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Ophthalmic Genetics Volume 34, 2013 - Issue 4
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Research Reports

Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma

Daniela OttavianiGenetica y Biologia Molecular, Facultad de Farmacia y Bioquimica, Universidad de Buenos AiresArgentina
,
Diana ParmaGenetica y Biologia Molecular, Facultad de Farmacia y Bioquimica, Universidad de Buenos AiresArgentina
,
Florencia GilibertoGenetica y Biologia Molecular, Facultad de Farmacia y Bioquimica, Universidad de Buenos AiresArgentina
,
Marcela FerrerDivision de Neurocirugia, Hospital de Clinicas Jose de San Martin, Universidad de Buenos AiresArgentina
,
Adriana FandinoDepartamentos de Hemato-Oncologia, Oftalmologia y Anatomia Patologica, Hospital Garrahan, Buenos Aires Argentina
,
Maria Teresa DavilaDepartamentos de Hemato-Oncologia, Oftalmologia y Anatomia Patologica, Hospital Garrahan, Buenos Aires Argentina
,
Guillermo ChantadaDepartamentos de Hemato-Oncologia, Oftalmologia y Anatomia Patologica, Hospital Garrahan, Buenos Aires Argentina
&
Irene SzijanGenetica y Biologia Molecular, Facultad de Farmacia y Bioquimica, Universidad de Buenos AiresArgentinaCorrespondence[email protected]
 show all
Pages 189-198 | Received 29 Aug 2012, Accepted 29 Nov 2012, Published online: 10 Jan 2013

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Débora Leite Rocha, Patricia Ashton-Prolla & Clévia Rosset. (2022) Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis. Expert Review of Molecular Diagnostics 22:3, pages 319-346.
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Xiaolian Fang, Jun Chen, Yizhuo Wang, Minchao Zhao, Xin Zhang, Lei Yang, Xin Ni, Junyang Zhao & Brenda L. Gallie. (2021) RB1 germline mutation spectrum and clinical features in patients with unilateral retinoblastomas. Ophthalmic Genetics 42:5, pages 593-599.
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Articles from other publishers (8)

Himika Gupta, Sivasankar Malaichamy, Ashwin Mallipatna, Sakthivel Murugan, Nallathambi Jeyabalan, Vishnu Suresh Babu, Anuprita Ghosh, Arkasubhra Ghosh, Sam Santhosh, Somasekar Seshagiri, Vedam L. Ramprasad & Govindasamy Kumaramanickavel. (2021) Retinoblastoma genetics screening and clinical management. BMC Medical Genomics 14:1.
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Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto & Irene Szijan. (2017) RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. PLOS ONE 12:12, pages e0189736.
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Xia Wang & Richard Alan Lewis. 2017. Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders. Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders 51 69 .
D. Ossandón, M. Zanolli, J.P. López, F. Benavides, V. Pérez & G.M. Repetto. (2016) Molecular diagnosis in patients with retinoblastoma: Report of a series of cases. Archivos de la Sociedad Española de Oftalmología (English Edition) 91:8, pages 379-384.
Crossref
D. Ossandón, M. Zanolli, J.P. López, F. Benavides, V. Pérez & G.M. Repetto. (2016) Diagnóstico molecular en pacientes con retinoblastoma: reporte de una serie de casos. Archivos de la Sociedad Española de Oftalmología 91:8, pages 379-384.
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Hajer Ayari-Jeridi, Kimberly Moran, Amel Chebbi, Hédi Bouguila, Imen Abbes, Khaoula Charradi, Amel Benammar-Elgaaïed & Arupa Ganguly. (2015) Mutation Spectrum of RB1 Gene in Unilateral Retinoblastoma Cases from Tunisia and Correlations with Clinical Features. PLOS ONE 10:1, pages e0116615.
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Hajer Ayari Jeridi, Hédi Bouguila, Birgit Ansperger-Rescher, Olfa Baroudi, Imen Mdimegh, Ines Omran, Khaoula Charradi, Hssan Bouzayene, Amel Benammar-Elgaaïed & Dietmar R. Lohmann. (2014) Genetic testing in Tunisian families with heritable retinoblastoma using a low cost approach permits accurate risk prediction in relatives and reveals incomplete penetrance in adults. Experimental Eye Research 124, pages 48-55.
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Jasmine H. Francis & David H. Abramson. (2014) Update on Ophthalmic Oncology 2013. Asia-Pacific Journal of Ophthalmology 3:4, pages 241-256.
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