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Page 1
Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.
Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network. Lesca G, et al. Among authors: pinson s. Hum Mutat. 2006 Jun;27(6):598. doi: 10.1002/humu.9421. Hum Mutat. 2006. PMID: 16705692
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D. Lebeault M, et al. Among authors: pinson s. Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3. Thyroid. 2017. PMID: 28946813
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A, Rollat Farnier PA, Buisson A, Pinson S, Bentaher A, Lebecque S, Corvol H, Abou Taam R, Houdouin V, Bardel C, Roy P, Devouassoux G, Cottin V, Seve P, Bernaudin JF, Lim CX, Weichhart T, Valeyre D, Pacheco Y, Clement A, Nathan N; in the frame of GSF (Groupe Sarcoïdose France). Calender A, et al. Among authors: pinson s. BMC Med Genomics. 2018 Mar 6;11(1):23. doi: 10.1186/s12920-018-0338-x. BMC Med Genomics. 2018. PMID: 29510755 Free PMC article.
Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis.
Calender A, Lim CX, Weichhart T, Buisson A, Besnard V, Rollat-Farnier PA, Bardel C, Roy P, Cottin V, Devouassoux G, Finat A, Pinson S, Lebecque S, Nunes H, Israel-Biet D, Bentaher A, Valeyre D, Pacheco Y; in the frame of GSF (Group Sarcoidosis France). Calender A, et al. Among authors: pinson s. Eur Respir J. 2019 Aug 1;54(2):1900430. doi: 10.1183/13993003.00430-2019. Print 2019 Aug. Eur Respir J. 2019. PMID: 31023854 Free article. No abstract available.
[Neurofibromatosis 1: recommendations for management].
Pinson S, Créange A, Barbarot S, Stalder JF, Chaix Y, Rodriguez D, Sanson M, Bernheim A, d'Incan M, Doz F, Stoll C, Combemale P, Kalifa C, Zeller J, Teillac-Hamel D, Lyonnet S, Zerah M, Lacour JP, Guillot B, Wolkenstein P. Pinson S, et al. Arch Pediatr. 2002 Jan;9(1):49-60. doi: 10.1016/s0929-693x(01)00695-9. Arch Pediatr. 2002. PMID: 11865551 Review. French.
Genomic variations integrated database for MUTYH-associated adenomatous polyposis.
Grandval P, Fabre AJ, Gaildrat P, Baert-Desurmont S, Blayau M, Buisine MP, Coulet F, Maugard C, Pinson S, Remenieras A, Rouleau E, Uhrhammer N, Beroud C, Olschwang S. Grandval P, et al. Among authors: pinson s. J Med Genet. 2015 Jan;52(1):25-7. doi: 10.1136/jmedgenet-2014-102752. Epub 2014 Nov 3. J Med Genet. 2015. PMID: 25368107 No abstract available.
NF1 single and multi-exons copy number variations in neurofibromatosis type 1.
Imbard A, Pasmant E, Sabbagh A, Luscan A, Soares M, Goussard P, Blanché H, Laurendeau I, Ferkal S, Vidaud M, Pinson S, Bellanne-Chantelot C, Vidaud D, Wolkenstein P; members of the NF France Network; Parfait B. Imbard A, et al. Among authors: pinson s. J Hum Genet. 2015 Apr;60(4):221-4. doi: 10.1038/jhg.2015.6. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631097
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. Boulouard F, et al. Among authors: pinson s. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. Clin Genet. 2021. PMID: 33454955
95 results