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audrey courtier
(6 results)?
One NF1 Mutation may Conceal Another.
Genes (Basel). 2019 Aug 22;10(9):633. doi: 10.3390/genes10090633.
Genes (Basel). 2019.
PMID: 31443423
Free PMC article.
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.
Pacot L, Pelletier V, Chansavang A, Briand-Suleau A, Burin des Roziers C, Coustier A, Maillard T, Vaucouleur N, Orhant L, Barbance C, Lermine A, Hamzaoui N, Hadjadj D, Laurendeau I, El Khattabi L, Nectoux J, Vidaud M, Parfait B, Dollfus H, Pasmant E, Vidaud D.
Pacot L, et al. Among authors: coustier a.
Hum Genet. 2023 Jan;142(1):1-9. doi: 10.1007/s00439-022-02476-3. Epub 2022 Aug 9.
Hum Genet. 2023.
PMID: 35941319
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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: coustier a.
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: coustier a.
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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Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.
El Khattabi LA, Rouillac-Le Sciellour C, Le Tessier D, Luscan A, Coustier A, Porcher R, Bhouri R, Nectoux J, Sérazin V, Quibel T, Mandelbrot L, Tsatsaris V, Vialard F, Dupont JM.
El Khattabi LA, et al. Among authors: coustier a.
PLoS One. 2016 May 11;11(5):e0155009. doi: 10.1371/journal.pone.0155009. eCollection 2016.
PLoS One. 2016.
PMID: 27167625
Free PMC article.
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