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26. Analyzing Copy Number Variation Using Pulsed-Field Gel Electrophoresis: Providing a Genetic Diagnosis for FSHD1. Lemmers RJ. Methods Mol Biol; 2017; 1492():107-125. PubMed ID: 27822859 [Abstract] [Full Text] [Related]
27. High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q. Bengtsson U, Altherr MR, Wasmuth JJ, Winokur ST. Hum Mol Genet; 1994 Oct; 3(10):1801-5. PubMed ID: 7849703 [Abstract] [Full Text] [Related]
28. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. van Deutekom JC, Bakker E, Lemmers RJ, van der Wielen MJ, Bik E, Hofker MH, Padberg GW, Frants RR. Hum Mol Genet; 1996 Dec; 5(12):1997-2003. PubMed ID: 8968754 [Abstract] [Full Text] [Related]
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34. Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy. Tonini MM, Lemmers RJ, Pavanello RC, Cerqueira AM, Frants RR, van der Maarel SM, Zatz M. Hum Genet; 2006 Mar 15; 119(1-2):23-8. PubMed ID: 16341710 [Abstract] [Full Text] [Related]
35. Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease? Stout K, van der Maarel S, Frants RR, Padberg GW, Ropers HH, Haaf T. Chromosome Res; 1999 Mar 15; 7(5):323-9. PubMed ID: 10515207 [Abstract] [Full Text] [Related]
37. Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy. Mitsuhashi S, Nakagawa S, Takahashi Ueda M, Imanishi T, Frith MC, Mitsuhashi H. Sci Rep; 2017 Nov 01; 7(1):14789. PubMed ID: 29093467 [Abstract] [Full Text] [Related]
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39. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Nat Genet; 2003 Dec 01; 35(4):315-7. PubMed ID: 14634647 [Abstract] [Full Text] [Related]
40. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. Ann Neurol; 2005 Oct 01; 58(4):569-76. PubMed ID: 16178028 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]