Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11.
Blood. 2018.
PMID: 29891534
Free article.
Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma.
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP.
Buffet A, et al. Among authors: lenglet m.
J Med Genet. 2020 Nov;57(11):752-759. doi: 10.1136/jmedgenet-2019-106519. Epub 2020 Jan 29.
J Med Genet. 2020.
PMID: 31996412
Free PMC article.
Item in Clipboard
Mutation of the proline P81 into a serine modifies the tumour suppressor function of the von Hippel-Lindau gene in the ccRCC.
Chesnel F, Jullion E, Delalande O, Couturier A, Alusse A, Le Goff X, Lenglet M, Gardie B, Abadie C, Arlot-Bonnemains Y.
Chesnel F, et al. Among authors: lenglet m.
Br J Cancer. 2022 Nov;127(11):1954-1962. doi: 10.1038/s41416-022-01985-2. Epub 2022 Sep 29.
Br J Cancer. 2022.
PMID: 36175619
Free PMC article.
Item in Clipboard
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B.
Besnard T, et al. Among authors: lenglet m.
Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6.
Genet Med. 2019.
PMID: 30723320
Free article.
Item in Clipboard
[Extension of the thoracodorsal artery perforator flap's pedicle: Anatomical study].
Lenglet M, Dast S, Dessena L, Herlin C, Chaput B, Havet E, Sinna R.
Lenglet M, et al.
Ann Chir Plast Esthet. 2017 Aug;62(4):327-331. doi: 10.1016/j.anplas.2017.01.001. Epub 2017 Mar 28.
Ann Chir Plast Esthet. 2017.
PMID: 28363665
French.
Item in Clipboard
Cite
Cite