-
1
-
-
24344442909
-
Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
-
Linardopoulou E.V., Williams E.M., Fan Y., Friedman C., Young J.M., and Trask B.J. Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature 437 (2005) 94-100
-
(2005)
Nature
, vol.437
, pp. 94-100
-
-
Linardopoulou, E.V.1
Williams, E.M.2
Fan, Y.3
Friedman, C.4
Young, J.M.5
Trask, B.J.6
-
2
-
-
0036244955
-
The complex structure and dynamic evolution of human subtelomeres
-
Mefford H.C., and Trask B.J. The complex structure and dynamic evolution of human subtelomeres. Nat. Rev. Genet. 3 (2002) 91-102
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 91-102
-
-
Mefford, H.C.1
Trask, B.J.2
-
4
-
-
33745373606
-
Primate segmental duplications: Crucibles of evolution, diversity and disease
-
Bailey J.A., and Eichler E.E. Primate segmental duplications: Crucibles of evolution, diversity and disease. Nat. Rev. Genet. 7 (2006) 552-564
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 552-564
-
-
Bailey, J.A.1
Eichler, E.E.2
-
5
-
-
0035504448
-
Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes
-
Mefford H.C., Linardopoulou E., Coil D., van den Engh G., and Trask B.J. Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes. Hum. Mol. Genet. 10 (2001) 2363-2372
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2363-2372
-
-
Mefford, H.C.1
Linardopoulou, E.2
Coil, D.3
van den Engh, G.4
Trask, B.J.5
-
6
-
-
0026085703
-
Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16
-
Wilkie A.O., Higgs D.R., Rack K.A., Buckle V.J., Spurr N.K., Fischel-Ghodsian N., Ceccherini I., Brown W.R., and Harris P.C. Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell 64 (1991) 595-606
-
(1991)
Cell
, vol.64
, pp. 595-606
-
-
Wilkie, A.O.1
Higgs, D.R.2
Rack, K.A.3
Buckle, V.J.4
Spurr, N.K.5
Fischel-Ghodsian, N.6
Ceccherini, I.7
Brown, W.R.8
Harris, P.C.9
-
7
-
-
55949083347
-
Epigenetic mechanisms of facioscapulohumeral muscular dystrophy
-
de Greef J.C., Frants R.R., and van der Maarel S.M. Epigenetic mechanisms of facioscapulohumeral muscular dystrophy. Mutat. Res. 647 (2008) 94-102
-
(2008)
Mutat. Res.
, vol.647
, pp. 94-102
-
-
de Greef, J.C.1
Frants, R.R.2
van der Maarel, S.M.3
-
8
-
-
0036788610
-
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
-
Lemmers R.J., de Kievit P., Sandkuijl L., Padberg G.W., van Ommen G.J., Frants R.R., and van der Maarel S.M. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat. Genet. 32 (2002) 235-236
-
(2002)
Nat. Genet.
, vol.32
, pp. 235-236
-
-
Lemmers, R.J.1
de Kievit, P.2
Sandkuijl, L.3
Padberg, G.W.4
van Ommen, G.J.5
Frants, R.R.6
van der Maarel, S.M.7
-
9
-
-
0035707952
-
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin
-
van Geel M., Dickson M.C., Beck A.F., Bolland D.J., Frants R.R., van der Maarel S.M., de Jong P.J., and Hewitt J.E. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics 79 (2002) 210-217
-
(2002)
Genomics
, vol.79
, pp. 210-217
-
-
van Geel, M.1
Dickson, M.C.2
Beck, A.F.3
Bolland, D.J.4
Frants, R.R.5
van der Maarel, S.M.6
de Jong, P.J.7
Hewitt, J.E.8
-
10
-
-
35348907287
-
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
-
Lemmers R.J., Wohlgemuth M., van der Gaag K.J., van der Vliet P.J., van Teijlingen C.M., de Knijff P., Padberg G.W., Frants R.R., and van der Maarel S.M. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 81 (2007) 884-894
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 884-894
-
-
Lemmers, R.J.1
Wohlgemuth, M.2
van der Gaag, K.J.3
van der Vliet, P.J.4
van Teijlingen, C.M.5
de Knijff, P.6
Padberg, G.W.7
Frants, R.R.8
van der Maarel, S.M.9
-
11
-
-
0028911841
-
The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter
-
Bakker E., Wijmenga C., Vossen R.H., Padberg G.W., Hewitt J., van der Wielen M., Rasmussen K., and Frants R.R. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 2 (1995) 39-44
-
(1995)
Muscle Nerve
, vol.2
, pp. 39-44
-
-
Bakker, E.1
Wijmenga, C.2
Vossen, R.H.3
Padberg, G.W.4
Hewitt, J.5
van der Wielen, M.6
Rasmussen, K.7
Frants, R.R.8
-
12
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
-
Deidda G., Cacurri S., Piazzo N., and Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J. Med. Genet. 33 (1996) 361-365
-
(1996)
J. Med. Genet.
, vol.33
, pp. 361-365
-
-
Deidda, G.1
Cacurri, S.2
Piazzo, N.3
Felicetti, L.4
-
13
-
-
0035194812
-
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis
-
Lemmers R.J.L., de Kievit P., van Geel M., van der Wielen M.J., Bakker E., Padberg G.W., Frants R.R., and van der Maarel S.M. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann. Neurol. 50 (2001) 816-819
-
(2001)
Ann. Neurol.
, vol.50
, pp. 816-819
-
-
Lemmers, R.J.L.1
de Kievit, P.2
van Geel, M.3
van der Wielen, M.J.4
Bakker, E.5
Padberg, G.W.6
Frants, R.R.7
van der Maarel, S.M.8
-
14
-
-
0029827344
-
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1
-
van Deutekom J.C., Bakker E., Lemmers R.J., van der Wielen M.J., Bik E., Hofker M.H., Padberg G.W., and Frants R.R. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum. Mol. Genet. 5 (1996) 1997-2003
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1997-2003
-
-
van Deutekom, J.C.1
Bakker, E.2
Lemmers, R.J.3
van der Wielen, M.J.4
Bik, E.5
Hofker, M.H.6
Padberg, G.W.7
Frants, R.R.8
-
15
-
-
0034703873
-
Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity
-
van Overveld P.G., Lemmers R.J., Deidda G., Sandkuijl L., Padberg G.W., Frants R.R., and van der Maarel S.M. Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity. Hum. Mol. Genet. 9 (2000) 2879-2884
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2879-2884
-
-
van Overveld, P.G.1
Lemmers, R.J.2
Deidda, G.3
Sandkuijl, L.4
Padberg, G.W.5
Frants, R.R.6
van der Maarel, S.M.7
-
16
-
-
2642534599
-
Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients
-
Matsumura T., Goto K., Yamanaka G., Lee J., Zhang C., Hayashi Y.K., and Arahata K. Chromosome 4q;10q translocations; Comparison with different ethnic populations and FSHD patients. BMC Neurol. 2 (2002) 7
-
(2002)
BMC Neurol.
, vol.2
, pp. 7
-
-
Matsumura, T.1
Goto, K.2
Yamanaka, G.3
Lee, J.4
Zhang, C.5
Hayashi, Y.K.6
Arahata, K.7
-
17
-
-
3543137156
-
FSHD in Chinese population: Characteristics of translocation and genotype-phenotype correlation
-
Wu Z.Y., Wang Z.Q., Murong S.X., and Wang N. FSHD in Chinese population: Characteristics of translocation and genotype-phenotype correlation. Neurology 63 (2004) 581-583
-
(2004)
Neurology
, vol.63
, pp. 581-583
-
-
Wu, Z.Y.1
Wang, Z.Q.2
Murong, S.X.3
Wang, N.4
-
18
-
-
3042637399
-
Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy
-
Lemmers R.J., van Overveld P.G., Sandkuijl L.A., Vrieling H., Padberg G.W., Frants R.R., and van der Maarel S.M. Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 75 (2004) 44-53
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 44-53
-
-
Lemmers, R.J.1
van Overveld, P.G.2
Sandkuijl, L.A.3
Vrieling, H.4
Padberg, G.W.5
Frants, R.R.6
van der Maarel, S.M.7
-
19
-
-
79959503826
-
The International HapMap Project
-
International HapMap Consortium
-
International HapMap Consortium. The International HapMap Project. Nature 426 (2003) 789-796
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
20
-
-
0037066430
-
A human genome diversity cell line panel
-
Cann H.M., de Toma C., Cazes L., Legrand M.F., Morel V., Piouffre L., Bodmer J., Bodmer W.F., Bonne-Tamir B., Cambon-Thomsen A., et al. A human genome diversity cell line panel. Science 296 (2002) 261-262
-
(2002)
Science
, vol.296
, pp. 261-262
-
-
Cann, H.M.1
de Toma, C.2
Cazes, L.3
Legrand, M.F.4
Morel, V.5
Piouffre, L.6
Bodmer, J.7
Bodmer, W.F.8
Bonne-Tamir, B.9
Cambon-Thomsen, A.10
-
21
-
-
0036178949
-
A nomenclature system for the tree of human Y-chromosomal binary haplogroups
-
Y Chromosome Consortium
-
Y Chromosome Consortium. A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res. 12 (2002) 339-348
-
(2002)
Genome Res.
, vol.12
, pp. 339-348
-
-
-
22
-
-
14044260104
-
Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments
-
Buzhov B.T., Lemmers R.J., Tournev I., Dikova C., Kremensky I., Petrova J., Frants R.R., and van der Maarel S.M. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments. Hum. Genet. 116 (2005) 262-266
-
(2005)
Hum. Genet.
, vol.116
, pp. 262-266
-
-
Buzhov, B.T.1
Lemmers, R.J.2
Tournev, I.3
Dikova, C.4
Kremensky, I.5
Petrova, J.6
Frants, R.R.7
van der Maarel, S.M.8
-
23
-
-
61449176890
-
Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event
-
Rudd M.K., Endicott R.M., Friedman C., Walker M., Young J.M., Osoegawa K., de Jong P.J., Green E.D., and Trask B.J. Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event. Genome Res. 19 (2009) 33-41
-
(2009)
Genome Res.
, vol.19
, pp. 33-41
-
-
Rudd, M.K.1
Endicott, R.M.2
Friedman, C.3
Walker, M.4
Young, J.M.5
Osoegawa, K.6
de Jong, P.J.7
Green, E.D.8
Trask, B.J.9
-
24
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C., Hewitt J.E., Sandkuijl L.A., Clark L.N., Wright T.J., Dauwerse H.G., Gruter A.M., Hofker M.H., Moerer P., Williamson R., et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet. 2 (1992) 26-30
-
(1992)
Nat. Genet.
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.N.4
Wright, T.J.5
Dauwerse, H.G.6
Gruter, A.M.7
Hofker, M.H.8
Moerer, P.9
Williamson, R.10
-
25
-
-
33947098405
-
Hybridization analysis of D4Z4 repeat arrays linked to FSHD
-
Ehrlich M., Jackson K., Tsumagari K., Camano P., and Lemmers R.J. Hybridization analysis of D4Z4 repeat arrays linked to FSHD. Chromosoma 116 (2007) 107-116
-
(2007)
Chromosoma
, vol.116
, pp. 107-116
-
-
Ehrlich, M.1
Jackson, K.2
Tsumagari, K.3
Camano, P.4
Lemmers, R.J.5
-
26
-
-
0030203863
-
TreeView: An application to display phylogenetic trees on personal computers
-
Page R.D. TreeView: An application to display phylogenetic trees on personal computers. Comput. Appl. Biosci. 12 (1996) 357-358
-
(1996)
Comput. Appl. Biosci.
, vol.12
, pp. 357-358
-
-
Page, R.D.1
-
28
-
-
34547860403
-
Going the distance: Hhuman population genetics in a clinal world
-
Handley L.J., Manica A., Goudet J., and Balloux F. Going the distance: Hhuman population genetics in a clinal world. Trends Genet. 23 (2007) 432-439
-
(2007)
Trends Genet.
, vol.23
, pp. 432-439
-
-
Handley, L.J.1
Manica, A.2
Goudet, J.3
Balloux, F.4
-
29
-
-
33947409919
-
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
-
Rossi M., Ricci E., Colantoni L., Galluzzi G., Frusciante R., Tonali P.A., and Felicetti L. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure. BMC Med. Genet. 8 (2007) 8
-
(2007)
BMC Med. Genet.
, vol.8
, pp. 8
-
-
Rossi, M.1
Ricci, E.2
Colantoni, L.3
Galluzzi, G.4
Frusciante, R.5
Tonali, P.A.6
Felicetti, L.7
-
30
-
-
34547754037
-
Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy
-
Clapp J., Mitchell L.M., Bolland D.J., Fantes J., Corcoran A.E., Scotting P.J., Armour J.A.L., and Hewitt J.E. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 81 (2007) 264-279
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 264-279
-
-
Clapp, J.1
Mitchell, L.M.2
Bolland, D.J.3
Fantes, J.4
Corcoran, A.E.5
Scotting, P.J.6
Armour, J.A.L.7
Hewitt, J.E.8
-
31
-
-
0033910121
-
De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10
-
van der Maarel S.M., Deidda G., Lemmers R.J., van Overveld P.G., van der Wielen M., Hewitt J.E., Sandkuijl L., Bakker B., van Ommen G.J., Padberg G.W., et al. De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10. Am. J. Hum. Genet. 66 (2000) 26-35
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 26-35
-
-
van der Maarel, S.M.1
Deidda, G.2
Lemmers, R.J.3
van Overveld, P.G.4
van der Wielen, M.5
Hewitt, J.E.6
Sandkuijl, L.7
Bakker, B.8
van Ommen, G.J.9
Padberg, G.W.10
-
32
-
-
20444385143
-
Bottlenecks, genetic polymorphism and speciation
-
Nei M. Bottlenecks, genetic polymorphism and speciation. Genetics 170 (2005) 1-4
-
(2005)
Genetics
, vol.170
, pp. 1-4
-
-
Nei, M.1
-
33
-
-
0031956719
-
Empirical evaluation of a test for identifying recently bottlenecked populations from allele frequency data
-
Luikart G., and Cornuet J. Empirical evaluation of a test for identifying recently bottlenecked populations from allele frequency data. Conservation Biology 12 (1998) 228-237
-
(1998)
Conservation Biology
, vol.12
, pp. 228-237
-
-
Luikart, G.1
Cornuet, J.2
-
34
-
-
38949170720
-
The genetic structure of Pacific Islanders
-
Friedlaender J.S., Friedlaender F.R., Reed F.A., Kidd K.K., Kidd J.R., Chambers G.K., Lea R.A., Loo J.H., Koki G., Hodgson J.A., et al. The genetic structure of Pacific Islanders. PLoS Genet. 4 (2008) e19
-
(2008)
PLoS Genet.
, vol.4
-
-
Friedlaender, J.S.1
Friedlaender, F.R.2
Reed, F.A.3
Kidd, K.K.4
Kidd, J.R.5
Chambers, G.K.6
Lea, R.A.7
Loo, J.H.8
Koki, G.9
Hodgson, J.A.10
-
35
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom J.C., Wijmenga C., van Tienhoven E.A., Gruter A.M., Hewitt J.E., Padberg G.W., van Ommen G.J., Hofker M.H., and Frants R.R. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum. Mol. Genet. 2 (1993) 2037-2042
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2037-2042
-
-
van Deutekom, J.C.1
Wijmenga, C.2
van Tienhoven, E.A.3
Gruter, A.M.4
Hewitt, J.E.5
Padberg, G.W.6
van Ommen, G.J.7
Hofker, M.H.8
Frants, R.R.9
|