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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: lamaziere a. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 Free article.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C. Lefebvre M, et al. Among authors: lamaziere a. Prenat Diagn. 2015 Jul;35(7):675-84. doi: 10.1002/pd.4591. Epub 2015 Mar 30. Prenat Diagn. 2015. PMID: 25754886
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.
Pacault M, Vincent M, Besnard T, Kannengiesser C, Bénéteau C, Barbarot S, Latypova X, Belabbas K, Lamazière A, Winer N, Joubert M, Bézieau S, Isidor B, Mercier S, Nizon M, Leclerc-Mercier S, Hadj-Rabia S, Dufernez F. Pacault M, et al. Among authors: lamaziere a. Eur J Hum Genet. 2018 Dec;26(12):1784-1790. doi: 10.1038/s41431-018-0217-0. Epub 2018 Aug 22. Eur J Hum Genet. 2018. PMID: 30135486 Free PMC article.
Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
Leclerc-Mercier S, Dufernez F, Fraitag S, Coulombe J, Dompmartin A, Barreau M, Bozon D, Lamazière A, Bonnefont JP, Khalifa E, Bodemer C, Hadj-Rabia S. Leclerc-Mercier S, et al. Among authors: lamaziere a. Br J Dermatol. 2015 Nov;173(5):1316-8. doi: 10.1111/bjd.13948. Epub 2015 Oct 5. Br J Dermatol. 2015. PMID: 26075358 No abstract available.
The Goto-Kakizaki rat is a spontaneous prototypical rodent model of polycystic ovary syndrome.
Bourgneuf C, Bailbé D, Lamazière A, Dupont C, Moldes M, Farabos D, Roblot N, Gauthier C, Mathieu d'Argent E, Cohen-Tannoudji J, Monniaux D, Fève B, Movassat J, di Clemente N, Racine C. Bourgneuf C, et al. Among authors: lamaziere a. Nat Commun. 2021 Feb 16;12(1):1064. doi: 10.1038/s41467-021-21308-y. Nat Commun. 2021. PMID: 33594056 Free PMC article.
Identification of bronchoalveolar and blood immune-inflammatory biomarker signature associated with poor 28-day outcome in critically ill COVID-19 patients.
Voiriot G, Dorgham K, Bachelot G, Fajac A, Morand-Joubert L, Parizot C, Gerotziafas G, Farabos D, Trugnan G, Eguether T, Blayau C, Djibré M, Elabbadi A, Gibelin A, Labbé V, Parrot A, Turpin M, Cadranel J, Gorochov G, Fartoukh M, Lamazière A. Voiriot G, et al. Among authors: lamaziere a. Sci Rep. 2022 Jun 9;12(1):9502. doi: 10.1038/s41598-022-13179-0. Sci Rep. 2022. PMID: 35681070 Free PMC article.
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