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AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Leclerc J, Beaumont M, Vibert R, Pinson S, Vermaut C, Flament C, Lovecchio T, Delattre L, Demay C, Coulet F, Guillerm E, Hamzaoui N, Benusiglio PR, Brahimi A, Cornelis F, Delhomelle H, Fert-Ferrer S, Fournier BPJ, Hovnanian A, Legrand C, Lortholary A, Malka D, Petit F, Saurin JC, Lejeune S, Colas C, Buisine MP. Leclerc J, et al. Among authors: pinson s. Genes Chromosomes Cancer. 2023 Apr;62(4):210-222. doi: 10.1002/gcc.23112. Epub 2022 Dec 21. Genes Chromosomes Cancer. 2023. PMID: 36502525 Free PMC article.
At-risk phenotype of neurofibromatose-1 patients: a multicentre case-control study.
Sbidian E, Bastuji-Garin S, Valeyrie-Allanore L, Ferkal S, Lefaucheur JP, Drouet A, Brugière P, Vialette C, Combemale P, Barbarot S, Wolkenstein P; NF France Network. Sbidian E, et al. Orphanet J Rare Dis. 2011 Jul 13;6:51. doi: 10.1186/1750-1172-6-51. Orphanet J Rare Dis. 2011. PMID: 21752287 Free PMC article.
Does the RET variant G691S influence the features of sporadic medullary thyroid carcinoma?
Cardot-Bauters C, Leteurtre E, Leclerc L, Vantyghem MC, Do Cao C, Wemeau JL, d'Herbomez M, Carnaille B, Barbu V, Pinson S, Pigny P; Groupe d'Etude des Tumeurs Endocrines (GTE). Cardot-Bauters C, et al. Among authors: pinson s. Clin Endocrinol (Oxf). 2008 Sep;69(3):506-10. doi: 10.1111/j.1365-2265.2008.03230.x. Epub 2008 Mar 10. Clin Endocrinol (Oxf). 2008. PMID: 18331611
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.
Lion-François L, Gueyffier F, Mercier C, Gérard D, Herbillon V, Kemlin I, Rodriguez D, Ginhoux T, Peyric E, Coutinho V, Bréant V, des Portes V, Pinson S, Combemale P, Kassaï B; Réseau NF1 Rhône Alpes Auvergne-France. Lion-François L, et al. Among authors: pinson s. Orphanet J Rare Dis. 2014 Sep 10;9:142. doi: 10.1186/s13023-014-0142-4. Orphanet J Rare Dis. 2014. PMID: 25205361 Free PMC article. Clinical Trial.
Neurofibromatosis 1-associated neuropathies: a reappraisal.
Drouet A, Wolkenstein P, Lefaucheur JP, Pinson S, Combemale P, Gherardi RK, Brugières P, Salama J, Ehre P, Decq P, Créange A. Drouet A, et al. Among authors: pinson s. Brain. 2004 Sep;127(Pt 9):1993-2009. doi: 10.1093/brain/awh234. Epub 2004 Aug 2. Brain. 2004. PMID: 15289270
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; members of the NF France Network. Sabbagh A, et al. Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5. Hum Mol Genet. 2009. PMID: 19417008 Free PMC article.
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