Cargando…

RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling

Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagn...

Descripción completa

Detalles Bibliográficos
Autores principales:	Parma, Diana, Ferrer, Marcela, Luce, Leonela, Giliberto, Florencia, Szijan, Irene
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738096/ https://www.ncbi.nlm.nih.gov/pubmed/29261756 http://dx.doi.org/10.1371/journal.pone.0189736

Ejemplares similares

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling
por: Tomar, Swati, et al.
Publicado: (2017)

Non-myogenic tumors display altered expression of dystrophin (DMD) and a high frequency of genetic alterations
por: Luce, Leonela N., et al.
Publicado: (2016)

RB1 gene mutations and genetic spectrum in retinoblastoma cases
por: Akdeniz Odemis, Demet, et al.
Publicado: (2023)

Metagenomic analysis of gut microbiota in non-treated plaque psoriasis patients stratified by disease severity: development of a new Psoriasis-Microbiome Index
por: Dei-Cas, Ignacio, et al.
Publicado: (2020)

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma
por: Abidi, Omar, et al.
Publicado: (2011)

Spectrum of mutations in the RB1 gene in Vietnamese patients with retinoblastoma
por: Kiet, Nguyen Cong, et al.
Publicado: (2019)

Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches
por: Buonfiglio, Paula I., et al.
Publicado: (2022)

Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling
por: Barbosa, Raquel H, et al.
Publicado: (2009)

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality
por: Rojanaporn, Duangnate, et al.
Publicado: (2022)

The RB1 gene mutation in a child with ectopic intracranial retinoblastoma.
por: Onadim, Z., et al.
Publicado: (1997)

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort
por: Buonfiglio, Paula, et al.
Publicado: (2020)

The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China
por: Xie, Ying, et al.
Publicado: (2021)

Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma
por: Mohd Khalid, Mohd Khairul Nizam, et al.
Publicado: (2015)

Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene
por: Palomar-Siles, Mireia, et al.
Publicado: (2023)

RB1 mutations and second primary malignancies after hereditary retinoblastoma
por: Dommering, Charlotte J., et al.
Publicado: (2011)

Patterns of risk of hereditary retinoblastoma and applications to genetic counselling.
por: Draper, G. J., et al.
Publicado: (1992)

Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene
por: Hung, Chia-Cheng, et al.
Publicado: (2011)

Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma
por: Alekseeva, Ekaterina A., et al.
Publicado: (2021)

RB1 gene inactivation by chromothripsis in human retinoblastoma
por: McEvoy, Justina, et al.
Publicado: (2014)

Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations
por: Nguyen, Ha Hai, et al.
Publicado: (2018)

RB116: An RB1+ retinoblastoma cell line expressing primitive markers
por: Bejjani, Anthony, et al.
Publicado: (2012)

Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN‐amplified retinoblastoma
por: Ewens, Kathryn G., et al.
Publicado: (2017)

Five novel RB1 gene mutations and genotype–phenotype correlations in Chinese children with retinoblastoma
por: Li, Luting, et al.
Publicado: (2022)

Theragnosis for Duchenne Muscular Dystrophy
por: Luce, Leonela, et al.
Publicado: (2021)

The Role and Clinical Implications of the Retinoblastoma (RB)-E2F Pathway in Gastric Cancer
por: Wu, Tianyi, et al.
Publicado: (2021)

Spectrum of germline RB1 mutations and clinical manifestations in retinoblastoma patients from Thailand
por: Rojanaporn, Duangnate, et al.
Publicado: (2018)

Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma
por: Lan, Xiaoping, et al.
Publicado: (2020)

RB1 loss triggers dependence on ESRRG in retinoblastoma
por: Field, Matthew G., et al.
Publicado: (2022)

Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype–phenotype correlations
por: He, Ming-yan, et al.
Publicado: (2014)

Mutation Spectrum of RB1 Gene in Unilateral Retinoblastoma Cases from Tunisia and Correlations with Clinical Features
por: Ayari-Jeridi, Hajer, et al.
Publicado: (2015)

The Argentine Republic.
Publicado: (1915)

Novel RB1 and MET Gene Mutations in a Case with Bilateral Retinoblastoma Followed by Multiple Metastatic Osteosarcoma
por: Mokánszki, Attila, et al.
Publicado: (2020)

Rb suppresses human cone precursor-derived retinoblastoma tumors
por: Xu, Xiaoliang L., et al.
Publicado: (2014)

Germline retinoblastoma: estimating risk and counselling the family
por: Rosser, Elisabeth, et al.
Publicado: (2018)

Formation of the G-quadruplex and i-motif structures in retinoblastoma susceptibility genes (Rb)
por: Xu, Yan, et al.
Publicado: (2006)

Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma
por: Devarajan, Bharanidharan, et al.
Publicado: (2015)

Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing
por: Zou, Yihua, et al.
Publicado: (2021)

Molecular Changes in Retinoblastoma beyond RB1: Findings from Next-Generation Sequencing
por: Francis, Jasmine H., et al.
Publicado: (2021)

Role of the Retinoblastoma protein, Rb, during adult neurogenesis in the olfactory bulb
por: Naser, Rayan, et al.
Publicado: (2016)

Phosphorylation of the Retinoblastoma protein (Rb) on serine-807 is required for association with Bax
por: Antonucci, Lisa A, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_pfgfcopf3t5iuntupnjjapc5n0