haematologica. 104:1962–1973.
2019.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Zhu QY, Li PC, Zhu YF, Pan JN, Wang R, Li
XL, Ye WW, Ding XW, Wang XJ and Cao WM: A comprehensive analysis of
Fanconi anemia genes in Chinese patients with high-risk hereditary
breast cancer. J Cancer Res Clin Oncol. 149:14303–14313.
2023.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Goldsby RE, Perkins SL, Virshup DM,
Brothman AR and Bruggers CS: Lymphoblastic lymphoma and excessive
toxicity from chemotherapy: An unusual presentation for Fanconi
anemia. J Pediatr Hematol Oncol. 21:240–143. 1999.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Suzuki D, Kobayashi R, Yasuda K, Nakagawa
A, Morimoto T, Yabe M, Yabe H and Kobayashi K: Precursor-T
lymphoblastic lymphoma after unrelated bone marrow transplantation
in a patient with Fanconi anemia. J Pediatr Hematol Oncol.
33:22–24. 2011.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Violeta Filip P, Cuciureanu D, Sorina
Diaconu L, Maria Vladareanu A and Silvia Pop C: MALT lymphoma:
Epidemiology, clinical diagnosis and treatment. J Med Life.
11:187–193. 2018.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Shahid M and Firasat S: FANCA and
contribution of studies from Asian populations to the understanding
of fanca mediated Fanconi anemia. Genetika. 51:1197–1225. 2019.
|
