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Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency.
Guerrini-Rousseau L, Pasmant E, Muleris M, Abbou S, Adam-De-Beaumais T, Brugieres L, Cabaret O, Colas C, Cotteret S, Decq P, Dufour C, Guillerm E, Rouleau E, Varlet P, Zili S, Vidaud D, Grill J. Guerrini-Rousseau L, et al. Among authors: pasmant e. J Med Genet. 2024 Jan 19;61(2):158-162. doi: 10.1136/jmg-2023-109235. J Med Genet. 2024. PMID: 37775264 Free PMC article.
Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesis.
Wassef M, Rodilla V, Teissandier A, Zeitouni B, Gruel N, Sadacca B, Irondelle M, Charruel M, Ducos B, Michaud A, Caron M, Marangoni E, Chavrier P, Le Tourneau C, Kamal M, Pasmant E, Vidaud M, Servant N, Reyal F, Meseure D, Vincent-Salomon A, Fre S, Margueron R. Wassef M, et al. Among authors: pasmant e. Genes Dev. 2015 Dec 15;29(24):2547-62. doi: 10.1101/gad.269522.115. Epub 2015 Dec 4. Genes Dev. 2015. PMID: 26637281 Free PMC article.
Chaperoning 5S RNA assembly.
Madru C, Lebaron S, Blaud M, Delbos L, Pipoli J, Pasmant E, Réty S, Leulliot N. Madru C, et al. Among authors: pasmant e. Genes Dev. 2015 Jul 1;29(13):1432-46. doi: 10.1101/gad.260349.115. Genes Dev. 2015. PMID: 26159998 Free PMC article.
Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study.
Thevenon J, Bourredjem A, Faivre L, Cardot-Bauters C, Calender A, Le Bras M, Giraud S, Niccoli P, Odou MF, Borson-Chazot F, Barlier A, Lombard-Bohas C, Clauser E, Tabarin A, Pasmant E, Chabre O, Castermans E, Ruszniewski P, Bertherat J, Delemer B, Christin-Maitre S, Beckers A, Guilhem I, Rohmer V, Goichot B, Caron P, Baudin E, Chanson P, Groussin L, Du Boullay H, Weryha G, Lecomte P, Schillo F, Bihan H, Archambeaud F, Kerlan V, Bourcigaux N, Kuhn JM, Vergès B, Rodier M, Renard M, Sadoul JL, Binquet C, Goudet P. Thevenon J, et al. Among authors: pasmant e. Eur J Endocrinol. 2015 Dec;173(6):819-26. doi: 10.1530/EJE-15-0691. Epub 2015 Sep 21. Eur J Endocrinol. 2015. PMID: 26392472
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.
Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H. Zickler AM, et al. Among authors: pasmant e. Hum Mutat. 2012 Feb;33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9. Hum Mutat. 2012. PMID: 22045503
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. Among authors: pasmant e. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC article.
110 results