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Items: 17

1.

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model.

de Greef JC, Krom YD, den Hamer B, Snider L, Hiramuki Y, van den Akker RFP, Breslin K, Pakusch M, Salvatori DCF, Slütter B, Tawil R, Blewitt ME, Tapscott SJ, van der Maarel SM.

Hum Mol Genet. 2018 Feb 15;27(4):716-731. doi: 10.1093/hmg/ddx437.

2.

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H.

Nat Commun. 2016 Jun 22;7:12003. doi: 10.1038/ncomms12003. No abstract available.

3.

Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse.

de Greef JC, Hamlyn R, Jensen BS, O'Campo Landa R, Levy JR, Kobuke K, Campbell KP.

Hum Mol Genet. 2016 Apr 1;25(7):1357-69. doi: 10.1093/hmg/ddw018. Epub 2016 Jan 24.

4.

Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJ, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJ, Weemaes C, Francastel C, van der Maarel SM, Sasaki H.

Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870. Erratum in: Nat Commun. 2016 Jun 22;7:12003.

5.

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

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.

Nat Genet. 2012 Dec;44(12):1370-4. doi: 10.1038/ng.2454. Epub 2012 Nov 11.

6.

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

Balog J, Thijssen PE, de Greef JC, Shah B, van Engelen BG, Yokomori K, Tapscott SJ, Tawil R, van der Maarel SM.

Epigenetics. 2012 Jun 1;7(6):579-84. doi: 10.4161/epi.20001. Epub 2012 Jun 1.

7.

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C.

J Med Genet. 2012 Jan;49(1):41-6. doi: 10.1136/jmedgenet-2011-100101. Epub 2011 Oct 7.

8.

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM.

Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19.

9.

Clinical features of facioscapulohumeral muscular dystrophy 2.

de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R.

Neurology. 2010 Oct 26;75(17):1548-54. doi: 10.1212/WNL.0b013e3181f96175.

10.

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

Masny PS, Chan OY, de Greef JC, Bengtsson U, Ehrlich M, Tawil R, Lock LF, Hewitt JE, Stocksdale J, Martin JH, van der Maarel SM, Winokur ST.

Eur J Hum Genet. 2010 Apr;18(4):448-56. doi: 10.1038/ejhg.2009.183. Epub 2009 Nov 4.

11.

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM.

Hum Mutat. 2009 Oct;30(10):1449-59. doi: 10.1002/humu.21091.

PMID:
19728363
12.

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K.

PLoS Genet. 2009 Jul;5(7):e1000559. doi: 10.1371/journal.pgen.1000559. Epub 2009 Jul 10.

13.

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.

de Greef JC, Frants RR, van der Maarel SM.

Mutat Res. 2008 Dec 1;647(1-2):94-102. doi: 10.1016/j.mrfmmm.2008.07.011. Epub 2008 Aug 3. Review.

14.

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJ, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CM.

J Med Genet. 2008 Feb;45(2):93-9. Epub 2007 Sep 24.

PMID:
17893117
15.

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.

de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM.

Neurology. 2007 Sep 4;69(10):1018-26.

PMID:
17785671
16.

ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma.

Schuetz C, Barbi G, Barth TF, Hoenig M, Schulz A, Möeller P, Smeets D, de Greef JC, van der Maarel SM, Vogel W, Debatin KM, Friedrich W.

Am J Med Genet A. 2007 Sep 1;143A(17):2052-7.

PMID:
17702009
17.

No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy.

van der Kooi EL, de Greef JC, Wohlgemuth M, Frants RR, van Asseldonk RJ, Blom HJ, van Engelen BG, van der Maarel SM, Padberg GW.

Neuromuscul Disord. 2006 Nov;16(11):766-9. Epub 2006 Sep 26.

PMID:
17005397

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