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Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
By:
- Lemmers, Richard J L F;
- Butterfield, Russell;
- Vliet, Patrick J van der;
- Bleecker, Jan L de;
- van der Pol, Ludo;
- Dunn, Diane M;
- Erasmus, Corrie E;
- D'Hooghe, Marc;
- Verhoeven, Kristof;
- Balog, Judit;
- Bigot, Anne;
- Engelen, Baziel van;
- Statland, Jeffrey;
- Bugiardini, Enrico;
- van der Stoep, Nienke;
- Evangelista, Teresinha;
- Marini-Bettolo, Chiara;
- van den Bergh, Peter;
- Tawil, Rabi;
- Voermans, Nicol C
Publication type:
Article
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Published in:
Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454
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
Publication type:
Article
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Published in:
Biomolecules (2218-273X), 2023, v. 13, n. 11, p. 1567, doi. 10.3390/biom13111567
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.
Publication type:
Article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
By:
- Giardina, Emiliano;
- Camaño, Pilar;
- Burton‐Jones, Sarah;
- Ravenscroft, Gina;
- Henning, Franclo;
- Magdinier, Frederique;
- van der Stoep, Nienke;
- van der 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.;
- van der Maarel, Silvere M.;
- Moore, Steve A.;
- Voermans, Nicol C.
Publication type:
Article
Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 521, doi. 10.1111/cge.13446
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.
Publication type:
Article
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Published in:
2018
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.
Publication type:
journal article
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 5, p. 748, doi. 10.1093/hmg/ddab250
By:
- Lemmers, Richard J L F;
- Vliet, Patrick J van der;
- Granado, David San Leon;
- van der Stoep, Nienke;
- Buermans, Henk;
- Schendel, Robin van;
- Schimmel, Joost;
- Visser, Marianne de;
- Coster, Rudy van;
- Jeanpierre, Marc;
- Laforet, Pascal;
- Upadhyaya, Meena;
- Engelen, Baziel van;
- Sacconi, Sabrina;
- Tawil, Rabi;
- Voermans, Nicol C;
- Rogers, Mark;
- Maarel, Silvère M van der
Publication type:
Article
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 20, p. 3488, doi. 10.1093/hmg/ddy236
By:
- Lemmers, Richard J L F;
- Vliet, Patrick J van der;
- Vreijling, Jeroen P;
- Henderson, Don;
- van der Stoep, Nienke;
- Voermans, Nicol;
- Engelen, Baziel van;
- Baas, Frank;
- Sacconi, Sabrina;
- Tawil, Rabi
Publication type:
Article
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 3, p. 659, doi. 10.1093/hmg/ddu486
By:
- Lemmers, Richard J.L.F.;
- Goeman, Jelle J.;
- van der Vliet, Patrick J.;
- van Nieuwenhuizen, Merlijn P.;
- Balog, Judit;
- Vos-Versteeg, Marianne;
- Camano, Pilar;
- Ramos Arroyo, Maria Antonia;
- Jerico, Ivonne;
- Rogers, Mark T.;
- Miller, Daniel G.;
- Upadhyaya, Meena;
- Verschuuren, Jan J.G.M.;
- de Munain Arregui, Adolfo Lopez;
- van Engelen, Baziel G.M.;
- Padberg, George W.;
- Sacconi, Sabrina;
- Tawil, Rabi;
- Tapscott, Stephen J.;
- Bakker, Bert
Publication type:
Article
Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions.
Published in:
BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-143
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.
Publication type:
Article

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