| 1 | FSHD2, FSHMD1A, SMCHD1
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| Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
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| Nguyen K, Broucqsault N, Chaix C, Roche S, Robin JD, Vovan C, Gerard L, Mégarbané A, Urtizberea JA, Bellance R, Barnérias C, David A, Eymard B, Fradin M, Manel V, Sacconi S, Tiffreau V, Zagnoli F, Cuisset JM, Salort-Campana E, Attarian S, Bernard R, Lévy N, Magdinier F.
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| J Med Genet Med Genet. 2019 Apr 22. pii: jmedgenet-2018-105949. doi: 10.1136/jmedgenet-2018-105949. [Epub ahead of print]
2019
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| 2 | DUX4, FSHD2, FSHMD1A, SMCHD1
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| A Pediatric Review of Facioscapulohumeral Muscular Dystrophy.
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| Mah JK, Chen YW.
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| J Pediatr Neurol 16(4):222-231. doi: 10.1055/s-0037-1604197.
2018
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| 3 | BAMS, FSHD2, SMCHD1
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| FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.
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| Gurzau AD, Chen K, Xue S, Dai W, Lucet IS, Ly TTN, Reversade B, Blewitt ME, Murphy JM.
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| J Biol Chem 293(25):9841-9853. doi: 10.1074/jbc.RA118.003104. Epub 2018 May 10.
2018
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| 4 | DUX4, FSHD2, FSHMD1A, SMCHD1
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| Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
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| Lemmers RJLF, van der Vliet PJ, Vreijling JP, Henderson D, van der Stoep N, Voermans N, van Engelen B, Baas F, Sacconi S, Tawil R, van der Maarel SM.
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| Hum Mol Genet 27(20):3488-3497. doi: 10.1093/hmg/ddy236.
2018
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| 5 | BAMS, FSHD2, SMCHD1
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| De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
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| Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
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| Nat Genet 49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9.
2017
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| 6 | DNMT3B, FSHD2, FSHMD1A, SMCHD1
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| Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
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| van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, Kriek M, Laurense-Bik ME, Raz V, van Ostaijen-Ten Dam MM, Hansson KB, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJ, Nishino I, Tawil R, Tapscott SJ, van Engelen BG, van der Maarel SM.
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| Am J Hum Genet 98(5):1020-9. doi: 10.1016/j.ajhg.2016.03.013.
2016
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| 7 | FSHD2, SMCHD1
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| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
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| Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
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| Nat Genet 44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.
2012
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| 8 | FSHD2, SMCHD1
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| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
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| Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
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| Nat Genet 44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.
2012
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