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Page 1
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G. Witsch-Baumgartner M, et al. Among authors: bieth e. J Med Genet. 2008 Apr;45(4):200-9. doi: 10.1136/jmg.2007.053520. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965227
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.
Bergougnoux A, Billet A, Ka C, Heller M, Degrugillier F, Vuillaume ML, Thoreau V, Sasorith S, Bareil C, Thèze C, Ferec C, Gac GL, Bienvenu T, Bieth E, Gaston V, Lalau G, Pagin A, Malinge MC, Dufernez F, Lemonnier L, Koenig M, Fergelot P, Claustres M, Taulan-Cadars M, Kitzis A, Reboul MP, Becq F, Fanen P, Mekki C, Audrezet MP, Girodon E, Raynal C. Bergougnoux A, et al. Among authors: bieth e. J Cyst Fibros. 2023 May;22(3):515-524. doi: 10.1016/j.jcf.2022.12.003. Epub 2022 Dec 23. J Cyst Fibros. 2023. PMID: 36567205
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
Taillandier A, Cozien E, Muller F, Merrien Y, Bonnin E, Fribourg C, Simon-Bouy B, Serre JL, Bieth E, Brenner R, Cordier MP, De Bie S, Fellmann F, Freisinger P, Hesse V, Hennekam RC, Josifova D, Kerzin-Storrar L, Leporrier N, Zabot MT, Mornet E. Taillandier A, et al. Among authors: bieth e. Hum Mutat. 2000 Mar;15(3):293. doi: 10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q. Hum Mutat. 2000. PMID: 10679946
A molecular approach to dominance in hypophosphatasia.
Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E. Lia-Baldini AS, et al. Among authors: bieth e. Hum Genet. 2001 Jul;109(1):99-108. doi: 10.1007/s004390100546. Hum Genet. 2001. PMID: 11479741
Pulmonary Alveolar Microlithiasis in Children Less than 5 Years of Age.
Sigur E, Roditis L, Labouret G, Bieth E, Simon S, Martin-Blondel A, Michelet M, Mittaine M, Blanchon S. Sigur E, et al. Among authors: bieth e. J Pediatr. 2020 Feb;217:158-164.e1. doi: 10.1016/j.jpeds.2019.10.014. Epub 2019 Nov 21. J Pediatr. 2020. PMID: 31761429 Review.
127 results