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Page 1
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.
Marty C, Saint-Martin C, Pecquet C, Grosjean S, Saliba J, Mouton C, Leroy E, Harutyunyan AS, Abgrall JF, Favier R, Toussaint A, Solary E, Kralovics R, Constantinescu SN, Najman A, Vainchenker W, Plo I, Bellanné-Chantelot C. Marty C, et al. Among authors: toussaint a. Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7. Blood. 2014. PMID: 24398328 Free article.
PINK1 and FLNA mutations association: A role for atypical parkinsonism?
Degos B, Toussaint A, Lesage S, Brice A, Vidailhet M, Beldjord C, Catala M. Degos B, et al. Among authors: toussaint a. Parkinsonism Relat Disord. 2016 May;26:78-80. doi: 10.1016/j.parkreldis.2016.02.023. Epub 2016 Mar 2. Parkinsonism Relat Disord. 2016. PMID: 26969111 No abstract available.
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Vasson A, Leroux C, Orhant L, Boimard M, Toussaint A, Leroy C, Commere V, Ghiotti T, Deburgrave N, Saillour Y, Atlan I, Fouveaut C, Beldjord C, Valleix S, Leturcq F, Dodé C, Bienvenu T, Chelly J, Cossée M. Vasson A, et al. Among authors: toussaint a. Eur J Hum Genet. 2013 Sep;21(9):977-87. doi: 10.1038/ejhg.2012.279. Epub 2013 Jan 23. Eur J Hum Genet. 2013. PMID: 23340513 Free PMC article.
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N. Fallet-Bianco C, et al. Among authors: toussaint a. Acta Neuropathol Commun. 2014 Jul 25;2:69. doi: 10.1186/2051-5960-2-69. Acta Neuropathol Commun. 2014. PMID: 25059107 Free PMC article.
X-chromosome inactivation in female patients with Fabry disease.
Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP. Echevarria L, et al. Among authors: toussaint a. Clin Genet. 2016 Jan;89(1):44-54. doi: 10.1111/cge.12613. Epub 2015 Jun 22. Clin Genet. 2016. PMID: 25974833
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Bahi-Buisson N, Souville I, Fourniol FJ, Toussaint A, Moores CA, Houdusse A, Lemaitre JY, Poirier K, Khalaf-Nazzal R, Hully M, Leger PL, Elie C, Boddaert N, Beldjord C, Chelly J, Francis F; SBH-LIS European Consortium. Bahi-Buisson N, et al. Among authors: toussaint a. Brain. 2013 Jan;136(Pt 1):223-44. doi: 10.1093/brain/aws323. Brain. 2013. PMID: 23365099 Free PMC article.
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
Ramos-Brossier M, Montani C, Lebrun N, Gritti L, Martin C, Seminatore-Nole C, Toussaint A, Moreno S, Poirier K, Dorseuil O, Chelly J, Hackett A, Gecz J, Bieth E, Faudet A, Heron D, Frank Kooy R, Loeys B, Humeau Y, Sala C, Billuart P. Ramos-Brossier M, et al. Among authors: toussaint a. Hum Mol Genet. 2015 Feb 15;24(4):1106-18. doi: 10.1093/hmg/ddu523. Epub 2014 Oct 9. Hum Mol Genet. 2015. PMID: 25305082 Free PMC article.
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I. Mercier S, et al. Among authors: toussaint a. Eur J Hum Genet. 2013 Aug;21(8):855-63. doi: 10.1038/ejhg.2012.269. Epub 2013 Jan 9. Eur J Hum Genet. 2013. PMID: 23299919 Free PMC article.
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
Huby T, Le Guillou E, Burin des Roziers C, Pacot L, Briand-Suleau A, Chansavang A, Toussaint A, Duchossoy V, Vaucouleur N, Benoit V, Lodé L, Molac C, North MO, Grotto S, Tsatsaris V, Jouinot A, Cochand-Priollet B, Paepegaey AC, Nectoux J, Groussin L, Pasmant E. Huby T, et al. Among authors: toussaint a. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1367-e1373. doi: 10.1210/clinem/dgab894. J Clin Endocrinol Metab. 2022. PMID: 34897474
282 results