Search details
1.
A newly identified ferritin L-subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
Am J Hematol
; 99(1): 12-20, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37867341
2.
A simple clinical score to promote and enhance ferroportin disease screening.
J Hepatol
; 76(3): 568-576, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34748893
3.
GGCX-related congenital combined vitamin K-dependent clotting factors deficiency-1: Description of a fetus with chondrodysplasia punctata.
Am J Med Genet A
; 188(1): 314-318, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34558179
4.
Serious Ivermectin Toxicity and Human ABCB1 Nonsense Mutations.
N Engl J Med
; 383(8): 787-789, 2020 08 20.
Article
in English
| MEDLINE | ID: mdl-32813957
5.
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
Eur J Haematol
; 101(4): 566-569, 2018 Oct.
Article
in English
| MEDLINE | ID: mdl-29969830
6.
The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.
Liver Int
; 36(5): 746-54, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26474245
7.
A case of inter-assay HbA1c discrepancy due to Hemoglobin G-Copenhagen.
Clin Chim Acta
; 535: 27-29, 2022 Oct 01.
Article
in English
| MEDLINE | ID: mdl-35963305
8.
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
Haematologica
; 96(4): 507-14, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21228038
9.
The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.
Haematologica
; 95(4): 551-6, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20145272
10.
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.
Br J Haematol
; 162(2): 278-81, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23600741
11.
Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
Haematologica
; 98(4): e42-3, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23300176
12.
Porphyria cutanea tarda and spherocytosis: a non-random association?
Acta Derm Venereol
; 93(3): 377-8, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23093332
13.
Hepcidin: immunoanalytic characteristics.
Ann Biol Clin (Paris)
; 76(6): 705-715, 2018 Dec 01.
Article
in English
| MEDLINE | ID: mdl-30257815
14.
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.
Haematologica
; 92(3): 421-2, 2007 Mar.
Article
in English
| MEDLINE | ID: mdl-17339196
15.
Added value of hepcidin quantification for the diagnosis and follow-up of anemia-related diseases.
Ann Biol Clin (Paris)
; 75(1): 9-18, 2017 Feb 01.
Article
in English
| MEDLINE | ID: mdl-28132948
16.
Hemojuvelin and hepcidin gene mutations in patients with porphyria cutanea tarda from Southern France.
Acta Derm Venereol
; 91(1): 66-7, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21088809
17.
Absence of functional mutations in the ferroportin-encoding SLC40A1 gene in porphyria cutanea tarda: a series of 37 cases from southern France.
Acta Derm Venereol
; 91(4): 467, 2011 Jun.
Article
in English
| MEDLINE | ID: mdl-21607294
18.
Letrozole sensitizes breast cancer cells to ionizing radiation.
Breast Cancer Res
; 7(1): R156-63, 2005.
Article
in English
| MEDLINE | ID: mdl-15642164
19.
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
Haematologica
; 95(4): 687-8, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20007134
20.
A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening.
Am J Hematol
; 82(12): 1088-90, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-17665502