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Facioscapulohumeral muscular dystrophy.
van der Maarel SM, Frants RR, Padberg GW. van der Maarel SM, et al. Biochim Biophys Acta. 2007 Feb;1772(2):186-94. doi: 10.1016/j.bbadis.2006.05.009. Epub 2006 Jun 6. Biochim Biophys Acta. 2007. PMID: 16837171 Free article. Review.
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.
Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR. Lemmers RJ, et al. Among authors: van der maarel sm, van der wielen mj, van deutekom jc. Hum Mol Genet. 1998 Aug;7(8):1207-14. doi: 10.1093/hmg/7.8.1207. Hum Mol Genet. 1998. PMID: 9668160
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR. van der Maarel SM, et al. Among authors: van overveld pg, van der wielen m, van ommen gj. Am J Hum Genet. 2000 Jan;66(1):26-35. doi: 10.1086/302730. Am J Hum Genet. 2000. PMID: 10631134 Free PMC article.
Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.
Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS. Leegwater PA, et al. Among authors: van der steen j, van der maarel sm, van der knaap ms. Am J Hum Genet. 2001 Apr;68(4):831-8. doi: 10.1086/319519. Epub 2001 Mar 6. Am J Hum Genet. 2001. PMID: 11254442 Free PMC article.
263 results