Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

56 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.
Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G. Reis AF, et al. Among authors: oudin c. Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7. Pediatr Diabetes. 2011. PMID: 21518408
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, Iolascon A, Grandchamp B, Sanchez M. De Falco L, et al. Among authors: oudin c. Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25156943
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.
Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B, Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B, Nicolas G. Guillem F, et al. Among authors: oudin c. Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30. Hum Mutat. 2012. PMID: 22581667 Free article.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G. Callebaut I, et al. Among authors: oudin c. Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8. Hum Mol Genet. 2014. PMID: 24714983
A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway.
Martín-Núñez E, Donate-Correa J, Kannengiesser C, De Brauwere DP, Leroy C, Oudin C, Friedlander G, Prieto-Morín C, Tagua VG, Ureña-Torres PA, Navarro-González JF. Martín-Núñez E, et al. Among authors: oudin c. J Clin Med. 2019 Apr 12;8(4):500. doi: 10.3390/jcm8040500. J Clin Med. 2019. PMID: 31013726 Free PMC article.
Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.
Rose C, Callebaut I, Pascal L, Oudin C, Fournier M, Gouya L, Lambilliotte A, Kannengiesser C. Rose C, et al. Among authors: oudin c. Br J Haematol. 2017 Aug;178(4):648-651. doi: 10.1111/bjh.14164. Epub 2016 Jun 13. Br J Haematol. 2017. PMID: 27292130 Free article. No abstract available.
56 results