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Page 1
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.
Pacot L, Vidaud D, Ye M, Chansavang A, Coustier A, Maillard T, Barbance C, Laurendeau I, Hébrard B, Lunati-Rozie A, Funalot B, Wolkenstein P, Vidaud M, Goldenberg A, Morice-Picard F, Hadjadj D, Parfait B, Pasmant E. Pacot L, et al. Among authors: chansavang a. NPJ Genom Med. 2024 Sep 8;9(1):41. doi: 10.1038/s41525-024-00425-9. NPJ Genom Med. 2024. PMID: 39245665 Free PMC article.
Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups.
Violon F, Bouys L, Vaduva P, Chansavang A, Vaquier L, Letourneur F, Izac B, Giannone G, De Murat D, Gaillard M, Berthon A, Ragazzon B, Pasmant E, Sibony M, Bertherat J. Violon F, et al. Among authors: chansavang a. Endocr Pathol. 2024 Sep;35(3):194-206. doi: 10.1007/s12022-024-09824-1. Epub 2024 Aug 24. Endocr Pathol. 2024. PMID: 39180662
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees.
Schwartz M, Ibadioune S, Chansavang A, Vacher S, Caputo SM, Delhomelle H, Wong J, Abidallah K, Moncoutier V, Becette V, Popova T, Suybeng V, De Pauw A, Stern MH, Colas C, Mouret-Fourme E, Stoppa-Lyonnet D, Golmard L, Bieche I, Masliah-Planchon J. Schwartz M, et al. Among authors: chansavang a. J Med Genet. 2024 Feb 21;61(3):284-288. doi: 10.1136/jmg-2023-109325. J Med Genet. 2024. PMID: 37748860
Lynch syndrome: influence of additional susceptibility variants on cancer risk.
Vibert R, Hasnaoui J, Perrier A, Lefebvre A, Colas C, Dhooge M, Basset N, Chansavang A, Desseignes C, Duval A, Farelly S, Hamzaoui N, Laurent-Puig P, Metras J, Moliere D, Muleris M, Netter J, Touat M, Bielle F, Labreche K, Nicolle R, Perkins G, Warcoin M, Coulet F, Benusiglio PR. Vibert R, et al. Among authors: chansavang a. Eur J Hum Genet. 2023 Sep;31(9):1078-1082. doi: 10.1038/s41431-023-01367-z. Epub 2023 Apr 24. Eur J Hum Genet. 2023. PMID: 37088804 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: chansavang 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
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: chansavang a. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1367-e1373. doi: 10.1210/clinem/dgab894. J Clin Endocrinol Metab. 2022. PMID: 34897474
13 results