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Items: 1 to 20 of 71

1.

A missense variant within BRCA1 exon 23 causing exon skipping.

Rouleau E, Lefol C, Moncoutier V, Castera L, Houdayer C, Caputo S, Bièche I, Buisson M, Mazoyer S, Stoppa-Lyonnet D, Noguès C, Lidereau R.

Cancer Genet Cytogenet. 2010 Oct 15;202(2):144-6. doi: 10.1016/j.cancergencyto.2010.07.122. No abstract available.

PMID:
20875879
2.

The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.

Millevoi S, Bernat S, Telly D, Fouque F, Gladieff L, Favre G, Vagner S, Toulas C.

Breast Cancer Res Treat. 2010 Apr;120(2):391-9. doi: 10.1007/s10549-009-0392-3. Epub 2009 Apr 30.

PMID:
19404736
3.

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

Gaildrat P, Krieger S, Théry JC, Killian A, Rousselin A, Berthet P, Frébourg T, Hardouin A, Martins A, Tosi M.

J Med Genet. 2010 Jun;47(6):398-403. doi: 10.1136/jmg.2009.074047.

PMID:
20522429
4.

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX, Cartegni L, Zhang MQ, Krainer AR.

Nat Genet. 2001 Jan;27(1):55-8.

PMID:
11137998
5.

A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.

Kanai N, Yanai F, Hirose S, Nibu K, Izuhara K, Tani T, Kubota T, Mitsudome A.

Hum Genet. 1999 Jan;104(1):36-42. Erratum in: Hum Genet 1999 Feb;104(2):196.

PMID:
10071190
6.

Missense alterations of BRCA1 gene detected in diverse cancer patients.

Shen D, Wu Y, Chillar R, Vadgama JV.

Anticancer Res. 2000 Mar-Apr;20(2B):1129-32.

PMID:
10810408
7.

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.

Perrin-Vidoz L, Sinilnikova OM, Stoppa-Lyonnet D, Lenoir GM, Mazoyer S.

Hum Mol Genet. 2002 Nov 1;11(23):2805-14.

PMID:
12393792
8.

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.

Jakubowska A, Górski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Debniak T, Hadaczek P, Scott RJ, Lubinski J.

Hum Mutat. 2001 Aug;18(2):149-56.

PMID:
11462239
9.

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.

PMID:
15459959
10.

Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.

Lo Ten Foe JR, Kruyt FA, Zweekhorst MB, Pals G, Gibson RA, Mathew CG, Joenje H, Arwert F.

Hum Mutat. 1998;Suppl 1:S25-7. No abstract available.

PMID:
9452030
11.

Marsupial BRCA1: conserved regions in mammals and the potential effect of missense changes.

Ramirez CJ, Fleming MA, Potter JD, Ostrander GK, Ostrander EA.

Oncogene. 2004 Mar 4;23(9):1780-8.

PMID:
15001988
12.

Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

Li SS, Tseng HM, Yang TP, Liu CH, Teng SJ, Huang HW, Chen LM, Kao HW, Chen JH, Tseng JN, Chen A, Hou MF, Huang TJ, Chang HT, Mok KT, Tsai JH.

Hum Genet. 1999 Mar;104(3):201-4.

PMID:
10323242
13.

Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.

Yang Y, Swaminathan S, Martin BK, Sharan SK.

Hum Mol Genet. 2003 Sep 1;12(17):2121-31. Epub 2003 Jul 8.

PMID:
12915465
14.

Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).

Willems P, Magri V, Cretnik M, Fasano M, Jakubowska A, Levanat S, Lubinski J, Marras E, Musani V, Thierens H, Vandersickel V, Perletti G, Vral A.

Int J Oncol. 2009 Apr;34(4):1005-15.

PMID:
19287957
15.

[Study of BRCA1 and BRCA2 gene mutations in human sporadic breast cancers].

Zhang HT, Lu YF, Zeng J, Lin J, Liao QH, Wan FQ.

Zhonghua Wai Ke Za Zhi. 2007 Apr 1;45(7):480-2. Chinese.

PMID:
17686308
16.

An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10.

Rohlfs EM, Puget N, Graham ML, Weber BL, Garber JE, Skrzynia C, Halperin JL, Lenoir GM, Silverman LM, Mazoyer S.

Genes Chromosomes Cancer. 2000 Jul;28(3):300-7.

PMID:
10862036
17.

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping.

Demirci FY, Radak AL, Rigatti BW, Mah TS, Gorin MB.

Am J Ophthalmol. 2004 Sep;138(3):504-5.

PMID:
15364249
18.

Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.

Santos C, Peixoto A, Rocha P, Vega A, Soares MJ, Cerveira N, Bizarro S, Pinheiro M, Pereira D, Rodrigues H, Castro F, Henrique R, Teixeira MR.

Fam Cancer. 2009;8(3):203-8. doi: 10.1007/s10689-008-9229-1. Epub 2009 Jan 3.

PMID:
19123044
19.

Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

Andersen TI, Eiken HG, Couch F, Kaada G, Skrede M, Johnsen H, Aloysius TA, Tveit KM, Tranebjaerg L, Dørum A, Møller P, Weber BL, Børresen-Dale AL.

Hum Mutat. 1998;11(2):166-74.

PMID:
9482581
20.

Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a.

Lim SH, Poh LK, Cowell CT, Tey BH, Loke KY.

J Pediatr Endocrinol Metab. 2002 Mar;15(3):259-68.

PMID:
11926205

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