Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

142 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Imaging and multi-omics datasets converge to define different neural progenitor origins for ATRT-SHH subgroups.
Lobón-Iglesias MJ, Andrianteranagna M, Han ZY, Chauvin C, Masliah-Planchon J, Manriquez V, Tauziede-Espariat A, Turczynski S, Bouarich-Bourimi R, Frah M, Dufour C, Blauwblomme T, Cardoen L, Pierron G, Maillot L, Guillemot D, Reynaud S, Bourneix C, Pouponnot C, Surdez D, Bohec M, Baulande S, Delattre O, Piaggio E, Ayrault O, Waterfall JJ, Servant N, Beccaria K, Dangouloff-Ros V, Bourdeaut F. Lobón-Iglesias MJ, et al. Nat Commun. 2023 Oct 20;14(1):6669. doi: 10.1038/s41467-023-42371-7. Nat Commun. 2023. PMID: 37863903 Free PMC article.
Biallelic inactivation of REV7 is associated with Fanconi anemia.
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, d'Enghien CD, Bluteau O, Cuccuini W, Gachet S, de Latour RP, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J. Bluteau D, et al. J Clin Invest. 2017 Mar 1;127(3):1117. doi: 10.1172/JCI92946. Epub 2017 Mar 1. J Clin Invest. 2017. PMID: 28248207 Free PMC article. No abstract available.
MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesis.
Masliah-Planchon J, Pasmant E, Luscan A, Laurendeau I, Ortonne N, Hivelin M, Varin J, Valeyrie-Allanore L, Dumaine V, Lantieri L, Leroy K, Parfait B, Wolkenstein P, Vidaud M, Vidaud D, Bièche I. Masliah-Planchon J, et al. BMC Genomics. 2013 Jul 13;14:473. doi: 10.1186/1471-2164-14-473. BMC Genomics. 2013. PMID: 23848554 Free PMC article.
[Review: delta-storage pool disease].
Masliah-Planchon J, Flaujac C, Tapon-Bretaudière J, Cramer-Bordé EM, Darnige L. Masliah-Planchon J, et al. Ann Biol Clin (Paris). 2008 Jul-Aug;66(4):365-9. doi: 10.1684/abc.2008.0245. Ann Biol Clin (Paris). 2008. PMID: 18725336 Free article. Review. French.
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Ayrignac X, et al. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. Brain. 2015. PMID: 25527826
The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.
Luscan A, Shackleford G, Masliah-Planchon J, Laurendeau I, Ortonne N, Varin J, Lallemand F, Leroy K, Dumaine V, Hivelin M, Borderie D, De Raedt T, Valeyrie-Allanore L, Larousserie F, Terris B, Lantieri L, Vidaud M, Vidaud D, Wolkenstein P, Parfait B, Bièche I, Massaad C, Pasmant E. Luscan A, et al. Clin Cancer Res. 2014 Jan 15;20(2):358-71. doi: 10.1158/1078-0432.CCR-13-0780. Epub 2013 Nov 11. Clin Cancer Res. 2014. PMID: 24218515
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, Schmitt C, Muller M, Domenech C, Blin N, Bruno B, Pellier I, Hunault M, Blanche S, Petit A, Leverger G, Michel G, Bertrand Y, Baruchel A, Socié G, Soulier J. Bluteau O, et al. Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16. Blood. 2018. PMID: 29146883 Free article.
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN. Pasmant E, et al. J Med Genet. 2009 Jul;46(7):425-30. doi: 10.1136/jmg.2008.065243. Epub 2009 Apr 14. J Med Genet. 2009. PMID: 19366998 Free article.
142 results