Lamoril J - Search Results

1

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Gouya L, et al. Among authors: lamoril j. Hum Genet. 2004 Feb;114(3):256-62. doi: 10.1007/s00439-003-1059-5. Epub 2003 Dec 11. Hum Genet. 2004. PMID: 14669009

2

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.

Gouya L, Puy H, Robreau AM, Bourgeois M, Lamoril J, Da Silva V, Grandchamp B, Deybach JC. Gouya L, et al. Among authors: lamoril j. Nat Genet. 2002 Jan;30(1):27-8. doi: 10.1038/ng809. Epub 2001 Dec 20. Nat Genet. 2002. PMID: 11753383

3

Combined factor V leiden (G1691A) and prothrombin (G20210A) genotyping by multiplex real-time polymerase chain reaction using fluorescent resonance energy transfer hybridization probes on the Rotor-Gene 2000.

Ameziane N, Lamotte M, Lamoril J, Lebret D, Deybach JC, Kaiser T, de Prost D. Ameziane N, et al. Among authors: lamoril j. Blood Coagul Fibrinolysis. 2003 Jun;14(4):421-4. doi: 10.1097/00001721-200306000-00016. Blood Coagul Fibrinolysis. 2003. PMID: 12945887

4

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H. Schmitt C, et al. Among authors: lamoril j. Hum Mol Genet. 2005 Oct 15;14(20):3089-98. doi: 10.1093/hmg/ddi342. Epub 2005 Sep 13. Hum Mol Genet. 2005. PMID: 16159891

5

The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohn's disease.

Sabate JM, Ameziane N, Lamoril J, Jouet P, Farmachidi JP, Soulé JC, Harnois F, Sobhani I, Jian R, Deybach JC, de Prost D, Coffin B. Sabate JM, et al. Among authors: lamoril j. Eur J Gastroenterol Hepatol. 2008 Aug;20(8):748-55. doi: 10.1097/MEG.0b013e3282f824c9. Eur J Gastroenterol Hepatol. 2008. PMID: 18617779

6

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.

Tchernitchko D, Tavernier Q, Lamoril J, Schmitt C, Talbi N, Lyoumi S, Robreau AM, Karim Z, Gouya L, Thervet E, Karras A, Puy H, Pallet N. Tchernitchko D, et al. Among authors: lamoril j. J Am Soc Nephrol. 2017 Jun;28(6):1924-1932. doi: 10.1681/ASN.2016080918. Epub 2016 Dec 28. J Am Soc Nephrol. 2017. PMID: 28031405 Free PMC article.

7

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

Lenglet H, Schmitt C, Grange T, Manceau H, Karboul N, Bouchet-Crivat F, Robreau AM, Nicolas G, Lamoril J, Simonin S, Mirmiran A, Karim Z, Casalino E, Deybach JC, Puy H, Peoc'h K, Gouya L. Lenglet H, et al. Among authors: lamoril j. Hum Mol Genet. 2018 Apr 1;27(7):1164-1173. doi: 10.1093/hmg/ddy030. Hum Mol Genet. 2018. PMID: 29360981

8

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD. Farrell CP, et al. Among authors: lamoril j. Blood Adv. 2022 Feb 8;6(3):760-766. doi: 10.1182/bloodadvances.2021005484. Blood Adv. 2022. PMID: 34724702 Free PMC article.

9

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.

de Gennes C, Lamoril J, Borgel A, Boi C, Yao R, Boileau C, Tchernitchko D. de Gennes C, et al. Among authors: lamoril j. Br J Haematol. 2022 Jan;196(2):e17-e20. doi: 10.1111/bjh.17810. Epub 2021 Sep 6. Br J Haematol. 2022. PMID: 34490613 No abstract available.

10

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients.

Borgel A, Lamoril J, Tchernitchko D. Borgel A, et al. Among authors: lamoril j. Clin Res Hepatol Gastroenterol. 2020 Apr;44(2):239-241. doi: 10.1016/j.clinre.2019.09.007. Epub 2019 Oct 19. Clin Res Hepatol Gastroenterol. 2020. PMID: 31640930 No abstract available.

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