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Page 1
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
Mackay D, Bliek J, Kagami M, Tenorio-Castano J, Pereda A, Brioude F, Netchine I, Papingi D, de Franco E, Lever M, Sillibourne J, Lombardi P, Gaston V, Tauber M, Diene G, Bieth E, Fernandez L, Nevado J, Tümer Z, Riccio A, Maher ER, Beygo J, Tannorella P, Russo S, de Nanclares GP, Temple IK, Ogata T, Lapunzina P, Eggermann T. Mackay D, et al. Among authors: bieth e. Clin Epigenetics. 2022 Nov 7;14(1):143. doi: 10.1186/s13148-022-01358-9. Clin Epigenetics. 2022. PMID: 36345041 Free PMC article.
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.
Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.
Carelle-Calmels N, Girard-Lemaire F, Guérin E, Bieth E, Rudolf G, Biancalana V, Pecheur H, Demil H, Schneider T, de Saint-Martin A, Caron O, Legrain M, Gaston V, Flori E. Carelle-Calmels N, et al. Among authors: bieth e. Eur J Med Genet. 2008 Nov-Dec;51(6):547-57. doi: 10.1016/j.ejmg.2008.07.003. Epub 2008 Jul 22. Eur J Med Genet. 2008. PMID: 18692163
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC. Gribouval O, et al. Among authors: bieth e. Nat Genet. 2005 Sep;37(9):964-8. doi: 10.1038/ng1623. Epub 2005 Aug 14. Nat Genet. 2005. PMID: 16116425
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
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Claustres M, et al. Among authors: bieth e. Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10923036
127 results