Hybridization Analysis of D4Z4 Repeat Arrays Linked to FSHD

Por Ehrlich, Melanie, Jackson, Kesmic, Tsumagari, Koji, Camaño, Pilar, Lemmers, Richard J.F.L.
Publicado em 2006

Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

Por Reynolds, Ben C., Lemmers, Richard J. L. F., Tolmie, John, Howatson, Allan G., Hughes, David A.
Publicado em 2010

Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

Por Lemmers, Richard J. F. L., Wohlgemuth, Mariëlle, Frants, Rune R., Padberg, George W., Morava, Eva, van der Maarel, Silvère M.
Publicado em 2004

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

Por Yao, Zizhen, Snider, Lauren, Balog, Judit, Lemmers, Richard J.L.F., Van Der Maarel, Silvère M., Tawil, Rabi, Tapscott, Stephen J.
Publicado em 2014

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

Por Statland, Jeffrey M., Donlin-Smith, Colleen M., Tapscott, Stephen J., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Tawil, Rabi
Publicado no Neurology (2015)

Mechanism and Timing of Mitotic Rearrangements in the Subtelomeric D4Z4 Repeat Involved in Facioscapulohumeral Muscular Dystrophy

Por Lemmers, Richard J. L. F., van Overveld, Petra G. M., Sandkuijl, Lodewijk A., Vrieling, Harry, Padberg, George W., Frants, Rune R., van der Maarel, Silvère M.
Publicado em 2004

Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution

Por Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Gaag, Kristiaan J., Zuniga, Sofia, Frants, Rune R., de Knijff, Peter, van der Maarel, Silvère M.
Publicado em 2010

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

Por Sacconi, Sabrina, Camaño, Pilar, de Greef, Jessica C., Lemmers, Richard J. L. F., Salviati, Leonardo, Boileau, Pascal, de Munain Arregui, Adolfo Lopez, van der Maarel, Silvère M., Desnuelle, Claude
Publicado em 2011

A focal domain of extreme demethylation within D4Z4 in FSHD2

Por Hartweck, Lynn M., Anderson, Lindsey J., Lemmers, Richard J., Dandapat, Abhijit, Toso, Erik A., Dalton, Joline C., Tawil, Rabi, Day, John W., van der Maarel, Silvère M., Kyba, Michael
Publicado em 2013

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

Por Snider, Lauren, Geng, Linda N., Lemmers, Richard J. L. F., Kyba, Michael, Ware, Carol B., Nelson, Angelique M., Tawil, Rabi, Filippova, Galina N., van der Maarel, Silvère M., Tapscott, Stephen J., Miller, Daniel G.
Publicado em 2010

DNA polymorphism and epigenetic marks modulate the affinity of a scaffold/matrix attachment region to the nuclear matrix

Por Kisseljova, Natalia P, Dmitriev, Petr, Katargin, Alexey, Kim, Elena, Ezerina, Daria, Markozashvili, Diana, Malysheva, Daria, Planche, Emmeline, Lemmers, Richard J L F, van der Maarel, Silvère M, Laoudj-Chenivesse, Dalila, Lipinski, Marc, Vassetzky, Yegor S
Publicado em 2014

Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy

Por Lemmers, Richard J. L. F. , Wohlgemuth, Mariëlle , van der Gaag, Kristiaan J. , van der Vliet, Patrick J. , van Teijlingen, Corrie M. M. , de Knijff, Peter , Padberg, George W. , Frants, Rune R. , van der Maarel, Silvère M. 
Publicado em 2007

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

Por Snider, Lauren, Asawachaicharn, Amy, Tyler, Ashlee E., Geng, Linda N., Petek, Lisa M., Maves, Lisa, Miller, Daniel G., Lemmers, Richard J.L.F., Winokur, Sara T., Tawil, Rabi, van der Maarel, Silvère M., Filippova, Galina N., Tapscott, Stephen J.
Publicado em 2009

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes...

Por van der Maarel, Silvère M., Deidda, Giancarlo, Lemmers, Richard J. L. F., van Overveld, Petra G. M., van der Wielen, Michiel, Hewitt, Jane E., Sandkuijl, Lodewijk, Bakker, Bert, van Ommen, Gert-Jan B., Padberg, George W., Frants, Rune R.
Publicado em 2000

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

Por Balog, Judit, Thijssen, Peter E., Shadle, Sean, Straasheijm, Kirsten R., van der Vliet, Patrick J., Krom, Yvonne D., van den Boogaard, Marlinde L., de Jong, Annika, F Lemmers, Richard J. L., Tawil, Rabi, Tapscott, Stephen J., van der Maarel, Silvère M.
Publicado no Epigenetics (2015)

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

Por 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.
Publicado no Hum Mutat (2015)

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

Por Goselink, Rianne J. M., Schreuder, Tim H. A., Mul, Karlien, Voermans, Nicol C., Pelsma, Maaike, de Groot, Imelda J. M., van Alfen, Nens, Franck, Bas, Theelen, Thomas, Lemmers, Richard J., Mah, Jean K., van der Maarel, Silvère M., van Engelen, Baziel G., Erasmus, Corrie E.
Publicado no BMC Neurol (2016)

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Por Lemmers, Richard J.L.F., van der Vliet, Patrick J., Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G., Snider, Lauren, Straasheijm, Kirsten R., Jan van Ommen, Gert, Padberg, George W., Miller, Daniel G., Tapscott, Stephen J., Tawil, Rabi, Frants, Rune R., van der Maarel, Silvère M.
Publicado no Science (2010)

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Por Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Marianne, Salviati, Leonardo, Casarin, Alberto, Pegoraro, Elena, Tawil, Rabi, Bakker, Egbert, Tapscott, Stephen J., Desnuelle, Claude, van der Maarel, Silvère M.
Publicado em 2013

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

Por Chen, Kelan, Hu, Jiang, Moore, Darcy L., Liu, Ruijie, Kessans, Sarah A., Breslin, Kelsey, Lucet, Isabelle S., Keniry, Andrew, Leong, Huei San, Parish, Clare L., Hilton, Douglas J., Lemmers, Richard J. L. F., van der Maarel, Silvère M., Czabotar, Peter E., Dobson, Renwick C. J., Ritchie, Matthew E., Kay, Graham F., Murphy, James M., Blewitt, Marnie E.
Publicado no Proc Natl Acad Sci U S A (2015)