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Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
Int J Mol Sci. 2011;12(12):9471-80. doi: 10.3390/ijms12129471. Epub 2011 Dec 19.
Int J Mol Sci. 2011.
PMID: 22272144
Free PMC article.
Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.
Smith LD, Leme de Calais F, Raponi M, Mellone M, Buratti E, Blaydes JP, Baralle D.
Smith LD, et al.
Int J Cancer. 2017 Apr 1;140(7):1564-1570. doi: 10.1002/ijc.30574. Epub 2017 Jan 30.
Int J Cancer. 2017.
PMID: 27997688
Free article.
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Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants.
Ruiz de Garibay G, Fernandez-Garcia I, Mazoyer S, Leme de Calais F, Ameri P, Vijayakumar S, Martinez-Ruiz H, Damiola F, Barjhoux L, Thomassen M, Andersen LVB, Herranz C, Mateo F, Palomero L, Espín R, Gómez A, García N, Jimenez D, Bonifaci N, Extremera AI, Castaño J, Raya A, Eyras E, Puente XS, Brunet J, Lázaro C; GEMO; CIMBA; Radice P, Barnes DR, Antoniou AC, Spurdle AB, de la Hoya M, Baralle D, Barcellos-Hoff MH, Pujana MA.
Ruiz de Garibay G, et al.
Hum Mutat. 2021 Nov;42(11):1488-1502. doi: 10.1002/humu.24276. Epub 2021 Aug 31.
Hum Mutat. 2021.
PMID: 34420246
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