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Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Orhant L, Anselem O, Fradin M, Becker PH, Beugnet C, Deburgrave N, Tafuri G, Letourneur F, Goffinet F, Allach El Khattabi L, Leturcq F, Bienvenu T, Tsatsaris V, Nectoux J. Orhant L, et al. Among authors: beugnet c. Prenat Diagn. 2016 May;36(5):397-406. doi: 10.1002/pd.4790. Epub 2016 Apr 7. Prenat Diagn. 2016. PMID: 26850935 Free article.
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J. Trabelsi M, et al. Among authors: beugnet c. Eur J Hum Genet. 2008 Jul;16(7):793-803. doi: 10.1038/ejhg.2008.9. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285821
When a mid-intronic variation of DMD gene creates an ESE site.
Trabelsi M, Beugnet C, Deburgrave N, Commere V, Orhant L, Leturcq F, Chelly J. Trabelsi M, et al. Among authors: beugnet c. Neuromuscul Disord. 2014 Dec;24(12):1111-7. doi: 10.1016/j.nmd.2014.07.003. Epub 2014 Aug 1. Neuromuscul Disord. 2014. PMID: 25193336
Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report.
Terrier B, Colombat M, Beugnet C, Quéant A, London J, Daudin JB, Le Jeunne C, Mouthon L, Monnet D, Cauquil C, Lacroix C, Adams D, Brézin A, Valleix S. Terrier B, et al. Among authors: beugnet c. J Med Case Rep. 2017 Aug 13;11(1):222. doi: 10.1186/s13256-017-1407-z. J Med Case Rep. 2017. PMID: 28802308 Free PMC article.
New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.
Colombat M, Aldigier JC, Rothschild PR, Javaugue V, Desport E, Frouget T, Goujon JM, Rioux-Leclercq N, Quellard N, Rerolle JP, Paraf F, Beugnet C, Tiple A, Durrbach A, Samuel D, Brézin A, Bridoux F, Valleix S. Colombat M, et al. Among authors: beugnet c. Kidney Int. 2020 Jul;98(1):195-208. doi: 10.1016/j.kint.2020.03.033. Epub 2020 Apr 23. Kidney Int. 2020. PMID: 32571483
VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.
Garnier C, Briki F, Nedelec B, Le Pogamp P, Dogan A, Rioux-Leclercq N, Goude R, Beugnet C, Martin L, Delpech M, Bridoux F, Grateau G, Doucet J, Derreumaux P, Valleix S. Garnier C, et al. Among authors: beugnet c. Blood. 2017 Dec 21;130(25):2799-2807. doi: 10.1182/blood-2017-07-796185. Epub 2017 Oct 31. Blood. 2017. PMID: 29089309 Free PMC article.
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