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Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Hum Genet. 2023 Jan;142(1):1-9. doi: 10.1007/s00439-022-02476-3. Epub 2022 Aug 9.
Hum Genet. 2023.
PMID: 35941319
Severe Phenotype in Patients with Large Deletions of NF1.
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E.
Pacot L, et al. Among authors: maillard t.
Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963.
Cancers (Basel). 2021.
PMID: 34199217
Free PMC article.
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Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
Pacot L, Ye M, Nectoux J, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Orhant L, Vaucouleur N, Blanché H, Parfait B, Wolkenstein P, Vidaud M; EURONET-NF; Vidaud D, Pasmant E.
Pacot L, et al. Among authors: maillard t.
J Mol Diagn. 2024 Feb;26(2):150-157. doi: 10.1016/j.jmoldx.2023.11.005. Epub 2023 Nov 25.
J Mol Diagn. 2024.
PMID: 38008284
Free article.
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Higher specificity of nucleic acid sequence-based amplification isothermal technology than of real-time PCR for quantification of HIV-1 RNA on dried blood spots.
Mercier-Delarue S, Vray M, Plantier JC, Maillard T, Adjout Z, de Olivera F, Schnepf N, Maylin S, Simon F, Delaugerre C.
Mercier-Delarue S, et al. Among authors: maillard t.
J Clin Microbiol. 2014 Jan;52(1):52-6. doi: 10.1128/JCM.01848-13. Epub 2013 Oct 16.
J Clin Microbiol. 2014.
PMID: 24131691
Free PMC article.
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