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Items: 20


Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Tomar S, Sethi R, Sundar G, Quah TC, Quah BL, Lai PS.

PLoS One. 2017 Jun 2;12(6):e0178776. doi: 10.1371/journal.pone.0178776. eCollection 2017.


Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Grotta S, D'Elia G, Scavelli R, Genovese S, Surace C, Sirleto P, Cozza R, Romanzo A, De Ioris MA, Valente P, Tomaiuolo AC, Lepri FR, Franchin T, Ciocca L, Russo S, Locatelli F, Angioni A.

BMC Cancer. 2015 Nov 4;15:841. doi: 10.1186/s12885-015-1854-0.


Direct involvement of retinoblastoma family proteins in DNA repair by non-homologous end-joining.

Cook R, Zoumpoulidou G, Luczynski MT, Rieger S, Moquet J, Spanswick VJ, Hartley JA, Rothkamm K, Huang PH, Mittnacht S.

Cell Rep. 2015 Mar 31;10(12):2006-18. doi: 10.1016/j.celrep.2015.02.059. Epub 2015 Mar 26.


Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.

Ayari-Jeridi H, Moran K, Chebbi A, Bouguila H, Abbes I, Charradi K, Benammar-Elgaaïed A, Ganguly A.

PLoS One. 2015 Jan 20;10(1):e0116615. doi: 10.1371/journal.pone.0116615. eCollection 2015.


Screening for large rearrangements of the RB1 gene in Iranian patients with retinoblastoma using multiplex ligation-dependent probe amplification.

Ahani A, Akbari MT, Saliminejad K, Behnam B, Akhondi MM, Vosoogh P, Ghassemi F, Naseripour M, Bahoush G, Khorshid HR.

Mol Vis. 2013;19:454-62. Epub 2013 Feb 22.


Genotyping of Polymorphic Microsatellite Markers Linked to RB1 Locus in Iranian Population.

Zahery SM, Saliminejad K, Khorshid HR, Ahani A.

Avicenna J Med Biotechnol. 2012 Oct;4(4):193-9.


The tumor suppressor gene retinoblastoma-1 is required for retinotectal development and visual function in zebrafish.

Gyda M, Wolman M, Lorent K, Granato M.

PLoS Genet. 2012;8(11):e1003106. doi: 10.1371/journal.pgen.1003106. Epub 2012 Nov 29.


Genetically engineered mouse models and human osteosarcoma.

Ng AJ, Mutsaers AJ, Baker EK, Walkley CR.

Clin Sarcoma Res. 2012 Oct 4;2(1):19. doi: 10.1186/2045-3329-2-19.


Monozygotic twins discordant for constitutive BRCA1 promoter methylation, childhood cancer and secondary cancer.

Galetzka D, Hansmann T, El Hajj N, Weis E, Irmscher B, Ludwig M, Schneider-Rätzke B, Kohlschmidt N, Beyer V, Bartsch O, Zechner U, Spix C, Haaf T.

Epigenetics. 2012 Jan 1;7(1):47-54. doi: 10.4161/epi.7.1.18814. Epub 2012 Jan 1.


Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors.

Mills MB, Hudgins L, Balise RR, Abramson DH, Kleinerman RA.

Hum Genet. 2012 Jul;131(7):1115-22. doi: 10.1007/s00439-011-1126-2. Epub 2011 Dec 28.


Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

Barbosa RH, Vargas FR, Lucena E, Bonvicino CR, Seuánez HN.

BMC Med Genet. 2009 Jul 29;10:75. doi: 10.1186/1471-2350-10-75.


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

Hassler M, Singh S, Yue WW, Luczynski M, Lakbir R, Sanchez-Sanchez F, Bader T, Pearl LH, Mittnacht S.

Mol Cell. 2007 Nov 9;28(3):371-85.


A role for epigenetics in hearing: Establishment and maintenance of auditory specific gene expression patterns.

Provenzano MJ, Domann FE.

Hear Res. 2007 Nov;233(1-2):1-13. Epub 2007 Jul 19. Review.


A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus.

Zeschnigk M, Böhringer S, Price EA, Onadim Z, Masshöfer L, Lohmann DR.

Nucleic Acids Res. 2004 Sep 7;32(16):e125.


Identification of three novel RB1 mutations in Brazilian patients with retinoblastoma by "exon by exon" PCR mediated SSCP analysis.

Braggio E, Bonvicino CR, Vargas FR, Ferman S, Eisenberg AL, Seuánez HN.

J Clin Pathol. 2004 Jun;57(6):585-90.


At what age could screening for familial retinoblastoma be stopped? A register based study 1945-98.

Moll AC, Imhof SM, Meeteren AY, Boers M.

Br J Ophthalmol. 2000 Oct;84(10):1170-2.


Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P.

Am J Hum Genet. 2000 Mar;66(3):790-818.


Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP.

Am J Hum Genet. 1998 Mar;62(3):610-9.


Predictive testing for retinoblastoma comes of age.

Gallie BL.

Am J Hum Genet. 1997 Aug;61(2):279-81. No abstract available.

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