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Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F. Brockington M, et al. Among authors: fallet s. Hum Mol Genet. 2001 Dec 1;10(25):2851-9. doi: 10.1093/hmg/10.25.2851. Hum Mol Genet. 2001. PMID: 11741828
Prenatal detection of monosomy 21 mosaicism.
Ghidini A, Fallet S, Robinowitz J, Lockwood CJ, Dische R, Willner J. Ghidini A, et al. Among authors: fallet s. Prenat Diagn. 1993 Mar;13(3):163-9. doi: 10.1002/pd.1970130303. Prenat Diagn. 1993. PMID: 8506217 Review.
A two-hit model for developmental defects in Gorlin syndrome.
Levanat S, Gorlin RJ, Fallet S, Johnson DR, Fantasia JE, Bale AE. Levanat S, et al. Among authors: fallet s. Nat Genet. 1996 Jan;12(1):85-7. doi: 10.1038/ng0196-85. Nat Genet. 1996. PMID: 8528259 No abstract available.
27 results