Detalhe da pesquisa
1.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Fetal Diagn Ther
; 45(6): 403-412, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121677
2.
Thirteen years' experience of 893 PGD cycles for monogenic disorders in a publicly funded, nationally regulated regional hospital service.
Reprod Biomed Online
; 36(2): 154-163, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203382
3.
Germline mosaicism is a pitfall in PGD for X-linked disorders. Single sperm typing detects very low frequency paternal gonadal mosaicism in a case of recurrent chondrodysplasia punctata misattributed to a maternal origin.
Prenat Diagn
; 37(2): 201-205, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27943351
4.
Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis.
Eur Respir J
; 45(1): 116-28, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25186262
5.
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens.
J Med Genet
; 48(3): 152-9, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20972246
6.
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Eur J Hum Genet
; 24(4): 469-78, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26014425
7.
Should diffuse bronchiectasis still be considered a CFTR-related disorder?
J Cyst Fibros
; 14(5): 646-53, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25797027
8.
Phosphorylated C/EBPß influences a complex network involving YY1 and USF2 in lung epithelial cells.
PLoS One
; 8(4): e60211, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23560079
9.
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.
Eur J Hum Genet
; 20(2): 180-4, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21847140
10.
Lethal factor VII deficiency due to novel mutations in the F7 promoter: functional analysis reveals disruption of HNF4 binding site.
Thromb Haemost
; 108(2): 277-83, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22628013
11.
Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.
Gene
; 500(2): 194-8, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22484595