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Congenital muscular dystrophy with merosin deficiency.
Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. Tomé FM, et al. Among authors: estournet b. C R Acad Sci III. 1994 Apr;317(4):351-7. C R Acad Sci III. 1994. PMID: 8000914
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K. Guicheney P, et al. Among authors: estournet b. J Med Genet. 1998 Mar;35(3):211-7. doi: 10.1136/jmg.35.3.211. J Med Genet. 1998. PMID: 9541105 Free PMC article.
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tomé FM, Guicheney P. Moghadaszadeh B, et al. Among authors: estournet b. Neuromuscul Disord. 1999 Oct;9(6-7):376-82. doi: 10.1016/s0960-8966(99)00051-6. Neuromuscul Disord. 1999. PMID: 10545040
Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.
Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. Ferreiro A, et al. Among authors: estournet b. Ann Neurol. 2000 Nov;48(5):745-57. Ann Neurol. 2000. PMID: 11079538
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Brockington M, et al. Among authors: estournet b. Am J Hum Genet. 2001 Dec;69(6):1198-209. doi: 10.1086/324412. Epub 2001 Oct 8. Am J Hum Genet. 2001. PMID: 11592034 Free PMC article.
78 results