Coats syndrome in facioscapulohumeral dystrophy type 1: Frequency and D4Z4 contraction size

par Statland, Jeffrey M., Sacconi, Sabrina, Farmakidis, Constantine, Donlin-Smith, Colleen M., Chung, Mina, Tawil, Rabi
Publié 2013

Restrictive Lung Involvement in Facioscapulohumeral Muscular Dystrophy

par Scully, Michele A, Eichinger, Katy J, Donlin-Smith, Colleen M, Tawil, Rabi, Statland, Jeffery M
Publié 2014

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy

par Statland, Jeffrey, Donlin-Smith, Colleen M, Tapscott, Stephen J, van der Maarel, Silvere, Tawil, Rabi
Publié dans J Neuromuscul Dis (2014)

Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

par Statland, Jeffrey M., Donlin-Smith, Colleen M., Tapscott, Stephen J., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Tawil, Rabi
Publié dans Neurology (2015)

Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: Consequences for 18p deletion syndrome

par Lemmers, Richard J.L.F., van den Boogaard, Marlinde L., van der Vliet, Patrick J., Donlin-Smith, Colleen M., Nations, Sharon P., Ruivenkamp, Claudia A.L., Heard, Patricia, Bakker, Bert, Tapscott, Stephen, Cody, Jannine D., Tawil, Rabi, van der Maarel, Silvère M.
Publié dans Hum Mutat (2015)

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

par Balog, Judit, Goossens, Remko, Lemmers, Richard J.L.F, Straasheijm, Kirsten R., van der Vliet, Patrick J., van den Heuvel, Anita, Cambieri, Chiara, Capet, Nicolas, Feasson, Léonard, Manel, Veronique, Contet, Julian, Kriek, Marjolein, Donlin-Smith, Colleen M., Ruivenkamp, Claudia A. L., Heard, Patricia, Tapscott, Stephen J., Cody, Jannine D., Tawil, Rabi, Sacconi, Sabrina, van der Maarel, Silvère M.
Publié dans J Med Genet (2018)

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

par Lemmers, Richard J.L.F., Tawil, Rabi, Petek, Lisa M., Balog, Judit, Block, Gregory J., Santen, Gijs W.E., Amell, Amanda M., van der Vliet, Patrick J., Almomani, Rowida, Straasheijm, Kirsten R., Krom, Yvonne D., Klooster, Rinse, Sun, Yu, den Dunnen, Johan T., Helmer, Quinta, Donlin-Smith, Colleen M., Padberg, George W., van Engelen, Baziel G.M., de Greef, Jessica C., Aartsma-Rus, Annemieke M., Frants, Rune R., de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N., Bakker, Bert, Bamshad, Michael J., Tapscott, Stephen J., Miller, Daniel G., van der Maarel, Silvère M.
Publié 2012