Parmentier L - Search Results

1

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC. Basmanav FB, et al. Among authors: parmentier l. Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003. Am J Hum Genet. 2014. PMID: 24387993 Free PMC article.

2

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.

Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI. Bonilla X, et al. Among authors: parmentier l. Nat Genet. 2016 Apr;48(4):398-406. doi: 10.1038/ng.3525. Epub 2016 Mar 7. Nat Genet. 2016. PMID: 26950094

3

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.

Parmentier L, Blanchet-Bardon C, Nguyen S, Prud'homme JF, Dubertret L, Weissenbach J. Parmentier L, et al. Hum Mol Genet. 1995 Aug;4(8):1391-5. doi: 10.1093/hmg/4.8.1391. Hum Mol Genet. 1995. PMID: 7581379

4

Subtype-Specific Analyses Reveal Infiltrative Basal Cell Carcinomas Are Highly Interactive with their Environment.

Villani R, Murigneux V, Alexis J, Sim SL, Wagels M, Saunders N, Soyer HP, Parmentier L, Nikolaev S, Fink JL, Roy E, Khosrotehrani K. Villani R, et al. Among authors: parmentier l. J Invest Dermatol. 2021 Oct;141(10):2380-2390. doi: 10.1016/j.jid.2021.02.760. Epub 2021 Apr 15. J Invest Dermatol. 2021. PMID: 33865912 Free article.

5

Facial basal cell carcinomas recurring after photodynamic therapy: a retrospective analysis of histological subtypes.

Fiechter S, Skaria A, Nievergelt H, Anex R, Borradori L, Parmentier L. Fiechter S, et al. Among authors: parmentier l. Dermatology. 2012;224(4):346-51. doi: 10.1159/000339335. Epub 2012 Jun 29. Dermatology. 2012. PMID: 22759732 Free article.

6

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.

Parmentier L, Lakhdar H, Blanchet-Bardon C, Marchand S, Dubertret L, Weissenbach J. Parmentier L, et al. Hum Mol Genet. 1996 Apr;5(4):555-9. doi: 10.1093/hmg/5.4.555. Hum Mol Genet. 1996. PMID: 8845852

7

Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.

Parmentier L, Clepet C, Boughdene-Stambouli O, Lakhdar H, Blanchet-Bardon C, Dubertret L, Wunderle E, Pulcini F, Fizames C, Weissenbach J. Parmentier L, et al. Eur J Hum Genet. 1999 Jan;7(1):77-87. doi: 10.1038/sj.ejhg.5200271. Eur J Hum Genet. 1999. PMID: 10094194

8

Analysis of multiple basal cell carcinomas (BCCs) arising in one individual highlights genetic tumor heterogeneity and identifies novel driver mutations.

Xie P, Lefrançois P, Sasseville D, Parmentier L, Litvinov IV. Xie P, et al. Among authors: parmentier l. J Cell Commun Signal. 2022 Dec;16(4):633-635. doi: 10.1007/s12079-022-00679-x. Epub 2022 Apr 12. J Cell Commun Signal. 2022. PMID: 35414145 Free PMC article.

9

Inhibition of IkappaB kinase subunit 2 in cutaneous T-cell lymphoma down-regulates nuclear factor-kappaB constitutive activation, induces cell death, and potentiates the apoptotic response to antineoplastic chemotherapeutic agents.

Sors A, Jean-Louis F, Bégué E, Parmentier L, Dubertret L, Dreano M, Courtois G, Bachelez H, Michel L. Sors A, et al. Among authors: parmentier l. Clin Cancer Res. 2008 Feb 1;14(3):901-11. doi: 10.1158/1078-0432.CCR-07-1419. Clin Cancer Res. 2008. PMID: 18245554

10

Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.

Parmentier L, Tomlinson I, Happle R, Borradori L. Parmentier L, et al. Dermatology. 2010;221(2):149-53. doi: 10.1159/000315068. Epub 2010 Jul 13. Dermatology. 2010. PMID: 20628236 Free article.

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