Center-Authored Papers

Filters: Author is Straasheijm, Kirsten R  [Clear All Filters]
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 
D
Lemmers RJLF, Tawil R, Petek LM, Balog J, Block GJ, Santen GWE, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR et al..  2012.  Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.. Nature genetics. 44(12):1370-4. Abstract
F
Sacconi S, Lemmers RJLF, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L et al..  2013.  The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.. American journal of human genetics. 93(4):744-51. Abstract
I
Balog J, Thijssen PE, Shadle S, Straasheijm KR, van der Vliet PJ, Krom YD, van den Boogaard ML, De Jong A, Lemmers RJLF, Tawil R et al..  2015.  Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.. Epigenetics. Abstract
M
van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M et al..  2016.  Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.. American journal of human genetics. 98(5):1020-9. Abstract
U
Lemmers RJLF, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW et al..  2010.  A unifying genetic model for facioscapulohumeral muscular dystrophy.. Science (New York, N.Y.). 329(5999):1650-3. Abstract