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Association between Kniest dysplasia and chondrosarcoma in a child.
Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P. Hochart A, et al. Among authors: escande f. Am J Med Genet A. 2015 Dec;167A(12):3204-8. doi: 10.1002/ajmg.a.37361. Epub 2015 Sep 8. Am J Med Genet A. 2015. PMID: 26345137
Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.
Hochart A, Escande F, Rocourt N, Grill J, Koubi-Pick V, Beaujot J, Meignan S, Vinchon M, Maurage CA, Leblond P. Hochart A, et al. Among authors: escande f. Ann Clin Transl Neurol. 2015 Apr;2(4):439-43. doi: 10.1002/acn3.184. Epub 2015 Mar 3. Ann Clin Transl Neurol. 2015. PMID: 25909089 Free PMC article.
Identification of prognostic markers in diffuse midline gliomas H3K27M-mutant.
Dufour C, Perbet R, Leblond P, Vasseur R, Stechly L, Pierache A, Reyns N, Touzet G, Le Rhun E, Vinchon M, Maurage CA, Escande F, Renaud F. Dufour C, et al. Among authors: escande f. Brain Pathol. 2020 Jan;30(1):179-190. doi: 10.1111/bpa.12768. Epub 2019 Aug 14. Brain Pathol. 2020. PMID: 31348837 Free PMC article.
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S. Ghoumid J, et al. Among authors: escande f. Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16. Genet Med. 2017. PMID: 28301459 Free article.
Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Vanlerberghe C, Jourdain AS, Dieux A, Toutain A, Callewaert B, Dupuis-Girod S, Unger S, Wright M, Isidor B, Ghoumid J, Petit F, Boutry N, Escande F, Manouvrier-Hanu S. Vanlerberghe C, et al. Among authors: escande f. Clin Genet. 2017 Dec;92(6):676-678. doi: 10.1111/cge.13103. Clin Genet. 2017. PMID: 29120062 No abstract available.
Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.
Holder-Espinasse M, Escande F, Mayrargue E, Dieux-Coeslier A, Fron D, Doual-Bisser A, Boute-Benejean O, Robert Y, Porchet N, Manouvrier-Hanu S. Holder-Espinasse M, et al. Among authors: escande f. J Med Genet. 2004 Jun;41(6):e78. doi: 10.1136/jmg.2003.013904. J Med Genet. 2004. PMID: 15173244 Free PMC article. No abstract available.
111 results