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Year Number of Results
1988 1
1989 2
1990 2
1991 5
1992 1
1993 3
1994 1
1995 1
1996 7
1997 1
1998 6
1999 3
2000 8
2001 7
2002 1
2003 6
2004 3
2005 6
2006 6
2007 8
2008 6
2009 5
2010 10
2011 7
2012 6
2013 5
2014 6
2015 11
2016 5
2017 3
2018 6
2019 5
2020 3
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2022 5
2023 5
2024 6
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159 results

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Page 1
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Perrin S, Protic S, Bretegnier V, Laurendeau I, de Lageneste OD, Panara N, Ruckebusch O, Luka M, Masson C, Maillard T, Coulpier F, Pannier S, Wicart P, Hadj-Rabia S, Radomska KJ, Zarhrate M, Ménager M, Vidaud D, Topilko P, Parfait B, Colnot C. Perrin S, et al. Among authors: vidaud d. Sci Transl Med. 2024 Jun 26;16(753):eadj1597. doi: 10.1126/scitranslmed.adj1597. Epub 2024 Jun 26. Sci Transl Med. 2024. PMID: 38924432 Free PMC article.
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B; NF-France network; Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: vidaud d. J Med Genet. 2025 Aug 28:jmg-2025-110783. doi: 10.1136/jmg-2025-110783. Online ahead of print. J Med Genet. 2025. PMID: 40759488 Free article.
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: vidaud d. 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.
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: vidaud d. 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.
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.
Bessis D, Vidaud D, Meyer P, Pacot L, G V, Bonnard AA, Capri Y, Coubes C, Herman F, Lacombe D, Molinari N, Poujade L, Roubertie A, Van Gils J, Verloes A, Geneviève D, Cavé H, Willems M. Bessis D, et al. Among authors: vidaud d. Orphanet J Rare Dis. 2025 Apr 27;20(1):201. doi: 10.1186/s13023-025-03706-3. Orphanet J Rare Dis. 2025. PMID: 40289159 Free PMC article. Review.
Breast cancer risk in NF1-deleted patients.
Pacot L, Masliah-Planchon J, Petcu A, Terris B, Gauthier Villars M, Lespinasse J, Wolkenstein P, Vincent-Salomon A, Vidaud D, Pasmant E. Pacot L, et al. Among authors: vidaud d. J Med Genet. 2024 Apr 19;61(5):428-429. doi: 10.1136/jmg-2023-109682. J Med Genet. 2024. PMID: 38154814 No abstract available.
159 results