| P50 | author | Silvère M van der Maarel | Q59661580 |
| | Rune Frants | Q77085026 |
| P2860 | cites work | Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene | Q22011158 |
| | Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD) | Q24670624 |
| | Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients | Q24800026 |
| | Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element | Q28141267 |
| | Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy | Q29039571 |
| | THE COMPLEX STRUCTURE AND DYNAMIC EVOLUTION OF HUMAN SUBTELOMERES | Q29393384 |
| | FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit | Q29398634 |
| | Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy | Q30039698 |
| | Inappropriate Gene Activation in FSHD | Q30050619 |
| | DNA methylation in health and disease | Q30659938 |
| | Linkage in human heterochromatin between highly divergent Sau3A repeats and a new family of repeated DNA sequences (HaeIII family). | Q30868732 |
| | Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD) | Q33677292 |
| | Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy | Q33677298 |
| | Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases | Q33683060 |
| | Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy | Q33909967 |
| | Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. | Q33910577 |
| | Methylation of the FSHD syndrome-linked subtelomeric repeat in normal and FSHD cell cultures and tissues | Q34101814 |
| | De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. | Q34146154 |
| | Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere | Q34152358 |
| | Size-dependent positioning of human chromosomes in interphase nuclei | Q34173406 |
| | Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. | Q34266381 |
| | Linkage studies in facioscapulohumeral muscular dystrophy (FSHD) | Q35195737 |
| | A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). | Q35430930 |
| | Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A. | Q35559909 |
| | The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease | Q35571262 |
| | High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families | Q35643770 |
| | Laminopathies: involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases | Q35897196 |
| | The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres | Q36322711 |
| | Physical Mapping Evidence for a Duplicated Region on Chromosome 10qter Showing High Homology with the Facioscapulohumeral Muscular Dystrophy Locus on Chromosome 4qter | Q36684384 |
| | Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved "chromatin folding code". | Q38146435 |
| | Cytogenetic and immuno-FISH analysis of the 4q subtelomeric region, which is associated with facioscapulohumeral muscular dystrophy | Q40556942 |
| | Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q | Q40632162 |
| | Large-scale chromatin organization of the major histocompatibility complex and other regions of human chromosome 6 and its response to interferon in interphase nuclei | Q40888834 |
| | Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. | Q40896518 |
| | Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease? | Q40924201 |
| | Human centromeric DNAs. | Q41578221 |
| | Global chromosome positions are transmitted through mitosis in mammalian cells | Q44373942 |
| | Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? | Q46039256 |
| | Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy. | Q46200492 |
| | The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease. | Q46971971 |
| | Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group | Q47331054 |
| | Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) | Q47354966 |
| | D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection | Q47447287 |
| | The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females | Q48031844 |
| | Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains | Q48046737 |
| | The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes | Q48071488 |
| | Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy | Q48080420 |
| | Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin | Q48319929 |
| | Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. | Q50503454 |
| | Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. | Q51993350 |
| | Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. | Q55052229 |
| | Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16 | Q56550708 |
| | Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events | Q56969142 |
| | Mitochondria and the death of oocytes | Q59075483 |
| | Somatic mosaicism in FSHD often goes undetected | Q60297067 |
| | Non-random radial arrangements of interphase chromosome territories: evolutionary considerations and functional implications | Q61864006 |
| | Diagnostic criteria for facioscapulohumeral muscular dystrophy | Q67895753 |
| | Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oogenesis | Q71501090 |
| | Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1 | Q71902167 |
| | The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter | Q72213912 |
| | Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD) | Q72213917 |
| | Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35 | Q72213930 |
| | Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases | Q72586574 |
| | Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity | Q73227143 |
| | Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis | Q74785774 |
| | Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis | Q77402244 |
| | Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats | Q78383541 |
| | FSHD in Chinese population: characteristics of translocation and genotype-phenotype correlation | Q80436929 |
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | facioscapulohumeral muscular dystrophy | Q1399182 |
| P304 | page(s) | 375-386 | |
| P577 | publication date | 2005-01-24 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy | |
| P478 | volume | 76 | |