Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2012 1
2021 2
2022 2
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
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
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
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
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: barbance c. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963. Cancers (Basel). 2021. PMID: 34199217 Free PMC article.
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.