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Freire Chadrina Maria

GIGA

See author's contact details
ORCID
0000-0002-2492-5169
Main Referenced Co-authors
Bours, Vincent  (3)
Leroi, Natacha  (3)
Martin, Marie  (3)
Collignon, Joëlle  (2)
Filatova, Alexandra (2)
Main Referenced Keywords
BRCA1 (1); Cancer genetics (1); Cancer Research (1); case report (1); Child (1);
Main Referenced Unit & Research Centers
GIGA-AUHG - GIGA Cancer-Human Genetics - ULiège (1)
Main Referenced Disciplines
Genetics & genetic processes (4)
Oncology (2)

Publications (total 6)

The most downloaded
220 downloads
Filatova, A., Freire Chadrina, M., Lozier, E., Konovalov, F., Bessonova, L., Iudina, E., Gnetetskaya, V., Kanivets, I., Korostelev, S., & Skoblov, M. (28 November 2018). Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome [letter to the editor]. Clinical Genetics, 95 (3), 440-441. doi:10.1111/cge.13472 https://hdl.handle.net/2268/258925

The most cited

7 citations (OpenAlex)

Filatova, A., Freire Chadrina, M., Lozier, E., Konovalov, F., Bessonova, L., Iudina, E., Gnetetskaya, V., Kanivets, I., Korostelev, S., & Skoblov, M. (28 November 2018). Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome [letter to the editor]. Clinical Genetics, 95 (3), 440-441. doi:10.1111/cge.13472 https://hdl.handle.net/2268/258925

Freire Chadrina, M. (2025). Genetic evaluation of young adults with cancer [Doctoral thesis, ULiège - Université de Liège]. ORBi-University of Liège. https://orbi.uliege.be/handle/2268/328302

Freire Chadrina, M., Martin, M., Segers, K., Sépulchre, E., LEROI, N., COUPIER, J., Kalantari, H. R., Wolter, P., Collignon, J., Polus, M., Plomteux, O., Josse, C., & Bours, V. (29 May 2024). Digenic Inheritance of Mutations in Homologous Recombination Genes in Cancer Patients. Journal of Personalized Medicine, 14 (6), 584. doi:10.3390/jpm14060584
Peer Reviewed verified by ORBi

Freire, M. V., MARTIN, M., Thissen, R., Van Marcke, C., SEGERS, K., SEPULCHRE, E., LEROI, N., LETE, C., FASQUELLE, C., Radermacher, J., Gokburun, Y., COLLIGNON, J., Sacré, A., JOSSE, C., PALMEIRA, L., & BOURS, V. (2022). Case Report Series: Aggressive HR Deficient Colorectal Cancers Related to BRCA1 Pathogenic Germline Variants. Frontiers in Oncology, 12, 835581. doi:10.3389/fonc.2022.835581
Peer Reviewed verified by ORBi

DOCAMPO MARTINEZ, E., MARTIN, M., GANGOLF, M., HARVENGT, J., BULK, S., SEGERS, K., LEROI, N., LETE, C., PALMARICCIOTTI, V., Freire Chadrina, M., LAMBERT, F., & Bours, V. (2021). Hérédité et cancer. Revue Médicale de Liège, 76 (5-6), 327-336.
Peer reviewed

Milovidova, T., Schagina, O., Freire Chadrina, M., Demina, N., Filatova, A., Skoblov, M., Stepanova, A., Chuhrova, A., & Polyakov, A. (15 July 2019). X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation [letter to the editor]. Journal of the European Academy of Dermatology and Venereology, 33 (12), 468-e470. doi:10.1111/jdv.15798
Peer Reviewed verified by ORBi

Filatova, A., Freire Chadrina, M., Lozier, E., Konovalov, F., Bessonova, L., Iudina, E., Gnetetskaya, V., Kanivets, I., Korostelev, S., & Skoblov, M. (28 November 2018). Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome [letter to the editor]. Clinical Genetics, 95 (3), 440-441. doi:10.1111/cge.13472
Peer Reviewed verified by ORBi

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