Detalhe da pesquisa
1.
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Pancreatology
; 23(1): 48-56, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36517351
2.
Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
BMC Pregnancy Childbirth
; 18(1): 53, 2018 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454332
3.
Measures to improve microbial quality surveillance of gastrointestinal endoscopes.
Endoscopy
; 48(8): 704-10, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27200525
4.
Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.
J Hepatol
; 62(3): 664-72, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25457201
5.
Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.
Genet Med
; 17(2): 108-16, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25122143
6.
Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.
Transfus Med Hemother
; 42(6): 372-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26733768
7.
GNPAT polymorphism rs11558492 is not associated with increased severity in a large cohort of HFE p.Cys282Tyr homozygous patients.
Hepatology
; 65(3): 1069-1071, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27474861
8.
Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.
Am J Hematol
; 92(12): E664-E666, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29084376
9.
Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
Prenat Diagn
; 32(1): 21-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22052729
10.
Prevalence of HFE-related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection.
Aliment Pharmacol Ther
; 55(8): 1016-1027, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35122291
11.
A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.
Blood Cells Mol Dis
; 44(1): 34-7, 2010 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19879168
12.
HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients.
Ann Hematol
; 94(7): 1225-7, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740382
13.
Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.
Am J Obstet Gynecol
; 203(6): 592.e1-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20932506
14.
Newborn Screening for CF across the Globe-Where Is It Worthwhile?
Int J Neonatal Screen
; 6(1): 18, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073015
15.
The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.
Genes (Basel)
; 11(6)2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32466381
16.
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.
Hum Genet
; 123(1): 83-91, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18172691
17.
Time trends in birth incidence of cystic fibrosis in two European areas: data from newborn screening programs.
J Pediatr
; 152(1): 25-32, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18154893
18.
Estimating the age of CFTR mutations predominantly found in Brittany (Western France).
J Cyst Fibros
; 7(2): 168-73, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17825628
19.
Primary sclerosing cholangitis is associated with abnormalities in CFTR.
J Cyst Fibros
; 17(5): 666-671, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29807875
20.
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.
Hum Genet
; 122(5): 467-76, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17717707