PubMed

Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma.

Bremner R, Du DC, Connolly-Wilson MJ, Bridge P, Ahmad KF, Mostachfi H, Rushlow D, Dunn JM, Gallie BL.

Am J Hum Genet. 1997 Sep;61(3):556-70.PMID: 9326321 [PubMed - indexed for MEDLINE]Related articlesFree article

[Low-penetrance retinoblastoma due to exons 24 and 25 deletions in the Rb1 gene]

Du C, Jiang Y, Gallie BL.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Oct;19(5):370-4. Chinese. PMID: 12362308 [PubMed - indexed for MEDLINE]Related articles

Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma.

Sánchez-Sánchez F, Ramírez-Castillejo C, Weekes DB, Beneyto M, Prieto F, Nájera C, Mittnacht S.

Hum Mutat. 2007 Feb;28(2):159-67.PMID: 16988938 [PubMed - indexed for MEDLINE]Related articles

RB1 germ-line deletions in Argentine retinoblastoma patients.

Fernández C, Repetto K, Dalamon V, Bergonzi F, Ferreiro V, Szijan I.

Mol Diagn Ther. 2007;11(1):55-61.PMID: 17286450 [PubMed - indexed for MEDLINE]Related articles

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.

Valverde JR, Alonso J, Palacios I, Pestaña A.

BMC Genet. 2005 Nov 4;6:53.PMID: 16269091 [PubMed - indexed for MEDLINE]Related articlesFree article

Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.

Otterson GA, Chen W, Coxon AB, Khleif SN, Kaye FJ.

Proc Natl Acad Sci U S A. 1997 Oct 28;94(22):12036-40.PMID: 9342358 [PubMed - indexed for MEDLINE]Related articlesFree article

Growth suppression by an E2F-binding-defective retinoblastoma protein (RB): contribution from the RB C pocket.

Whitaker LL, Su H, Baskaran R, Knudsen ES, Wang JY.

Mol Cell Biol. 1998 Jul;18(7):4032-42.PMID: 9632788 [PubMed - indexed for MEDLINE]Related articlesFree article

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.

Onadim Z, Hogg A, Baird PN, Cowell JK.

Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):6177-81.PMID: 1352883 [PubMed - indexed for MEDLINE]Related articlesFree article

The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.

Lee PL, Gelbart T, West C, Halloran C, Beutler E.

Blood Cells Mol Dis. 1998 Jun;24(2):199-215.PMID: 9642100 [PubMed - indexed for MEDLINE]Related articles

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene.

Nichols KE, Houseknecht MD, Godmilow L, Bunin G, Shields C, Meadows A, Ganguly A.

Hum Mutat. 2005 Jun;25(6):566-74.PMID: 15884040 [PubMed - indexed for MEDLINE]Related articles

[Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma]

Huang Q, Dryja TP, Yandell DW.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Jun 10;15(3):139-42. Chinese. PMID: 9621119 [PubMed - indexed for MEDLINE]Related articles

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma.

Lohmann DR, Brandt B, Höpping W, Passarge E, Horsthemke B.

Hum Genet. 1994 Oct;94(4):349-54.PMID: 7927327 [PubMed - indexed for MEDLINE]Related articles

The central acidic domain of MDM2 is critical in inhibition of retinoblastoma-mediated suppression of E2F and cell growth.

Sdek P, Ying H, Zheng H, Margulis A, Tang X, Tian K, Xiao ZX.

J Biol Chem. 2004 Dec 17;279(51):53317-22. Epub 2004 Oct 13.PMID: 15485814 [PubMed - indexed for MEDLINE]Related articlesFree article

Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications.

Alonso J, García-Miguel P, Abelairas J, Mendiola M, Sarret E, Vendrell MT, Navajas A, Pestaña A.

Hum Mutat. 2001 May;17(5):412-22.PMID: 11317357 [PubMed - indexed for MEDLINE]Related articles

Structure of the human retinoblastoma gene.

Hong FD, Huang HJ, To H, Young LJ, Oro A, Bookstein R, Lee EY, Lee WH.

Proc Natl Acad Sci U S A. 1989 Jul;86(14):5502-6.PMID: 2748600 [PubMed - indexed for MEDLINE]Related articlesFree article

A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype?

Ahmad NN, Melo MB, Singh AD, Donoso LA, Shields JA.

Ophthalmic Genet. 1999 Dec;20(4):225-31.PMID: 10617920 [PubMed - indexed for MEDLINE]Related articles

A bipartite nuclear localization signal in the retinoblastoma gene product and its importance for biological activity.

Zacksenhaus E, Bremner R, Phillips RA, Gallie BL.

Mol Cell Biol. 1993 Aug;13(8):4588-99.PMID: 8336704 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients.

Alonso J, Frayle H, Menéndez I, López A, García-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestaña A.

Hum Mutat. 2005 Jan;25(1):99.PMID: 15605413 [PubMed - indexed for MEDLINE]Related articles

Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.

Otterson GA, Modi S, Nguyen K, Coxon AB, Kaye FJ.

Am J Hum Genet. 1999 Oct;65(4):1040-6.PMID: 10486322 [PubMed - indexed for MEDLINE]Related articlesFree article

Molecular basis of low-penetrance retinoblastoma.

Harbour JW.

Arch Ophthalmol. 2001 Nov;119(11):1699-704. Review.PMID: 11709023 [PubMed - indexed for MEDLINE]Related articles