Zobrazeno 1 - 10
of 463
pro vyhledávání: '"Rb1 gene"'
Autor:
Yacoub A. Yousef, Mona Mohammad, Laith Baqain, Maysa Al-Hussaini, Mayada Abu Shanap, Hadeel Halalsheh, Jakub Khzouz, Imad Jaradat, Mustafa Mehyar, Iyad Sultan, Ibrahim AlNawaiseh, Munir Shawagfeh
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
PurposeRetinoblastoma, a childhood cancer originating in the retina, is primarily attributed to pathogenic RB1 mutations The aim of this study is to conduct a mutational analysis of the RB1 gene in cases of unilateral Retinoblastoma among individuals
Externí odkaz:
https://doaj.org/article/b29cc989d8164bd9a8ffe355a20d454b
Autor:
Malek Bouassida, Denise Molina‐Gomes, Fairouz Koraichi, Bérénice Hervé, Morgane Lhuilier, Clémence Duvillier, Jessica Le Gall, Marion Gauthier‐Villars, Valérie Serazin, Thibaud Quibel, Rodolphe Dard, François Vialard
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy‐number‐variant duplications and defining the mechanisms underlying the
Externí odkaz:
https://doaj.org/article/af6164b5d9da485aafb99171c8d09aba
Autor:
Amy Gerrish, Chipo Mashayamombe-Wolfgarten, Edward Stone, Claudia Román-Montañana, Joseph Abbott, Helen Jenkinson, Gerard Millen, Sam Gurney, Maureen McCalla, Sarah-Jane Staveley, Anu Kainth, Maria Kirk, Claire Bowen, Susan Cavanagh, Sancha Bunstone, Megan Carney, Ajay Mohite, Samuel Clokie, M. Ashwin Reddy, Alison Foster, Stephanie Allen, Manoj Parulekar, Trevor Cole
Publikováno v:
Cancers, Vol 16, Iss 8, p 1565 (2024)
The identification of somatic RB1 variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is unavailable, cell-free DNA (cfDNA) derived from aqueous humour (AH) can be used to iden
Externí odkaz:
https://doaj.org/article/f4fb4a9adc374786bf15076a03be0d86
Autor:
Leili Koochakzadeh, Abbasali Yekta, Hassan Hashemi, Reza Pakzad, Samira Heydarian, Mehdi Khabazkhoob
Publikováno v:
International Journal of Ophthalmology, Vol 16, Iss 6, Pp 962-968 (2023)
AIM: To collect and present updated evidence about epidemiological aspects of retinoblastoma (Rb) in the world. METHODS: A comprehensive search without the time and language restrictions was conducted in international databases, including MEDLINE, Sc
Externí odkaz:
https://doaj.org/article/dba61b6238754f8a8750843cda81df18
Autor:
Dao Nguyen Ha Linh, Nguyen Van Huy, Phuoc‐Dung Nguyen, Phuong Le Thi, Hoang Anh Tuan, Trong Van Nguyen, Thu Ha Tran, Hai Anh Tran, Thanh Dat Ta, Tuan L. A. Pham, The‐Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van‐Khanh Tran
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 11, Pp n/a-n/a (2023)
Abstract Background Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatm
Externí odkaz:
https://doaj.org/article/6aa8a8dd1de147cc936ffd732b2f07dd
Autor:
Diana Figueiredo, Inês A. Marques, Ana Salomé Pires, Claudia F. Cavaleiro, Luís C. Costa, Guilherme Castela, Joaquim N. Murta, Maria Filomena Botelho, Ana Margarida Abrantes
Publikováno v:
Cancers, Vol 15, Iss 22, p 5336 (2023)
Retinoblastoma (RB) is the most common ocular neoplasm in children, whose development depends on two mutational events that occur in both alleles of the retinoblastoma susceptibility gene (RB1). Regarding the nature of these mutational events, RB can
Externí odkaz:
https://doaj.org/article/4e7bdfe247454d39984e0ae33928fec8
Autor:
Yelena Diarra, Christina Brockmeyer, Karen Fischhuber, Isabel Hülsenbeck, Saskia Ting, Madlen Reschke, Tobias Kiefer, Anna Hannbücken, Maren Wagemanns, Leyla Jabbarli, Selma Sirin, Regina Wieland, Gudrun Fleischhack, Johannes H. Schulte, Martin Ebinger, Dietmar Lohmann, Bert Müller, Daniela Süsskind, Christoph Schwab, Ines Brecht, Angelika Eggert, Stefan Schönberger, Petra Ritter-Sovinz, Nikolaos Bechrakis, Sophia Göricke, Beate Timmermann, Eva Biewald, Petra Ketteler
Publikováno v:
EJC Paediatric Oncology, Vol 1, Iss , Pp 100004- (2023)
Introduction: Advanced localized retinoblastoma can be cured by enucleation, but extraocular spread of retinoblastoma cells is associated with a high mortality. Risk-stratified adjuvant treatment with chemotherapy and radiotherapy has been shown to r
Externí odkaz:
https://doaj.org/article/37deb7c0f4c64cb19119b83fa0afe72a
Akademický článek
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Publikováno v:
Risk Management and Healthcare Policy, Vol Volume 14, Pp 3453-3463 (2021)
Ying Xie,1,2 Xiao-Lin Xu,1 Wen-Bin Wei1 1Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology and Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Key
Externí odkaz:
https://doaj.org/article/104c032da9b044fe8b22bcf542c9be77
Akademický článek
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