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1.
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.
Pancreatology
; 23(5): 507-511, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37270400
2.
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Blood Cells Mol Dis
; 87: 102527, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33341511
3.
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility.
J Med Genet
; 57(10): 708-716, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32161152
4.
Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.
FASEB J
; 33(12): 14625-14635, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31690120
5.
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype.
Transfusion
; 59(4): 1367-1375, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30811032
6.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Clin Genet
; 103(3): 377-379, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36444497
7.
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.
Haematologica
; 103(11): 1796-1805, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30002125
8.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Hum Mol Genet
; 23(17): 4479-90, 2014 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24714983
9.
Phenotypic expression of a novel C282Y/R226G compound heterozygous state in HFE hemochromatosis: molecular dynamics and biochemical studies.
Blood Cells Mol Dis
; 52(1): 27-34, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23953397
10.
Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
Hum Mutat
; 34(10): 1371-80, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23784628
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27474861
12.
The p.Leu96Pro Missense Mutation in the BMP6 Gene Is Repeatedly Associated With Hyperferritinemia in Patients of French Origin.
Gastroenterology
; 151(4): 769-70, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27590690
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29084376
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35122291
15.
Characterization of the second HFE gross deletion highlights the potential importance of Alu-mediated recombination in haemochromatosis.
Br J Haematol
; 168(5): 759-62, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25284364
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-19879168
17.
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype.
Blood
; 112(13): 5238-40, 2008 Dec 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18809761
18.
HFE hemochromatosis: influence of dietary iron intake on the iron overload of C282Y homozygous patients.
Ann Hematol
; 94(7): 1225-7, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25740382
19.
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
Ann Clin Transl Neurol
; 7(9): 1574-1579, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33245593
20.
A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.
Br J Haematol
; 147(3): 379-85, 2009 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-19709084