263 related articles for article (PubMed ID: 18000883)
1. Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes.
Gámez-Pozo A; Palacios I; Kontic M; Menéndez I; Camino I; García-Miguel P; Abelairas J; Pestaña A; Alonso J
Hum Mutat; 2007 Dec; 28(12):1245. PubMed ID: 18000883
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 15884040
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 11317357
[TBL] [Abstract][Full Text] [Related]
4. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Dehainault C; Michaux D; Pagès-Berhouet S; Caux-Moncoutier V; Doz F; Desjardins L; Couturier J; Parent P; Stoppa-Lyonnet D; Gauthier-Villars M; Houdayer C
Eur J Hum Genet; 2007 Apr; 15(4):473-7. PubMed ID: 17299438
[TBL] [Abstract][Full Text] [Related]
5. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
6. Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation.
Brichard B; Heusterspreute M; De Potter P; Chantrain C; Vermylen C; Sibille C; Gala JL
Eur J Cancer; 2006 Jan; 42(1):65-72. PubMed ID: 16343894
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 16988938
[TBL] [Abstract][Full Text] [Related]
8. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
Zhang K; Nowak I; Rushlow D; Gallie BL; Lohmann DR
Hum Mutat; 2008 Apr; 29(4):475-84. PubMed ID: 18181215
[TBL] [Abstract][Full Text] [Related]
9. Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma.
Jakubowska A; Zajaczek S; Haus O; Limon J; Kostyk E; Krzystolik Z; Lubinski J
Hum Mutat; 2001 Nov; 18(5):459. PubMed ID: 11668642
[TBL] [Abstract][Full Text] [Related]
10. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
[TBL] [Abstract][Full Text] [Related]
11. [From gene to disease; retinoblastoma and the RB1 gene].
Scheffer H; Imhof SM; Moll AC
Ned Tijdschr Geneeskd; 2001 Jun; 145(26):1245-7. PubMed ID: 11455690
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 15605413
[TBL] [Abstract][Full Text] [Related]
13. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
Bonnet C; Krieger S; Vezain M; Rousselin A; Tournier I; Martins A; Berthet P; Chevrier A; Dugast C; Layet V; Rossi A; Lidereau R; Frébourg T; Hardouin A; Tosi M
J Med Genet; 2008 Jul; 45(7):438-46. PubMed ID: 18424508
[TBL] [Abstract][Full Text] [Related]
14. Identification of three new mutations in the RB1 gene in patients with sporadic retinoblastoma in Colombia.
Serrano ML; Yunis JJ
Biomedica; 2013; 33(1):53-61. PubMed ID: 23715307
[TBL] [Abstract][Full Text] [Related]
15. Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
Vega AI; Pérez-Cerdá C; Desviat LR; Matthijs G; Ugarte M; Pérez B
Hum Mutat; 2009 May; 30(5):795-803. PubMed ID: 19235233
[TBL] [Abstract][Full Text] [Related]
16. 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; 6():53. PubMed ID: 16269091
[TBL] [Abstract][Full Text] [Related]
17. Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. Mutations in brief no. 206. Online.
Yilmaz S; Horsthemke B; Lohmann DR
Hum Mutat; 1998; 12(6):434. PubMed ID: 10671068
[TBL] [Abstract][Full Text] [Related]
18. Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations.
Kiran VS; Kannabiran C; Chakravarthi K; Vemuganti GK; Honavar SG
Hum Mutat; 2003 Oct; 22(4):339. PubMed ID: 12955724
[TBL] [Abstract][Full Text] [Related]
19. Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression.
Albrecht P; Ansperger-Rescher B; Schüler A; Zeschnigk M; Gallie B; Lohmann DR
Hum Mutat; 2005 Nov; 26(5):437-45. PubMed ID: 16127685
[TBL] [Abstract][Full Text] [Related]
20. Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening.
Harbour JW
Ophthalmology; 1998 Aug; 105(8):1442-7. PubMed ID: 9709755
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]