Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2011 | 1 |
2014 | 1 |
2017 | 2 |
2021 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
A study of splicing mutations in disorders of sex development.
Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3.
Sci Rep. 2017.
PMID: 29176693
Free PMC article.
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. Among authors: leme de calais f.
Hum Mutat. 2021 Nov;42(11):1488-1502. doi: 10.1002/humu.24276. Epub 2021 Aug 31.
Hum Mutat. 2021.
PMID: 34420246
Item in Clipboard
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. Among authors: leme de calais f.
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.
Item in Clipboard
Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development.
Leme de Calais FL, Soardi FC, Petroli RJ, Lusa AL, de Paiva E Silva RB, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP.
Leme de Calais FL, et al.
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.
Item in Clipboard
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
Fabbri HC, de Andrade JG, Soardi FC, de Calais FL, Petroli RJ, Maciel-Guerra AT, Guerra-Júnior G, de Mello MP.
Fabbri HC, et al. Among authors: de calais fl.
BMC Med Genet. 2014 Jan 10;15:7. doi: 10.1186/1471-2350-15-7.
BMC Med Genet. 2014.
PMID: 24405868
Free PMC article.
Item in Clipboard
Cite
Cite