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Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963.
Cancers (Basel). 2021.
PMID: 34199217
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: barbance c.
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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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: barbance c.
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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Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
Riant F, Roos C, Roubertie A, Barbance C, Hadjadj J, Auvin S, Baille G, Beltramone M, Boulanger C, Cahn A, Cata F, Cheuret E, Cuvellier JC, Defo A, Demarquay G, Donnet A, Gaillard N, Massardier E, Guy N, Lamoureux S, Le Moigno L, Lucas C, Ratiu D, Redon S, Rey C, Thauvin C, Viallet F, Tournier-Lasserve E, Ducros A.
Riant F, et al. Among authors: barbance c.
Neurology. 2022 Jan 4;98(1):e51-e61. doi: 10.1212/WNL.0000000000012947. Epub 2021 Oct 14.
Neurology. 2022.
PMID: 34649875
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De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.
Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier-Lasserve E.
Riant F, et al. Among authors: barbance c.
Neurology. 2010 Sep 14;75(11):967-72. doi: 10.1212/WNL.0b013e3181f25e8f.
Neurology. 2010.
PMID: 20837964
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PRRT2 mutations cause hemiplegic migraine.
Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E.
Riant F, et al. Among authors: barbance c.
Neurology. 2012 Nov 20;79(21):2122-4. doi: 10.1212/WNL.0b013e3182752cb8. Epub 2012 Oct 17.
Neurology. 2012.
PMID: 23077016
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