Search Results - "Vliet, Patrick J van der"

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

“…Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1–10 units. The residual…”
Get full text

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain by Lemmers, Richard J L F, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M

“…Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 ( ) can cause facioscapulohumeral muscular dystrophy type 2…”
Get more information

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

“…Autosomal dominant facio scapulo humeral muscular dystrophy (FSHD) is mainly characterized by progressive wasting and weakness of the facial, shoulder, and…”
Get full text

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges by Efthymiou, Stephanie, Lemmers, Richard J L F, Vishnu, Venugopalan Y, Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J, Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M, Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M, Hanna, Michael G, Bugiardini, Enrico

“…Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy in adults, and it is associated with local D4Z4 chromatin…”
Get full text

Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy by 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

“…Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles…”
Get full text

Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene by Lemmers, Richard J L F, van der Vliet, Patrick J, Blatnik, Ana, Balog, Judit, Zidar, Janez, Henderson, Don, Goselink, Rianne, Tapscott, Stephen J, Voermans, Nicol C, Tawil, Rabi, Padberg, George W A M, van Engelen, Baziel Gm, van der Maarel, Silvère M

“…Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper…”
Get more information

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing by Goossens, Remko, van den Boogaard, Marlinde L, Lemmers, Richard J L F, Balog, Judit, van der Vliet, Patrick J, Willemsen, Iris M, Schouten, Julie, Maggio, Ignazio, van der Stoep, Nienke, Hoeben, Rob C, Tapscott, Stephen J, Geijsen, Niels, Gonçalves, Manuel A F V, Sacconi, Sabrina, Tawil, Rabi, van der Maarel, Silvère M

“…Facioscapulohumeral dystrophy (FSHD) is associated with partial chromatin relaxation of the retrogene containing D4Z4 macrosatellite repeats on chromosome 4,…”
Get more information

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect by Lemmers, Richard J L F, van der Vliet, Patrick J, Granado, David San Leon, van der Stoep, Nienke, Buermans, Henk, van Schendel, Robin, Schimmel, Joost, de Visser, Marianne, van Coster, Rudy, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C, Rogers, Mark, van der Maarel, Silvère M

“…Abstract Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy clinically characterized by weakness in the facial, shoulder girdle and upper a…”
Get full text

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines by Giardina, Emiliano, Camaño, Pilar, Burton‐Jones, Sarah, Ravenscroft, Gina, Henning, Franclo, Magdinier, Frederique, Stoep, Nienke, Vliet, Patrick J., Bernard, Rafaëlle, Tomaselli, Pedro J., Davis, Mark R., Nishino, Ichizo, Oflazer, Piraye, Race, Valerie, Vishnu, Venugopalan Y., Williams, Victoria, Sobreira, Cláudia F. R., Maarel, Silvere M., Moore, Steve A., Voermans, Nicol C., Lemmers, Richard J. L. F.

“…The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the…”
Get full text

DUX4 expression in cancer induces a metastable early embryonic totipotent program by Smith, Andrew A., Nip, Yee, Bennett, Sean R., Hamm, Danielle C., Lemmers, Richard J.L.F., van der Vliet, Patrick J., Setty, Manu, van der Maarel, Silvère M., Tapscott, Stephen J.

“…The transcription factor DUX4 regulates a portion of the zygotic gene activation (ZGA) program in the early embryo. Many cancers express DUX4 but it is unknown…”
Get full text

Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1 by Mul, Karlien, Voermans, Nicol C., Lemmers, Richard J.L.F., Jonker, Marianne A., van der Vliet, Patrick J., Padberg, George W., van Engelen, Baziel G.M., van der Maarel, Silvère M., Horlings, Corinne G.C.

“…To determine how much of the clinical variability in facioscapulohumeral muscular dystrophy type 1 (FSHD1) can be explained by the D4Z4 repeat array size, D4Z4…”
Get full text

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study by Goselink, Rianne J.M., Schreuder, Tim H.A., van Alfen, Nens, de Groot, Imelda J.M., Jansen, Merel, Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Stoep, Nienke, Theelen, Thomas, Voermans, Nicol C., van der Maarel, Silvère M., van Engelen, Baziel G.M., Erasmus, Corrie E.

“…Objective Facioscapulohumeral dystrophy (FSHD) is one of the most frequent heritable muscular dystrophies, with a large variety in age at onset and disease…”
Get full text

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2 by Lemmers, Richard Jlf, van der Vliet, Patrick J, Balog, Judit, Goeman, Jelle J, Arindrarto, Wibowo, Krom, Yvonne D, Straasheijm, Kirsten R, Debipersad, Rashmie D, Özel, Gizem, Sowden, Janet, Snider, Lauren, Mul, Karlien, Sacconi, Sabrina, van Engelen, Baziel, Tapscott, Stephen J, Tawil, Rabi, van der Maarel, Silvère M

“…Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4…”
Get full text

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

“…Subtelomeres are dynamic structures composed of blocks of homologous DNA sequences. These so-called duplicons are dispersed over many chromosome ends. We…”
Get full text

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2 by van den Boogaard, Marlinde L, Lemmers, Richard J F L, Camaño, Pilar, van der Vliet, Patrick J, Voermans, Nicol, van Engelen, Baziel G M, Lopez de Munain, Adolfo, Tapscott, Stephen J, van der Stoep, Nienke, Tawil, Rabi, van der Maarel, Silvère M

“…Facioscapulohumeral muscular dystrophy (FSHD) predominantly affects the muscles in the face, trunk and upper extremities and is marked by large clinical…”
Get full text

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions by Schaap, Mireille, Lemmers, Richard J L F, Maassen, Roel, van der Vliet, Patrick J, Hoogerheide, Lennart F, van Dijk, Herman K, Baştürk, Nalan, de Knijff, Peter, van der Maarel, Silvère M

“…Macrosatellite repeats (MSRs), usually spanning hundreds of kilobases of genomic DNA, comprise a significant proportion of the human genome. Because of their…”
Get full text

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients by van der Wal, Erik, den Hamer, Bianca, van der Vliet, Patrick J., Tok, Merve, Brands, Tom, Eussen, Bert, Lemmers, Richard J.L.F., Freund, Christian, de Klein, Annelies, Buijsen, Ronald A.M., van Roon-Mom, Willeke M.C., Tawil, Rabi, van der Maarel, Silvère M., de Greef, Jessica C.

“…Facioscapulohumeral dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4q resulting in sporadic misexpression of the…”
Get full text

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy by van den Boogaard, Marlinde L., Lemmers, Richard J.L.F., Balog, Judit, Wohlgemuth, Mariëlle, Auranen, Mari, Mitsuhashi, Satomi, van der Vliet, Patrick J., Straasheijm, Kirsten R., van den Akker, Rob F.P., Kriek, Marjolein, Laurense-Bik, Marlies E.Y., Raz, Vered, van Ostaijen-ten Dam, Monique M., Hansson, Kerstin B.M., van der Kooi, Elly L., Kiuru-Enari, Sari, Udd, Bjarne, van Tol, Maarten J.D., Nishino, Ichizo, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., van der Maarel, Silvère M.

“…Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4…”
Get full text

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

“…Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype…”
Get full text

Adding quantitative muscle MRI to the FSHD clinical trial toolbox by Mul, Karlien, Vincenten, Sanne C.C, Voermans, Nicol C, Lemmers, Richard J.L.F, van der Vliet, Patrick J, van der Maarel, Silvère M, Padberg, George W, Horlings, Corinne G.C, van Engelen, Baziel G.M

“…OBJECTIVE:To add quantitative muscle MRI to the clinical trial toolbox for facioscapulohumeral muscular dystrophy (FSHD) by correlating it to clinical outcome…”
Get full text