Literature DB >> 10991691

A constitutional homozygous mutation in the RB1 gene in a patient with unilateral retinoblastoma.

F Sánchez, E Mateu, M Beneyto, C Nájera, F Prieto.   

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Year:  2000        PMID： 10991691      PMCID： PMC1734647          DOI： 10.1136/jmg.37.8.615

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  The N Terminus of the Retinoblastoma Protein Inhibits DNA Replication via a Bipartite Mechanism Disrupted in Partially Penetrant Retinoblastomas.

Authors:  Sergiy I Borysov; Brook S Nepon-Sixt; Mark G Alexandrow
Journal:  Mol Cell Biol       Date:  2015-12-28       Impact factor: 4.272

2.  Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

Authors:  Valentina Imperatore; Anna Maria Pinto; Elisa Gelli; Eva Trevisson; Valeria Morbidoni; Elisa Frullanti; Theodora Hadjistilianou; Sonia De Francesco; Paolo Toti; Elena Gusson; Gaia Roversi; Andrea Accogli; Valeria Capra; Maria Antonietta Mencarelli; Alessandra Renieri; Francesca Ariani
Journal:  Eur J Hum Genet       Date:  2018-04-17       Impact factor: 4.246

3.  Crystal structure of the retinoblastoma protein N domain provides insight into tumor suppression, ligand interaction, and holoprotein architecture.

Authors:  Markus Hassler; Shradha Singh; Wyatt W Yue; Maciej Luczynski; Rachid Lakbir; Francisco Sanchez-Sanchez; Thomas Bader; Laurence H Pearl; Sibylle Mittnacht
Journal:  Mol Cell       Date:  2007-11-09       Impact factor: 17.970

4.  Foetal haemoglobin-blood cells (F-cells) as a feature of embryonic tumours (blastomas).

Authors:  M Wolk; J E Martin; M Nowicki
Journal:  Br J Cancer       Date:  2007-06-26       Impact factor: 7.640
  4 in total

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