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Page 1
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
Girard M, Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, Jeanpierre C, Henry C, Fabre M, Viremouneix L, Galmiche L, Debray D, Bole-Feysot C, Nitschke P, Pariente D, Guettier C, Lyonnet S, Heidet L, Bertholet A, Jacquemin E, Henrion-Caude A, Saunier S. Girard M, et al. Among authors: lachaux a. Hum Mutat. 2016 Oct;37(10):1025-9. doi: 10.1002/humu.23031. Epub 2016 Aug 24. Hum Mutat. 2016. PMID: 27319779
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis.
Hamada S, Masson E, Chen JM, Sakaguchi R, Rebours V, Buscail L, Matsumoto R, Tanaka Y, Kikuta K, Kataoka F, Sasaki A, Le Rhun M, Audin H, Lachaux A, Caumont B, Lorenzo D, Billiemaz K, Besnard R, Koch S, Lamireau T, De Koninck X; GREPAN (Genetic REsearch on PANcreatitis) Study Group; Génin E, Cooper DN, Mori Y, Masamune A, Férec C. Hamada S, et al. Among authors: lachaux a. Hum Mutat. 2022 Feb;43(2):228-239. doi: 10.1002/humu.24315. Epub 2021 Dec 28. Hum Mutat. 2022. PMID: 34923708
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C. Fabre A, et al. Among authors: lachaux a. Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17. Hum Mutat. 2011. PMID: 21120949
ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
Joly P, Vignaud H, Di Martino J, Ruiz M, Garin R, Restier L, Belmalih A, Marchal C, Cullin C, Arveiler B, Fergelot P, Gitler AD, Lachaux A, Couthouis J, Bouchecareilh M. Joly P, et al. Among authors: lachaux a. PLoS One. 2017 Jun 15;12(6):e0179369. doi: 10.1371/journal.pone.0179369. eCollection 2017. PLoS One. 2017. PMID: 28617828 Free PMC article.
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Couchonnal E, Bouchard S, Sandahl TD, Pagan C, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Brunet AS, Lachaux A, Bost M. Couchonnal E, et al. Among authors: lachaux a. Eur J Med Genet. 2021 Oct;64(10):104305. doi: 10.1016/j.ejmg.2021.104305. Epub 2021 Aug 13. Eur J Med Genet. 2021. PMID: 34400371
[Chronic granulomatosis].
Lachaux A, Fournier V. Lachaux A, et al. Pediatrie. 1993;48(6):489. Pediatrie. 1993. PMID: 8247652 French. No abstract available.
310 results