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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.
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.
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Gruber A, Pacault M, El Khattabi LA, Vaucouleur N, Orhant L, Bienvenu T, Girodon E, Vidaud D, Leturcq F, Costa C, Letourneur F, Anselem O, Tsatsaris V, Goffinet F, Viot G, Vidaud M, Nectoux J.
Gruber A, et al. Among authors: vaucouleur n.
Clin Chem Lab Med. 2018 Apr 25;56(5):728-738. doi: 10.1515/cclm-2017-0689.
Clin Chem Lab Med. 2018.
PMID: 29613853
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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.
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: vaucouleur n.
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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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: vaucouleur n.
J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1367-e1373. doi: 10.1210/clinem/dgab894.
J Clin Endocrinol Metab. 2022.
PMID: 34897474
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Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
Pacault M, Verebi C, Lopez M, Vaucouleur N, Orhant L, Deburgrave N, Leturcq F, Vidaud D, Girodon E, Bienvenu T, Nectoux J.
Pacault M, et al. Among authors: vaucouleur n.
BJOG. 2022 Oct;129(11):1879-1886. doi: 10.1111/1471-0528.17201. Epub 2022 May 20.
BJOG. 2022.
PMID: 35486001
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How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
Verebi C, Caumes R, Chantot-Bastaraud S, Deburgrave N, Orhant L, Vaucouleur N, Cuisset L, Bienvenu T, Leturcq F, Nectoux J.
Verebi C, et al. Among authors: vaucouleur n.
Neuromuscul Disord. 2023 May;33(5):367-370. doi: 10.1016/j.nmd.2023.03.004. Epub 2023 Mar 15.
Neuromuscul Disord. 2023.
PMID: 36996638
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