R. Lemmers

发表

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.

L. Sandkuijl, R. Frants, R. Lemmers, 2000, Human molecular genetics.

FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients

R. Frants, J. Hewitt, M. Geel, 2004, Journal of Medical Genetics.

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

L. Sandkuijl, R. Frants, J. Hewitt, 2000, American journal of human genetics.

Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

E. Bakker, R. Frants, J. Hewitt, 1998, Human molecular genetics.

Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy

S. V. D. Maarel, R. Frants, R. Lemmers, 2006, Neuromuscular Disorders.

Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing.

R. Frants, J. Hewitt, M. Maconochie, 1999, Gene.

Identification of a novel β-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35

P. D. de Jong, J. Hewitt, J. V. van Deutekom, 2000, Cytogenetic and Genome Research.

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1.

E. Bakker, R. Frants, J. V. van Deutekom, 1996, Human molecular genetics.

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.

J E Hewitt, R. Frants, J. Hewitt, 1996, Human molecular genetics.

DEFINING THE DIVERSITY OF HNRNPA1 MUTATIONS IN CLINICAL PHENOTYPE AND PATHOMECHANISM

H. J. Kim, M. Wheeler, J. Taylor, 2021, medRxiv.

Clinical features of facioscapulohumeral muscular dystrophy 2

M. Tarnopolsky, B. Engelen, S. Kiuru-Enari, 2010, Neurology.

Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles

S. M. van der Maarel, H. Dauwerse, G. Padberg, 2003, Neurology.

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4

J. Gilbert, J. Stajich, R. Frants, 2007, Neurology.

D4F104S1 deletion in facioscapulohumeral muscular dystrophy

D. Cooper, T. Haaf, M. Upadhyaya, 2003, Neurology.

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

M. Zatz, S. M. van der Maarel, J. Gurgel-Giannetti, 2004, Journal of Medical Genetics.