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Page 1
Actionable Genes, Core Databases, and Locus-Specific Databases.
Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G. Pinard A, et al. Among authors: blanchard a. Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26. Hum Mutat. 2016. PMID: 27600092
Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
Miltgen M, Blanchard A, Mathieu H, Kreisler A, Jean-Pierre-Desvignes, Salgado D, Roubertie A, Barre L, Rai G, Blanck V, Frederic M, Douay X, Mazzolenni R, Charpentier P, Gonzalez V, Destée A, Béroud C, Collod-Béroud G. Miltgen M, et al. Among authors: blanchard a. Mov Disord. 2016 Aug;31(8):1251-2. doi: 10.1002/mds.26717. Epub 2016 Jul 9. Mov Disord. 2016. PMID: 27392807 Free article. No abstract available.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Among authors: blanchard a. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
High prevalence of mutations in perilipin 1 in patients with precocious acute coronary syndrome.
Bonello-Palot N, Laine M, Cuisset T, Ronchard T, Desgrouas C, Merono F, Ibrahim-Kosta M, Cerino M, Blanchard A, Bourgeois P, Levy N, Loundou A, Morange PE, Alessi MC, Badens C, Bonello L. Bonello-Palot N, et al. Among authors: blanchard a. Atherosclerosis. 2020 Jan;293:86-91. doi: 10.1016/j.atherosclerosis.2019.12.002. Epub 2019 Dec 12. Atherosclerosis. 2020. PMID: 31877397 Free article.
[Monogenetic dystonia: revisiting the dopaminergic hypothesis].
Blanchard A, Roubertie A, Frédéric MY, Claustres M, Collod-Béroud G. Blanchard A, et al. Rev Neurol (Paris). 2010 Apr;166(4):389-99. doi: 10.1016/j.neurol.2009.09.007. Rev Neurol (Paris). 2010. PMID: 19836812 Free article. Review. French.
The p.Asp216His TOR1A allele effect is not found in the French population.
Frédéric MY, Clot F, Blanchard A, Dhaenens CM, Lesca G, Cif L, Dürr A, Vidailhet M, Sablonniere B, Calender A, Martinez M, Molinari N, Brice A, Claustres M, Tuffery-Giraud S, Collod-Beroud G. Frédéric MY, et al. Among authors: blanchard a. Mov Disord. 2009 Apr 30;24(6):919-21. doi: 10.1002/mds.22407. Mov Disord. 2009. PMID: 19260107 Free article.
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G. Frédéric MY, et al. Among authors: blanchard a. Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322712 Free article.
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations.
Blanchard A, Roubertie A, Simonetta-Moreau M, Ea V, Coquart C, Frederic MY, Gallouedec G, Adenis JP, Benatru I, Borg M, Burbaud P, Calvas P, Cif L, Damier P, Destee A, Faivre L, Guyant-Marechal L, Janik P, Janoura S, Kreisler A, Lusakowska A, Odent S, Potulska-Chromik A, Rudzińska M, Thobois S, Vuillaume I, Tranchant C, Tuffery-Giraud S, Coubes P, Sablonnière B, Claustres M, Collod-Béroud G. Blanchard A, et al. Mov Disord. 2011 Aug 1;26(9):1775-7. doi: 10.1002/mds.23641. Epub 2011 Apr 25. Mov Disord. 2011. PMID: 21520283 No abstract available.
753 results