-
1
-
-
0041661943
-
Nuclear and territorial topography of chromosome telomeres in human lymphocytes
-
doi:10.1016/S0014-4827(03)00208-8
-
Amrichová, J., E. Lukásová, S. Kozubek, and M. Kozubek. 2003. Nuclear and territorial topography of chromosome telomeres in human lymphocytes. Exp. Cell Res. 289:11-26. doi:10.1016/S0014-4827(03)00208-8
-
(2003)
Exp. Cell Res.
, vol.289
, pp. 11-26
-
-
Amrichová, J.1
Lukásová, E.2
Kozubek, S.3
Kozubek, M.4
-
2
-
-
77949318270
-
DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation
-
doi:10.1371/journal.pone.0007482
-
Ansseau, E., D. Laoudj-Chenivesse, A. Marcowycz, A. Tassin, C. Vanderplanck, S. Sauvage, M. Barro, I. Mahieu, A. Leroy, I. Leclercq, et al. 2009. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. PLoS One. 4:e7482. doi:10.1371/journal.pone.0007482
-
(2009)
PLoS One
, vol.4
-
-
Ansseau, E.1
Laoudj-Chenivesse, D.2
Marcowycz, A.3
Tassin, A.4
Vanderplanck, C.5
Sauvage, S.6
Barro, M.7
Mahieu, I.8
Leroy, A.9
Leclercq, I.10
-
3
-
-
65549085668
-
Transcriptional regulation differs in affected facioscapulo-humeral muscular dystrophy patients compared to asymptomatic related carriers
-
doi:10.1073/pnas.0901573106
-
Arashiro, P., I. Eisenberg, A.T. Kho, A.M. Cerqueira, M. Canovas, H.C. Silva, R.C. Pavanello, S. Verjovski-Almeida, L.M. Kunkel, and M. Zatz. 2009. Transcriptional regulation differs in affected facioscapulo-humeral muscular dystrophy patients compared to asymptomatic related carriers. Proc. Natl. Acad. Sci. USA. 106:6220-6225. doi:10.1073/pnas.0901573106
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 6220-6225
-
-
Arashiro, P.1
Eisenberg, I.2
Kho, A.T.3
Cerqueira, A.M.4
Canovas, M.5
Silva, H.C.6
Pavanello, R.C.7
Verjovski-Almeida, S.8
Kunkel, L.M.9
Zatz, M.10
-
4
-
-
0028911841
-
The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter
-
doi:10.1002/mus.880181309
-
Bakker, E., C. Wijmenga, R.H. Vossen, G.W. Padberg, J. Hewitt, M. van der Wielen, K. Rasmussen, and R.R. Frants. 1995. The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve. 2:S39-S44. doi:10.1002/mus.880181309
-
(1995)
Muscle Nerve
, vol.2
-
-
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
-
5
-
-
0030052273
-
Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: Diagnostic approach for sporadic and familial cases
-
doi:10.1136/jmg.33.1.29
-
Bakker, E., M.J. Van der Wielen, E. Voorhoeve, P.F. Ippel, G.W. Padberg, R.R. Frants, and C. Wijmenga. 1996. Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases. J. Med. Genet. 33:29-35. doi:10.1136/jmg.33.1.29
-
(1996)
J. Med. Genet.
, vol.33
, pp. 29-35
-
-
Bakker, E.1
Van Der Wielen, M.J.2
Voorhoeve, E.3
Ippel, P.F.4
Padberg, G.W.5
Frants, R.R.6
Wijmenga, C.7
-
6
-
-
33847032960
-
The mammalian epigenome
-
doi:10.1016/j.cell.2007.01.033
-
Bernstein, B.E., A. Meissner, and E.S. Lander. 2007. The mammalian epigenome. Cell. 128:669-681. doi:10.1016/j.cell.2007.01.033
-
(2007)
Cell
, vol.128
, pp. 669-681
-
-
Bernstein, B.E.1
Meissner, A.2
Lander, E.S.3
-
7
-
-
42249093677
-
Isolation of an active step I spliceosome and composition of its RNP core
-
doi:10.1038/nature06842
-
Bessonov, S., M. Anokhina, C.L. Will, H. Urlaub, and R. Lührmann. 2008. Isolation of an active step I spliceosome and composition of its RNP core. Nature. 452:846-850. doi:10.1038/nature06842
-
(2008)
Nature
, vol.452
, pp. 846-850
-
-
Bessonov, S.1
Anokhina, M.2
Will, C.L.3
Urlaub, H.4
Lührmann, R.5
-
8
-
-
0036382832
-
A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35
-
doi:10.1038/sj.mp.4001113
-
Blair, I.P., L.J. Adams, R.F. Badenhop, M.J. Moses, A. Scimone, J.A. Morris, L. Ma, C.P. Austin, J.A. Donald, P.B. Mitchell, and P.R. Schofield. 2002. A transcript map encompassing a susceptibility locus for bipolar affective disorder on chromosome 4q35. Mol. Psychiatry. 7:867-873. doi:10.1038/sj.mp. 4001113
-
(2002)
Mol. Psychiatry
, vol.7
, pp. 867-873
-
-
Blair, I.P.1
Adams, L.J.2
Badenhop, R.F.3
Moses, M.J.4
Scimone, A.5
Morris, J.A.6
Ma, L.7
Austin, C.P.8
Donald, J.A.9
Mitchell, P.B.10
Schofield, P.R.11
-
9
-
-
69149087644
-
Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation
-
doi:10.1186/1741-7007-7-41
-
Bodega, B., G.D. Ramirez, F. Grasser, S. Cheli, S. Brunelli, M. Mora, R. Meneveri, A. Marozzi, S. Mueller, E. Battaglioli, and E. Ginelli. 2009. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol. 7:41. doi:10.1186/1741-7007-7- 41
-
(2009)
BMC Biol
, vol.7
, pp. 41
-
-
Bodega, B.1
Ramirez, G.D.2
Grasser, F.3
Cheli, S.4
Brunelli, S.5
Mora, M.6
Meneveri, R.7
Marozzi, A.8
Mueller, S.9
Battaglioli, E.10
Ginelli, E.11
-
10
-
-
54349088194
-
An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies
-
doi:10.1038/emboj.2008.201
-
Bosnakovski, D., Z. Xu, E.J. Gang, C.L. Galindo, M. Liu, T. Simsek, H.R. Garner, S. Agha-Mohammadi, A. Tassin, F. Coppée, et al. 2008a. An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies. EMBO J. 27:2766-2779. doi:10.1038/emboj.2008.201
-
(2008)
EMBO J
, vol.27
, pp. 2766-2779
-
-
Bosnakovski, D.1
Xu, Z.2
Gang, E.J.3
Galindo, C.L.4
Liu, M.5
Simsek, T.6
Garner, H.R.7
Agha-Mohammadi, S.8
Tassin, A.9
Coppée, F.10
-
11
-
-
53949112045
-
DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation
-
doi:10.1016/j.expneurol.2008.07.022
-
Bosnakovski, D., S. Lamb, T. Simsek, Z. Xu, A. Belayew, R. Perlingeiro, and M. Kyba. 2008b. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. Exp. Neurol. 214:87-96. doi:10.1016/j.expneurol.2008.07.022
-
(2008)
Exp. Neurol.
, vol.214
, pp. 87-96
-
-
Bosnakovski, D.1
Lamb, S.2
Simsek, T.3
Xu, Z.4
Belayew, A.5
Perlingeiro, R.6
Kyba, M.7
-
12
-
-
26244434407
-
Is spinal muscular atrophy the result of defects in motor neuron processes?
-
doi:10.1002/bies.20283
-
Briese, M., B. Esmaeili, and D.B. Sattelle. 2005. Is spinal muscular atrophy the result of defects in motor neuron processes? Bioessays. 27:946-957. doi:10.1002/bies.20283
-
(2005)
Bioessays
, vol.27
, pp. 946-957
-
-
Briese, M.1
Esmaeili, B.2
Sattelle, D.B.3
-
13
-
-
34447287334
-
Skeletal muscle progenitor cells and the role of Pax genes
-
doi:10.1016/j.crvi.2007.03.015
-
Buckingham, M. 2007. Skeletal muscle progenitor cells and the role of Pax genes. C. R. Biol. 330:530-533. doi:10.1016/j.crvi.2007.03.015
-
(2007)
C. R. Biol.
, vol.330
, pp. 530-533
-
-
Buckingham, M.1
-
14
-
-
0032231371
-
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy
-
doi:10.1086/301906
-
Cacurri, S., N. Piazzo, G. Deidda, E. Vigneti, G. Galluzzi, L. Colantoni, B. Merico, E. Ricci, and L. Felicetti. 1998. Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 63:181-190. doi:10.1086/301906
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 181-190
-
-
Cacurri, S.1
Piazzo, N.2
Deidda, G.3
Vigneti, E.4
Galluzzi, G.5
Colantoni, L.6
Merico, B.7
Ricci, E.8
Felicetti, L.9
-
15
-
-
0034703413
-
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
-
Calado, A., F.M. Tomé, B. Brais, G.A. Rouleau, U. Kühn, E. Wahle, and M. Carmo-Fonseca. 2000. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum. Mol. Genet. 9:2321-2328.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2321-2328
-
-
Calado, A.1
Tomé, F.M.2
Brais, B.3
Rouleau, G.A.4
Kühn, U.5
Wahle, E.6
Carmo-Fonseca, M.7
-
16
-
-
73349092441
-
Histones: Annotating chromatin
-
doi:10.1146/annurev.genet.032608.103928
-
Campos, E.I., and D. Reinberg. 2009. Histones: annotating chromatin. Annu. Rev. Genet. 43:559-599. doi:10.1146/annurev.genet.032608.103928
-
(2009)
Annu. Rev. Genet.
, vol.43
, pp. 559-599
-
-
Campos, E.I.1
Reinberg, D.2
-
17
-
-
33749605124
-
Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes
-
doi:10.1002/pmic.200600056
-
Celegato, B., D. Capitanio, M. Pescatori, C. Romualdi, B. Pacchioni, S. Cagnin, A. Viganò, L. Colantoni, S. Begum, E. Ricci, et al. 2006. Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes. Proteomics. 6:5303-5321. doi:10.1002/pmic.200600056
-
(2006)
Proteomics.
, vol.6
, pp. 5303-5321
-
-
Celegato, B.1
Capitanio, D.2
Pescatori, M.3
Romualdi, C.4
Pacchioni, B.5
Cagnin, S.6
Viganò, A.7
Colantoni, L.8
Begum, S.9
Ricci, E.10
-
18
-
-
70450224476
-
Macrosatellite epigenetics: The two faces of DXZ4 and D4Z4
-
doi:10.1007/s00412-009-0233-5
-
Chadwick, B.P. 2009. Macrosatellite epigenetics: the two faces of DXZ4 and D4Z4. Chromosoma. 118:675-681. doi:10.1007/s00412-009-0233-5
-
(2009)
Chromosoma
, vol.118
, pp. 675-681
-
-
Chadwick, B.P.1
-
19
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
doi:10.1093/hmg/3.2.223
-
Chance, P.F., N. Abbas, M.W. Lensch, L. Pentao, B.B. Roa, P.I. Patel, and J.R. Lupski. 1994. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum. Mol. Genet. 3:223-228. doi:10.1093/hmg/3.2.223
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
20
-
-
2642551522
-
Structure and function of eukaryotic DNA methyltransferases
-
doi:10.1016/S0070-2153(04) 60003-2
-
Chen, T., and E. Li. 2004. Structure and function of eukaryotic DNA methyltransferases. Curr. Top. Dev. Biol. 60:55-89. doi:10.1016/S0070-2153(04) 60003-2
-
(2004)
Curr. Top. Dev. Biol.
, vol.60
, pp. 55-89
-
-
Chen, T.1
Li, E.2
-
21
-
-
0034644473
-
Signaling to chromatin through histone modifications
-
doi:10.1016/S0092-8674(00)00118-5
-
Cheung, P., C.D. Allis, and P. Sassone-Corsi. 2000. Signaling to chromatin through histone modifications. Cell. 103:263-271. doi:10.1016/S0092- 8674(00)00118-5
-
(2000)
Cell
, vol.103
, pp. 263-271
-
-
Cheung, P.1
Allis, C.D.2
Sassone-Corsi, P.3
-
22
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Wellcome Trust Case Control Consortium. 10.1038/nature08516
-
Conrad, D.F., D. Pinto, R. Redon, L. Feuk, O. Gokcumen, Y. Zhang, J. Aerts, T.D. Andrews, C. Barnes, P. Campbell, et al; Wellcome Trust Case Control Consortium. 2010. Origins and functional impact of copy number variation in the human genome. Nature. 464:704-712. doi:10.1038/nature08516
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
23
-
-
54049149937
-
Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients
-
doi: 10.1136/jmg.2008.060541
-
Davidovic, L., S. Sacconi, E.G. Bechara, S. Delplace, M. Allegra, C. Desnuelle, and B. Bardoni. 2008. Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. J. Med. Genet. 45:679-685. doi: 10.1136/jmg.2008.060541
-
(2008)
J. Med. Genet.
, vol.45
, pp. 679-685
-
-
Davidovic, L.1
Sacconi, S.2
Bechara, E.G.3
Delplace, S.4
Allegra, M.5
Desnuelle, C.6
Bardoni, B.7
-
24
-
-
70450222400
-
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
-
doi:10.1002/humu.21091
-
de Greef, J.C., R.J. Lemmers, B.G. van Engelen, S. Sacconi, S.L. Venance, R.R. Frants, R. Tawil, and S.M. van der Maarel. 2009. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum. Mutat. 30:1449-1459. doi:10.1002/humu.21091
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1449-1459
-
-
De Greef, J.C.1
Lemmers, R.J.2
Van Engelen, B.G.3
Sacconi, S.4
Venance, S.L.5
Frants, R.R.6
Tawil, R.7
Van Der Maarel, S.M.8
-
25
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
-
Deidda, G., S. Cacurri, N. Piazzo, and L. Felicetti. 1996. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J. Med. Genet. 33:361-365. doi:10.1136/jmg.33.5.361 (Pubitemid 26147865)
-
(1996)
Journal of Medical Genetics
, vol.33
, Issue.5
, pp. 361-365
-
-
Deidda, G.1
Cacurri, S.2
Piazzo, N.3
Felicetti, L.4
-
26
-
-
0037083376
-
Capturing chromosome conformation
-
doi:10.1126/science.1067799
-
Dekker, J., K. Rippe, M. Dekker, and N. Kleckner. 2002. Capturing chromosome conformation. Science. 295:1306-1311. doi:10.1126/science.1067799
-
(2002)
Science
, vol.295
, pp. 1306-1311
-
-
Dekker, J.1
Rippe, K.2
Dekker, M.3
Kleckner, N.4
-
27
-
-
36749026295
-
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
-
doi:10.1073/pnas.0708659104
-
Dixit, M., E. Ansseau, A. Tassin, S. Winokur, R. Shi, H. Qian, S. Sauvage, C. Mattéotti, A.M. van Acker, O. Leo, et al. 2007. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc. Natl. Acad. Sci. USA. 104:18157-18162. doi:10.1073/pnas.0708659104
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 18157-18162
-
-
Dixit, M.1
Ansseau, E.2
Tassin, A.3
Winokur, S.4
Shi, R.5
Qian, H.6
Sauvage, S.7
Mattéotti, C.8
Van Acker, A.M.9
Leo, O.10
-
28
-
-
0028799146
-
Fascins, a family of actin bundling proteins
-
doi:10.1002/cm.970320102
-
Edwards, R.A., and J. Bryan. 1995. Fascins, a family of actin bundling proteins. Cell Motil. Cytoskeleton. 32:1-9. doi:10.1002/cm.970320102
-
(1995)
Cell Motil. Cytoskeleton.
, vol.32
, pp. 1-9
-
-
Edwards, R.A.1
Bryan, J.2
-
29
-
-
0030449563
-
Cardiac involvement in facio-scapulo-humeral muscular dystrophy: A family study using Thallium-201 single-photonemission- Computed tomography
-
doi:10.1016/S0022-510X(96)00145-1
-
Faustmann, P.M., J. Farahati, B. Rupilius, R. Dux, M.C. Koch, and C. Reiners. 1996. Cardiac involvement in facio-scapulo-humeral muscular dystrophy: a family study using Thallium-201 single-photonemission- computed tomography. J. Neurol. Sci. 144:59-63. doi:10.1016/S0022-510X(96)00145-1
-
(1996)
J. Neurol. Sci.
, vol.144
, pp. 59-63
-
-
Faustmann, P.M.1
Farahati, J.2
Rupilius, B.3
Dux, R.4
Koch, M.C.5
Reiners, C.6
-
30
-
-
77956416028
-
Gene positioning
-
doi:10.1101/cshperspect.a000588
-
Ferrai, C., I.J. de Castro, L. Lavitas, M. Chotalia, and A. Pombo. 2010. Gene positioning. Cold Spring Harb Perspect Biol. 2:a000588. doi:10.1101/cshperspect.a000588
-
(2010)
Cold Spring Harb Perspect Biol.
, vol.2
-
-
Ferrai, C.1
De Castro, I.J.2
Lavitas, L.3
Chotalia, M.4
Pombo, A.5
-
31
-
-
35348924169
-
Genetics and epigenetics of the multifunctional protein CTCF
-
doi:10.1016/S0070-2153(07)80009-3
-
Filippova, G.N. 2008. Genetics and epigenetics of the multifunctional protein CTCF. Curr. Top. Dev. Biol. 80:337-360. doi:10.1016/S0070-2153(07)80009- 3
-
(2008)
Curr. Top. Dev. Biol.
, vol.80
, pp. 337-360
-
-
Filippova, G.N.1
-
32
-
-
0023202070
-
Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications
-
doi:10.1093/brain/110.3.631
-
Fitzsimons, R.B., E.B. Gurwin, and A.C. Bird. 1987. Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications. Brain. 110:631-648. doi:10.1093/brain/110.3.631
-
(1987)
Brain
, vol.110
, pp. 631-648
-
-
Fitzsimons, R.B.1
Gurwin, E.B.2
Bird, A.C.3
-
33
-
-
0034882438
-
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
-
doi:10.1016/S0960-8966(01)00201-2
-
Flanigan, K.M., C.M. Coffeen, L. Sexton, D. Stauffer, S. Brunner, and M.F. Leppert. 2001. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul. Disord. 11:525-529. doi:10.1016/S0960-8966(01)00201-2
-
(2001)
Neuromuscul. Disord.
, vol.11
, pp. 525-529
-
-
Flanigan, K.M.1
Coffeen, C.M.2
Sexton, L.3
Stauffer, D.4
Brunner, S.5
Leppert, M.F.6
-
34
-
-
0031777331
-
Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy
-
Funakoshi, M., K. Goto, and K. Arahata. 1998. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology. 50:1791-1794.
-
(1998)
Neurology
, vol.50
, pp. 1791-1794
-
-
Funakoshi, M.1
Goto, K.2
Arahata, K.3
-
35
-
-
0037047439
-
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
doi:10.1016/S0092-8674(02)00826-7
-
Gabellini, D., M.R. Green, and R. Tupler. 2002. Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell. 110:339-348. doi:10.1016/S0092-8674(02)00826-7
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
36
-
-
2542458430
-
When enough is enough: Genetic diseases associated with transcriptional derepression
-
doi:10.1016/j.gde.2004.04.010
-
Gabellini, D., M.R. Green, and R. Tupler. 2004. When enough is enough: genetic diseases associated with transcriptional derepression. Curr. Opin. Genet. Dev. 14:301-307. doi:10.1016/j.gde.2004.04.010
-
(2004)
Curr. Opin. Genet. Dev.
, vol.14
, pp. 301-307
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
37
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini, D., G. D'Antona, M. Moggio, A. Prelle, C. Zecca, R. Adami, B. Angeletti, P. Ciscato, M.A. Pellegrino, R. Bottinelli, et al. 2006. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature. 439:973-977.
-
(2006)
Nature
, vol.439
, pp. 973-977
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
Prelle, A.4
Zecca, C.5
Adami, R.6
Angeletti, B.7
Ciscato, P.8
Pellegrino, M.A.9
Bottinelli, R.10
-
38
-
-
0344436078
-
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element
-
doi:10.1016/S0378-1119(99)00267-X
-
Gabriëls, J., M.C. Beckers, H. Ding, A. De Vriese, S. Plaisance, S.M. van der Maarel, G.W. Padberg, R.R. Frants, J.E. Hewitt, D. Collen, and A. Belayew. 1999. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene. 236:25-32. doi:10.1016/S0378-1119(99)00267-X
-
(1999)
Gene.
, vol.236
, pp. 25-32
-
-
Gabriëls, J.1
Beckers, M.C.2
Ding, H.3
De Vriese, A.4
Plaisance, S.5
Van Der Maarel, S.M.6
Padberg, G.W.7
Frants, R.R.8
Hewitt, J.E.9
Collen, D.10
Belayew, A.11
-
39
-
-
0026865003
-
A novel GC-rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes
-
doi:10.1038/ng0592-137
-
Giacalone, J., J. Friedes, and U. Francke. 1992. A novel GC-rich human macrosatellite VNTR in Xq24 is differentially methylated on active and inactive X chromosomes. Nat. Genet. 1:137-143. doi:10.1038/ng0592-137
-
(1992)
Nat. Genet.
, vol.1
, pp. 137-143
-
-
Giacalone, J.1
Friedes, J.2
Francke, U.3
-
40
-
-
0026643931
-
Linkage studies in facioscapulohumeral muscular dystrophy (FSHD)
-
Gilbert, J.R., J.M. Stajich, M.C. Speer, J.M. Vance, C.S. Stewart, L.H. Yamaoka, F. Samson, M. Fardeau, T.G. Potter, A.D. Roses, et al. 1992. Linkage studies in facioscapulohumeral muscular dystrophy (FSHD). Am. J. Hum. Genet. 51:424-427.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 424-427
-
-
Gilbert, J.R.1
Stajich, J.M.2
Speer, M.C.3
Vance, J.M.4
Stewart, C.S.5
Yamaoka, L.H.6
Samson, F.7
Fardeau, M.8
Potter, T.G.9
Roses, A.D.10
-
41
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
doi:10.1126/science.1101160
-
Gonzalez, E., H. Kulkarni, H. Bolivar, A. Mangano, R. Sanchez, G. Catano, R.J. Nibbs, B.I. Freedman, M.P. Quinones, M.J. Bamshad, et al. 2005. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science. 307:1434-1440. doi:10.1126/science.1101160
-
(2005)
Science
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
Nibbs, R.J.7
Freedman, B.I.8
Quinones, M.P.9
Bamshad, M.J.10
-
42
-
-
0029017568
-
DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: Clinical correlations
-
doi:10.1016/0960-8966(94)00055-E
-
Goto, K., J.H. Lee, C. Matsuda, K. Hirabayashi, T. Kojo, A. Nakamura, Y. Mitsunaga, T. Furukawa, K. Sahashi, and K. Arahata. 1995. DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations. Neuromuscul. Disord. 5:201-208. doi:10.1016/0960-8966(94)00055-E
-
(1995)
Neuromuscul. Disord.
, vol.5
, pp. 201-208
-
-
Goto, K.1
Lee, J.H.2
Matsuda, C.3
Hirabayashi, K.4
Kojo, T.5
Nakamura, A.6
Mitsunaga, Y.7
Furukawa, T.8
Sahashi, K.9
Arahata, K.10
-
43
-
-
0032541318
-
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates
-
doi:10.1016/S0378-1119(98)00334-5
-
Grewal, P.K., L.C. Todd, S. van der Maarel, R.R. Frants, and J.E. Hewitt. 1998. FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates. Gene. 216:13-19. doi:10.1016/S0378-1119(98)00334-5
-
(1998)
Gene.
, vol.216
, pp. 13-19
-
-
Grewal, P.K.1
Todd, L.C.2
Van Der Maarel, S.3
Frants, R.R.4
Hewitt, J.E.5
-
44
-
-
0027429123
-
Genetics of facioscapulohumeral muscular dystrophy: New mutations in sporadic cases
-
Griggs, R.C., R. Tawil, D. Storvick, J.R. Mendell, and M.R. Altherr. 1993. Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology. 43:2369-2372.
-
(1993)
Neurology
, vol.43
, pp. 2369-2372
-
-
Griggs, R.C.1
Tawil, R.2
Storvick, D.3
Mendell, J.R.4
Altherr, M.R.5
-
45
-
-
0028952903
-
Monozygotic twins with facioscapulo-humeral dystrophy (FSHD): Implications for genotype/phenotype correlation
-
FSH-DY Group doi:10.1002/mus.880181311
-
Griggs, R.C., R. Tawil, M. McDermott, J. Forrester, D. Figlewicz, and B. Weiffenbach; FSH-DY Group. 1995. Monozygotic twins with facioscapulo-humeral dystrophy (FSHD): implications for genotype/phenotype correlation. Muscle Nerve. 2:S50-S55. doi:10.1002/mus.880181311
-
(1995)
Muscle Nerve
, vol.2
-
-
Griggs, R.C.1
Tawil, R.2
McDermott, M.3
Forrester, J.4
Figlewicz, D.5
Weiffenbach, B.6
-
46
-
-
62549134411
-
Mechanisms for human genomic rearrangements
-
doi:10.1186/1755-8417-1-4
-
Gu, W., F. Zhang, and J.R. Lupski. 2008. Mechanisms for human genomic rearrangements. Pathogenetics. 1:4. doi:10.1186/1755-8417-1-4
-
(2008)
Pathogenetics
, vol.1
, pp. 4
-
-
Gu, W.1
Zhang, F.2
Lupski, J.R.3
-
47
-
-
45149084413
-
Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions
-
DOI 10.1038/nature06947, PII NATURE06947
-
Guelen, L., L. Pagie, E. Brasset, W. Meuleman, M.B. Faza, W. Talhout, B.H. Eussen, A. de Klein, L. Wessels, W. de Laat, and B. van Steensel. 2008. Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature. 453:948-951. doi:10.1038/nature06947 (Pubitemid 351832561)
-
(2008)
Nature
, vol.453
, Issue.7197
, pp. 948-951
-
-
Guelen, L.1
Pagie, L.2
Brasset, E.3
Meuleman, W.4
Faza, M.B.5
Talhout, W.6
Eussen, B.H.7
De Klein, A.8
Wessels, L.9
De Laat, W.10
Van Steensel, B.11
-
48
-
-
66349093652
-
Muscular dystrophy candidate gene FRG1 is critical for muscle development
-
doi:10.1002/dvdy.21830
-
Hanel, M.L., R.D. Wuebbles, and P.L. Jones. 2009. Muscular dystrophy candidate gene FRG1 is critical for muscle development. Dev. Dyn. 238:1502-1512. doi:10.1002/dvdy.21830
-
(2009)
Dev. Dyn.
, vol.238
, pp. 1502-1512
-
-
Hanel, M.L.1
Wuebbles, R.D.2
Jones, P.L.3
-
49
-
-
78650112672
-
Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein
-
Hanel, M.L., C.Y. Sun, T.I. Jones, S.W. Long, S. Zanotti, D. Milner, and P.L. Jones. 2010. Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein. Differentiation.
-
(2010)
Differentiation
-
-
Hanel, M.L.1
Sun, C.Y.2
Jones, T.I.3
Long, S.W.4
Zanotti, S.5
Milner, D.6
Jones, P.L.7
-
50
-
-
0034713275
-
CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
-
doi:10.1038/35013106
-
Hark, A.T., C.J. Schoenherr, D.J. Katz, R.S. Ingram, J.M. Levorse, and S.M. Tilghman. 2000. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature. 405:486-489. doi:10.1038/35013106
-
(2000)
Nature
, vol.405
, pp. 486-489
-
-
Hark, A.T.1
Schoenherr, C.J.2
Katz, D.J.3
Ingram, R.S.4
Levorse, J.M.5
Tilghman, S.M.6
-
51
-
-
77957264815
-
The nuclear envelope
-
doi:10.1101/cshperspect.a000539
-
Hetzer, M.W. 2010. The nuclear envelope. Cold Spring Harb Perspect Biol. 2:a000539. doi:10.1101/cshperspect.a000539
-
(2010)
Cold Spring Harb Perspect Biol.
, vol.2
-
-
Hetzer, M.W.1
-
52
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
-
doi:10.1093/hmg/3.8.1287
-
Hewitt, J.E., R. Lyle, L.N. Clark, E.M. Valleley, T.J. Wright, C. Wijmenga, J.C. van Deutekom, F. Francis, P.T. Sharpe, M. Hofker, et al. 1994. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 3:1287-1295. doi:10.1093/hmg/3.8.1287
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1287-1295
-
-
Hewitt, J.E.1
Lyle, R.2
Clark, L.N.3
Valleley, E.M.4
Wright, T.J.5
Wijmenga, C.6
Van Deutekom, J.C.7
Francis, F.8
Sharpe, P.T.9
Hofker, M.10
-
53
-
-
75749101495
-
Chromatin remodelling during development
-
doi:10.1038/nature08911
-
Ho, L., and G.R. Crabtree. 2010. Chromatin remodelling during development. Nature. 463:474-484. doi:10.1038/nature08911
-
(2010)
Nature
, vol.463
, pp. 474-484
-
-
Ho, L.1
Crabtree, G.R.2
-
54
-
-
0030949864
-
Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan
-
doi:10.1016/S0022-510X(97)05394-X
-
Hsu, Y.D., M.C. Kao, W.C. Shyu, J.C. Lin, N.E. Huang, H.F. Sun, K.D. Yang, and W.L. Tsao. 1997. Application of chromosome 4q35-qter marker (pFR-1) for DNA rearrangement of facioscapulohumeral muscular dystrophy patients in Taiwan. J. Neurol. Sci. 149:73-79. doi:10.1016/S0022-510X(97)05394-X
-
(1997)
J. Neurol. Sci.
, vol.149
, pp. 73-79
-
-
Hsu, Y.D.1
Kao, M.C.2
Shyu, W.C.3
Lin, J.C.4
Huang, N.E.5
Sun, H.F.6
Yang, K.D.7
Tsao, W.L.8
-
55
-
-
0345227304
-
Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q
-
doi:10.1093/hmg/ddg323
-
Jiang, G., F. Yang, P.G. van Overveld, V. Vedanarayanan, S. van der Maarel, and M. Ehrlich. 2003. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. Hum. Mol. Genet. 12:2909-2921. doi:10.1093/hmg/ddg323
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2909-2921
-
-
Jiang, G.1
Yang, F.2
Van Overveld, P.G.3
Vedanarayanan, V.4
Van Der Maarel, S.5
Ehrlich, M.6
-
56
-
-
0028801374
-
Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy
-
doi:10.1097/00002060-199509001-00007
-
Kilmer, D.D., R.T. Abresch, M.A. McCrory, G.T. Carter, W.M. Fowler Jr., E.R. Johnson, and C.M. McDonald. 1995. Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am. J. Phys. Med. Rehabil. 74:S131-S139. doi:10.1097/00002060-199509001-00007
-
(1995)
Am. J. Phys. Med. Rehabil.
, vol.74
-
-
Kilmer, D.D.1
Abresch, R.T.2
McCrory, M.A.3
Carter, G.T.4
Fowler Jr., W.M.5
Johnson, E.R.6
McDonald, C.M.7
-
57
-
-
0035860551
-
A gene expression map for Caenorhabditis elegans
-
DOI 10.1126/science.1061603
-
Kim, S.K., J. Lund, M. Kiraly, K. Duke, M. Jiang, J.M. Stuart, A. Eizinger, B.N. Wylie, and G.S. Davidson. 2001. A gene expression map for Caenorhabditis elegans. Science. 293:2087-2092. doi:10.1126/science.1061603 (Pubitemid 32848057)
-
(2001)
Science
, vol.293
, Issue.5537
, pp. 2087-2092
-
-
Kim, S.K.1
Lund, J.2
Kiraly, M.3
Duke, K.4
Jiang, M.5
Stuart, J.M.6
Eizinger, A.7
Wylie, B.N.8
Davidson, G.S.9
-
58
-
-
0037322797
-
Methylation-sensitive binding of transcription factor YY1 to an insulator sequence within the paternally expressed imprinted gene, Peg3
-
doi:10.1093/hmg/ddg028
-
Kim, J., A. Kollhoff, A. Bergmann, and L. Stubbs. 2003. Methylation-sensitive binding of transcription factor YY1 to an insulator sequence within the paternally expressed imprinted gene, Peg3. Hum. Mol. Genet. 12:233-245. doi:10.1093/hmg/ddg028
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 233-245
-
-
Kim, J.1
Kollhoff, A.2
Bergmann, A.3
Stubbs, L.4
-
59
-
-
33748573261
-
Severe phenotype in infantile facioscapulohumeral muscular dystrophy
-
doi:10.1016/j.nmd.2006.06.008
-
Klinge, L., M. Eagle, I.D. Haggerty, C.E. Roberts, V. Straub, and K.M. Bushby. 2006. Severe phenotype in infantile facioscapulohumeral muscular dystrophy. Neuromuscul. Disord. 16:553-558. doi:10.1016/j.nmd.2006.06.008
-
(2006)
Neuromuscul. Disord.
, vol.16
, pp. 553-558
-
-
Klinge, L.1
Eagle, M.2
Haggerty, I.D.3
Roberts, C.E.4
Straub, V.5
Bushby, K.M.6
-
60
-
-
70450275779
-
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
-
doi:10.1038/ejhg.2009.62
-
Klooster, R., K. Straasheijm, B. Shah, J. Sowden, R. Frants, C. Thornton, R. Tawil, and S. van der Maarel. 2009. Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level. Eur. J. Hum. Genet. 17:1615-1624. doi:10.1038/ejhg.2009.62
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1615-1624
-
-
Klooster, R.1
Straasheijm, K.2
Shah, B.3
Sowden, J.4
Frants, R.5
Thornton, C.6
Tawil, R.7
Van Der Maarel, S.8
-
61
-
-
57649221599
-
Epigenetic silencing of CCAAT/enhancer-binding protein delta activity by YY1/ polycomb group/DNA methyltransferase complex
-
doi:10.1074/jbc.M804029200
-
Ko, C.Y., H.C. Hsu, M.R. Shen, W.C. Chang, and J.M. Wang. 2008. Epigenetic silencing of CCAAT/enhancer-binding protein delta activity by YY1/ polycomb group/DNA methyltransferase complex. J. Biol. Chem. 283: 30919-30932. doi:10.1074/jbc.M804029200
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 30919-30932
-
-
Ko, C.Y.1
Hsu, H.C.2
Shen, M.R.3
Chang, W.C.4
Wang, J.M.5
-
62
-
-
0031172496
-
A novel tandem repeat sequence located on human chromosome 4p: Isolation and characterization
-
doi:10.1006/geno.1997.4746
-
Kogi, M., S. Fukushige, C. Lefevre, S. Hadano, and J.E. Ikeda. 1997. A novel tandem repeat sequence located on human chromosome 4p: isolation and characterization. Genomics. 42:278-283. doi:10.1006/geno.1997.4746
-
(1997)
Genomics
, vol.42
, pp. 278-283
-
-
Kogi, M.1
Fukushige, S.2
Lefevre, C.3
Hadano, S.4
Ikeda, J.E.5
-
63
-
-
0034162852
-
Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
-
doi:10.1093/hmg/9.4.597
-
Kondo, T., M.P. Bobek, R. Kuick, B. Lamb, X. Zhu, A. Narayan, D. Bourc'his, E. Viegas-Péquignot, M. Ehrlich, and S.M. Hanash. 2000. Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum. Mol. Genet. 9:597-604. doi:10.1093/hmg/9.4.597
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 597-604
-
-
Kondo, T.1
Bobek, M.P.2
Kuick, R.3
Lamb, B.4
Zhu, X.5
Narayan, A.6
Bourc'his, D.7
Viegas-Péquignot, E.8
Ehrlich, M.9
Hanash, S.M.10
-
64
-
-
34447104322
-
The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
-
doi:10.1016/j.nmd.2007.04.002
-
Kowaljow, V., A. Marcowycz, E. Ansseau, C.B. Conde, S. Sauvage, C. Mattéotti, C. Arias, E.D. Corona, N.G. Nuñez, O. Leo, et al. 2007. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul. Disord. 17:611-623. doi:10.1016/j.nmd.2007.04.002
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 611-623
-
-
Kowaljow, V.1
Marcowycz, A.2
Ansseau, E.3
Conde, C.B.4
Sauvage, S.5
Mattéotti, C.6
Arias, C.7
Corona, E.D.8
Nuñez, N.G.9
Leo, O.10
-
65
-
-
52949110245
-
Contribution à ĺtude de la myopathie atrophique progressive myopathie atrophique progressive, à type scapulohuméral
-
Landoyzy, L., and J. Dejerine. 1886. Contribution à ĺtude de la myopathie atrophique progressive (myopathie atrophique progressive, à type scapulohuméral. Comptes Rendus De La Société De Biologie. 38:478-481.
-
(1886)
Comptes Rendus de la Société de Biologie
, vol.38
, pp. 478-481
-
-
Landoyzy, L.1
Dejerine, J.2
-
66
-
-
16844364725
-
Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle
-
doi:10.1007/s00109-004-0583-7
-
Laoudj-Chenivesse, D., G. Carnac, C. Bisbal, G. Hugon, S. Bouillot, C. Desnuelle, Y. Vassetzky, and A. Fernandez. 2005. Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. J. Mol. Med. 83:216-224. doi:10.1007/s00109-004-0583-7
-
(2005)
J. Mol. Med.
, vol.83
, pp. 216-224
-
-
Laoudj-Chenivesse, D.1
Carnac, G.2
Bisbal, C.3
Hugon, G.4
Bouillot, S.5
Desnuelle, C.6
Vassetzky, Y.7
Fernandez, A.8
-
67
-
-
7344231685
-
Inter- And intrachromosomal sub-telomeric rearrangements on 4q35: Implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
-
doi:10.1093/hmg/7.8.1207
-
Lemmers, R.J., S.M. van der Maarel, J.C. van Deutekom, M.J. van der Wielen, G. Deidda, H.G. Dauwerse, J. Hewitt, M. Hofker, E. Bakker, G.W. Padberg, and R.R. Frants. 1998. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum. Mol. Genet. 7:1207-1214. doi:10.1093/hmg/7.8.1207
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1207-1214
-
-
Lemmers, R.J.1
Van Der Maarel, S.M.2
Van Deutekom, J.C.3
Van Der Wielen, M.J.4
Deidda, G.5
Dauwerse, H.G.6
Hewitt, J.7
Hofker, M.8
Bakker, E.9
Padberg, G.W.10
Frants, R.R.11
-
68
-
-
0036788610
-
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
-
doi:10.1038/ng999
-
Lemmers, R.J., P. de Kievit, L. Sandkuijl, G.W. Padberg, G.J. van Ommen, R.R. Frants, and S.M. van der Maarel. 2002. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat. Genet. 32:235-236. doi:10.1038/ng999
-
(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
-
69
-
-
0038458638
-
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: Phenotype, size, and detection
-
Lemmers, R.J., M. Osborn, T. Haaf, M. Rogers, R.R. Frants, G.W. Padberg, D.N. Cooper, S.M. van der Maarel, and M. Upadhyaya. 2003. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology. 61:178-183. (Pubitemid 36875297)
-
(2003)
Neurology
, vol.61
, Issue.2
, pp. 178-183
-
-
Lemmers, R.J.L.F.1
Osborn, M.2
Haaf, T.3
Rogers, M.4
Frants, R.R.5
Padberg, G.W.6
Cooper, D.N.7
Van Der Maarel, S.M.8
Upadhyaya, M.9
-
70
-
-
35348907287
-
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
-
doi:10.1086/521986
-
Lemmers, R.J., M. Wohlgemuth, K.J. van der Gaag, P.J. van der Vliet, C.M. van Teijlingen, P. de Knijff, G.W. Padberg, R.R. Frants, and S.M. van der Maarel. 2007. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 81:884-894. doi:10.1086/521986
-
(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
-
71
-
-
77649231841
-
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution
-
doi:10.1016/j.ajhg.2010.01.035
-
Lemmers, R.J., P.J. van der Vliet, K.J. van der Gaag, S. Zuniga, R.R. Frants, P. de Knijff, and S.M. van der Maarel. 2010a. Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution. Am. J. Hum. Genet. 86:364-377. doi:10.1016/j.ajhg.2010.01.035
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 364-377
-
-
Lemmers, R.J.1
Van Der Vliet, P.J.2
Van Der Gaag, K.J.3
Zuniga, S.4
Frants, R.R.5
De Knijff, P.6
Van Der Maarel, S.M.7
-
72
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
doi:10.1126/science.1189044
-
Lemmers, R.J., P.J. van der Vliet, R. Klooster, S. Sacconi, P. Camaño, J.G. Dauwerse, L. Snider, K.R. Straasheijm, G.J. van Ommen, G.W. Padberg, et al. 2010b. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 329:1650-1653. doi:10.1126/science.1189044
-
(2010)
Science
, vol.329
, pp. 1650-1653
-
-
Lemmers, R.J.1
Van Der Vliet, P.J.2
Klooster, R.3
Sacconi, S.4
Camaño, P.5
Dauwerse, J.G.6
Snider, L.7
Straasheijm, K.R.8
Van Ommen, G.J.9
Padberg, G.W.10
-
73
-
-
0024404078
-
A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed
-
Li, K., C.K. Warner, J.A. Hodge, S. Minoshima, J. Kudoh, R. Fukuyama, M. Maekawa, Y. Shimizu, N. Shimizu, and D.C. Wallace. 1989. A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. J. Biol. Chem. 264:13998-14004.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 13998-14004
-
-
Li, K.1
Warner, C.K.2
Hodge, J.A.3
Minoshima, S.4
Kudoh, J.5
Fukuyama, R.6
Maekawa, M.7
Shimizu, Y.8
Shimizu, N.9
Wallace, D.C.10
-
74
-
-
77951145598
-
Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites
-
doi:10.1242/jcs.058958
-
Liu, Q., T.I. Jones, V.W. Tang, W.M. Brieher, and P.L. Jones. 2010. Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites. J. Cell Sci. 123:1116-1123. doi:10.1242/jcs.058958
-
(2010)
J. Cell Sci.
, vol.123
, pp. 1116-1123
-
-
Liu, Q.1
Jones, T.I.2
Tang, V.W.3
Brieher, W.M.4
Jones, P.L.5
-
75
-
-
0029827128
-
Structure, subnuclear distribution, and nuclear matrix association of the mammalian telomeric complex
-
doi:10.1083/jcb.135.4.867
-
Ludérus, M.E., B. van Steensel, L. Chong, O.C. Sibon, F.F. Cremers, and T. de Lange. 1996. Structure, subnuclear distribution, and nuclear matrix association of the mammalian telomeric complex. J. Cell Biol. 135:867-881. doi:10.1083/jcb.135.4.867
-
(1996)
J. Cell Biol.
, vol.135
, pp. 867-881
-
-
Ludérus, M.E.1
Van Steensel, B.2
Chong, L.3
Sibon, O.C.4
Cremers, F.F.5
De Lange, T.6
-
76
-
-
0029038951
-
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)
-
doi:10.1093/hmg/4.5.951
-
Lunt, P.W., P.E. Jardine, M.C. Koch, J. Maynard, M. Osborn, M. Williams, P.S. Harper, and M. Upadhyaya. 1995. 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). Hum. Mol. Genet. 4:951-958. doi:10.1093/hmg/4.5.951
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 951-958
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.C.3
Maynard, J.4
Osborn, M.5
Williams, M.6
Harper, P.S.7
Upadhyaya, M.8
-
77
-
-
0029113034
-
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
-
doi:10.1006/geno.1995.1166
-
Lyle, R., T.J. Wright, L.N. Clark, and J.E. Hewitt. 1995. 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. Genomics. 28:389-397. doi:10.1006/geno.1995.1166
-
(1995)
Genomics
, vol.28
, pp. 389-397
-
-
Lyle, R.1
Wright, T.J.2
Clark, L.N.3
Hewitt, J.E.4
-
78
-
-
35548971216
-
Making connections: Boundaries and insulators in Drosophila
-
doi:10.1016/j.gde.2007.08.002
-
Maeda, R.K., and F. Karch. 2007. Making connections: boundaries and insulators in Drosophila. Curr. Opin. Genet. Dev. 17:394-399. doi:10.1016/j.gde.2007.08.002
-
(2007)
Curr. Opin. Genet. Dev.
, vol.17
, pp. 394-399
-
-
Maeda, R.K.1
Karch, F.2
-
79
-
-
4544273261
-
Localization of 4q35.2 to the nuclear periphery: Is FSHD a nuclear envelope disease?
-
doi:10.1093/hmg/ddh205
-
Masny, P.S., U. Bengtsson, S.A. Chung, J.H. Martin, B. van Engelen, S.M. van der Maarel, and S.T. Winokur. 2004. Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease? Hum. Mol. Genet. 13:1857-1871. doi:10.1093/hmg/ddh205
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1857-1871
-
-
Masny, P.S.1
Bengtsson, U.2
Chung, S.A.3
Martin, J.H.4
Van Engelen, B.5
Van Der Maarel, S.M.6
Winokur, S.T.7
-
80
-
-
0031670986
-
Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy
-
doi:10.1055/s-2007-973568
-
Miura, K., T. Kumagai, A. Matsumoto, E. Iriyama, K. Watanabe, K. Goto, and K. Arahata. 1998. Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Neuropediatrics. 29:239-241. doi:10.1055/s-2007-973568
-
(1998)
Neuropediatrics
, vol.29
, pp. 239-241
-
-
Miura, K.1
Kumagai, T.2
Matsumoto, A.3
Iriyama, E.4
Watanabe, K.5
Goto, K.6
Arahata, K.7
-
81
-
-
0035130130
-
Telomere associations in interphase nuclei: Possible role in maintenance of interphase chromosome topology
-
Nagele, R.G., A.Q. Velasco, W.J. Anderson, D.J. McMahon, Z. Thomson, J. Fazekas, K. Wind, and H. Lee. 2001. Telomere associations in interphase nuclei: possible role in maintenance of interphase chromosome topology. J. Cell Sci. 114:377-388.
-
(2001)
J. Cell Sci.
, vol.114
, pp. 377-388
-
-
Nagele, R.G.1
Velasco, A.Q.2
Anderson, W.J.3
McMahon, D.J.4
Thomson, Z.5
Fazekas, J.6
Wind, K.7
Lee, H.8
-
82
-
-
77954122499
-
In junk we trust: Repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy
-
doi:10.2217/epi.10.8
-
Neguembor, M.V., and D. Gabellini. 2010. In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy. Epigenomics. 2:271-287. doi:10.2217/epi.10.8
-
(2010)
Epigenomics
, vol.2
, pp. 271-287
-
-
Neguembor, M.V.1
Gabellini, D.2
-
83
-
-
33644853802
-
Histone modifications: Signalling receptors and potential elements of a heritable epigenetic code
-
doi:10.1016/j.gde.2006.02.015
-
Nightingale, K.P., L.P. O'Neill, and B.M. Turner. 2006. Histone modifications: signalling receptors and potential elements of a heritable epigenetic code. Curr. Opin. Genet. Dev. 16:125-136. doi:10.1016/j.gde.2006.02. 015
-
(2006)
Curr. Opin. Genet. Dev.
, vol.16
, pp. 125-136
-
-
Nightingale, K.P.1
O'Neill, L.P.2
Turner, B.M.3
-
84
-
-
33847234593
-
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
-
DOI 10.1212/01.wnl.0000251269.31442.d9, PII 0000611420070220000010
-
Osborne, R.J., S. Welle, S.L. Venance, C.A. Thornton, and R. Tawil. 2007. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology. 68:569-577. doi:10.1212/01.wnl.0000251269.31442. d9 (Pubitemid 46303603)
-
(2007)
Neurology
, vol.68
, Issue.8
, pp. 569-577
-
-
Osborne, R.J.1
Welle, S.2
Venance, S.L.3
Thornton, C.A.4
Tawil, R.5
-
85
-
-
61449143604
-
The D4Z4 macrosatellite repeat acts as a CTCF and a-type lamins-dependent insulator in facio-scapulo-humeral dystrophy
-
doi:10.1371/journal.pgen.1000394
-
Ottaviani, A., S. Rival-Gervier, A. Boussouar, A.M. Foerster, D. Rondier, S. Sacconi, C. Desnuelle, E. Gilson, and F. Magdinier. 2009a. The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy. PLoS Genet. 5:e1000394. doi:10.1371/journal. pgen.1000394
-
(2009)
PLoS Genet.
, vol.5
-
-
Ottaviani, A.1
Rival-Gervier, S.2
Boussouar, A.3
Foerster, A.M.4
Rondier, D.5
Sacconi, S.6
Desnuelle, C.7
Gilson, E.8
Magdinier, F.9
-
86
-
-
69249208461
-
Identification of a perinuclear positioning element in human subtelomeres that requires a-type lamins and CTCF
-
doi:10.1038/emboj.2009.201
-
Ottaviani, A., C. Schluth-Bolard, S. Rival-Gervier, A. Boussouar, D. Rondier, A.M. Foerster, J. Morere, S. Bauwens, S. Gazzo, E. Callet-Bauchu, et al. 2009b. Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF. EMBO J. 28:2428-2436. doi:10.1038/emboj.2009.201
-
(2009)
EMBO J.
, vol.28
, pp. 2428-2436
-
-
Ottaviani, A.1
Schluth-Bolard, C.2
Rival-Gervier, S.3
Boussouar, A.4
Rondier, D.5
Foerster, A.M.6
Morere, J.7
Bauwens, S.8
Gazzo, S.9
Callet-Bauchu, E.10
-
88
-
-
0026335673
-
Diagnostic criteria for facioscapulohumeral muscular dystrophy
-
doi:10.1016/0960-8966(91)90094-9
-
Padberg, G.W., P.W. Lunt, M. Koch, and M. Fardeau. 1991. Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul. Disord. 1:231-234. doi:10.1016/0960-8966(91)90094-9
-
(1991)
Neuromuscul. Disord.
, vol.1
, pp. 231-234
-
-
Padberg, G.W.1
Lunt, P.W.2
Koch, M.3
Fardeau, M.4
-
89
-
-
0028930856
-
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
-
doi:10.1002/mus.880181314
-
Padberg, G.W., O.F. Brouwer, R.J. de Keizer, G. Dijkman, C. Wijmenga, J.J. Grote, and R.R. Frants. 1995. On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2:S73-S80. doi:10.1002/mus.880181314
-
(1995)
Muscle Nerve.
, vol.2
-
-
Padberg, G.W.1
Brouwer, O.F.2
De Keizer, R.J.3
Dijkman, G.4
Wijmenga, C.5
Grote, J.J.6
Frants, R.R.7
-
90
-
-
37549005500
-
Facioscapulohumeral dystrophy
-
doi:10.2522/ptj.20070104
-
Pandya, S., W.M. King, and R. Tawil. 2008. Facioscapulohumeral dystrophy. Phys. Ther. 88:105-113. doi:10.2522/ptj.20070104
-
(2008)
Phys. Ther.
, vol.88
, pp. 105-113
-
-
Pandya, S.1
King, W.M.2
Tawil, R.3
-
91
-
-
33646485687
-
Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts
-
doi:10.1073/pnas.0511235103
-
Petrov, A., I. Pirozhkova, G. Carnac, D. Laoudj, M. Lipinski, and Y.S. Vassetzky. 2006. Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc. Natl. Acad. Sci. USA. 103:6982-6987. doi:10.1073/pnas.0511235103
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 6982-6987
-
-
Petrov, A.1
Pirozhkova, I.2
Carnac, G.3
Laoudj, D.4
Lipinski, M.5
Vassetzky, Y.S.6
-
92
-
-
38049094992
-
A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: Implications for the facio-scapulo-humeral dystrophy
-
doi:10.1101/gr.6620908
-
Petrov, A., J. Allinne, I. Pirozhkova, D. Laoudj, M. Lipinski, and Y.S. Vassetzky. 2008. A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy. Genome Res. 18:39-45. doi:10.1101/gr.6620908
-
(2008)
Genome Res.
, vol.18
, pp. 39-45
-
-
Petrov, A.1
Allinne, J.2
Pirozhkova, I.3
Laoudj, D.4
Lipinski, M.5
Vassetzky, Y.S.6
-
93
-
-
54449097230
-
A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy
-
doi:10.1371/journal.pone.0003389
-
Pirozhkova, I., A. Petrov, P. Dmitriev, D. Laoudj, M. Lipinski, and Y. Vassetzky. 2008. A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. PLoS One. 3:e3389. doi:10.1371/journal.pone.0003389
-
(2008)
PLoS One
, vol.3
-
-
Pirozhkova, I.1
Petrov, A.2
Dmitriev, P.3
Laoudj, D.4
Lipinski, M.5
Vassetzky, Y.6
-
94
-
-
0037224514
-
Large-scale proteomic analysis of the human spliceosome
-
doi:10.1101/gr.473902
-
Rappsilber, J., U. Ryder, A.I. Lamond, and M. Mann. 2002. Large-scale proteomic analysis of the human spliceosome. Genome Res. 12:1231-1245. doi:10.1101/gr.473902
-
(2002)
Genome Res.
, vol.12
, pp. 1231-1245
-
-
Rappsilber, J.1
Ryder, U.2
Lamond, A.I.3
Mann, M.4
-
95
-
-
0032978703
-
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
-
doi:10.1002/1531-8249(199906)45:6〈751:: AID-ANA9〉3.0.CO;2-M
-
Ricci, E., G. Galluzzi, G. Deidda, S. Cacurri, L. Colantoni, B. Merico, N. Piazzo, S. Servidei, E. Vigneti, V. Pasceri, et al. 1999. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann. Neurol. 45:751-757. doi:10.1002/1531-8249(199906)45:6〈751:: AID-ANA9〉3.0.CO;2-M
-
(1999)
Ann. Neurol.
, vol.45
, pp. 751-757
-
-
Ricci, E.1
Galluzzi, G.2
Deidda, G.3
Cacurri, S.4
Colantoni, L.5
Merico, B.6
Piazzo, N.7
Servidei, S.8
Vigneti, E.9
Pasceri, V.10
-
96
-
-
8744240156
-
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
-
doi:10.1136/jmg.2004.019364
-
Rijkers, T., G. Deidda, S. van Koningsbruggen, M. van Geel, R.J. Lemmers, J.C. van Deutekom, D. Figlewicz, J.E. Hewitt, G.W. Padberg, R.R. Frants, and S.M. van der Maarel. 2004. FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J. Med. Genet. 41:826-836. doi:10.1136/jmg.2004.019364
-
(2004)
J. Med. Genet.
, vol.41
, pp. 826-836
-
-
Rijkers, T.1
Deidda, G.2
Van Koningsbruggen, S.3
Van Geel, M.4
Lemmers, R.J.5
Van Deutekom, J.C.6
Figlewicz, D.7
Hewitt, J.E.8
Padberg, G.W.9
Frants, R.R.10
Van Der Maarel, S.M.11
-
97
-
-
33947409919
-
The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
-
doi: 10.1186/1471-2350-8-8
-
Rossi, M., E. Ricci, L. Colantoni, G. Galluzzi, R. Frusciante, P.A. Tonali, and L. Felicetti. 2007. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure. BMC Med. Genet. 8:8. doi: 10.1186/1471-2350-8-8
-
(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
-
98
-
-
36448949026
-
Multivalent engagement of chromatin modifications by linked binding modules
-
doi:10.1038/nrm2298
-
Ruthenburg, A.J., H. Li, D.J. Patel, and C.D. Allis. 2007. Multivalent engagement of chromatin modifications by linked binding modules. Nat. Rev. Mol. Cell Biol. 8:983-994. doi:10.1038/nrm2298
-
(2007)
Nat. Rev. Mol. Cell Biol.
, vol.8
, pp. 983-994
-
-
Ruthenburg, A.J.1
Li, H.2
Patel, D.J.3
Allis, C.D.4
-
99
-
-
33847100503
-
Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
-
DOI 10.1016/j.braindev.2006.08.012, PII S0387760406002014
-
Saito, Y., S. Miyashita, A. Yokoyama, H. Komaki, A. Seki, Y. Maegaki, and K. Ohno. 2007. Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy. Brain Dev. 29:231-233. doi:10.1016/j.braindev.2006.08. 012 (Pubitemid 46283289)
-
(2007)
Brain and Development
, vol.29
, Issue.4
, pp. 231-233
-
-
Saito, Y.1
Miyashita, S.2
Yokoyama, A.3
Komaki, H.4
Seki, A.5
Maegaki, Y.6
Ohno, K.7
-
100
-
-
70349469565
-
Mechanisms of polycomb gene silencing: Knowns and unknowns
-
Simon, J.A., and R.E. Kingston. 2009. Mechanisms of polycomb gene silencing: knowns and unknowns. Nat. Rev. Mol. Cell Biol. 10:697-708.
-
(2009)
Nat. Rev. Mol. Cell Biol.
, vol.10
, pp. 697-708
-
-
Simon, J.A.1
Kingston, R.E.2
-
101
-
-
67249104052
-
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: New candidates for the pathophysiology of facioscapulohumeral dystrophy
-
doi:10.1093/hmg/ddp180
-
Snider, L., A. Asawachaicharn, A.E. Tyler, L.N. Geng, L.M. Petek, L. Maves, D.G. Miller, R.J. Lemmers, S.T. Winokur, R. Tawil, et al. 2009. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum. Mol. Genet. 18:2414-2430. doi:10.1093/hmg/ddp180
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2414-2430
-
-
Snider, L.1
Asawachaicharn, A.2
Tyler, A.E.3
Geng, L.N.4
Petek, L.M.5
Maves, L.6
Miller, D.G.7
Lemmers, R.J.8
Winokur, S.T.9
Tawil, R.10
-
102
-
-
78449250235
-
Facioscapulohumeral dystrophy: Incomplete suppression of a retrotransposed gene
-
doi:10.1371/journal.pgen.1001181
-
Snider, L., L.N. Geng, R.J. Lemmers, M. Kyba, C.B. Ware, A.M. Nelson, R. Tawil, G.N. Filippova, S.M. van der Maarel, S.J. Tapscott, and D.G. Miller. 2010. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 6:e1001181. doi:10.1371/journal.pgen.1001181
-
(2010)
PLoS Genet.
, vol.6
-
-
Snider, L.1
Geng, L.N.2
Lemmers, R.J.3
Kyba, M.4
Ware, C.B.5
Nelson, A.M.6
Tawil, R.7
Filippova, G.N.8
Van Der Maarel, S.M.9
Tapscott, S.J.10
Miller, D.G.11
-
103
-
-
0034851781
-
Nuclear domains
-
Spector, D.L. 2001. Nuclear domains. J. Cell Sci. 114:2891-2893.
-
(2001)
J. Cell Sci.
, vol.114
, pp. 2891-2893
-
-
Spector, D.L.1
-
104
-
-
77949831756
-
Structural variation in the human genome and its role in disease
-
doi:10.1146/annurev-med-100708-204735
-
Stankiewicz, P., and J.R. Lupski. 2010. Structural variation in the human genome and its role in disease. Annu. Rev. Med. 61:437-455. doi:10.1146/annurev-med-100708-204735
-
(2010)
Annu. Rev. Med.
, vol.61
, pp. 437-455
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
105
-
-
33846978695
-
Relative impact of nucleotide and copy number variation on gene expression phenotypes
-
doi:10.1126/science.1136678
-
Stranger, B.E., M.S. Forrest, M. Dunning, C.E. Ingle, C. Beazley, N. Thorne, R. Redon, C.P. Bird, A. de Grassi, C. Lee, et al. 2007. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science. 315:848-853. doi:10.1126/science.1136678
-
(2007)
Science
, vol.315
, pp. 848-853
-
-
Stranger, B.E.1
Forrest, M.S.2
Dunning, M.3
Ingle, C.E.4
Beazley, C.5
Thorne, N.6
Redon, R.7
Bird, C.P.8
De Grassi, A.9
Lee, C.10
-
106
-
-
43749098985
-
DNA methylation landscapes: Provocative insights from epigenomics
-
doi:10.1038/nrg2341
-
Suzuki, M.M., and A. Bird. 2008. DNA methylation landscapes: provocative insights from epigenomics. Nat. Rev. Genet. 9:465-476. doi:10.1038/nrg2341
-
(2008)
Nat. Rev. Genet.
, vol.9
, pp. 465-476
-
-
Suzuki, M.M.1
Bird, A.2
-
107
-
-
7244252921
-
The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres
-
DOI 10.1083/jcb.200403128
-
Tam, R., K.P. Smith, and J.B. Lawrence. 2004. The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J. Cell Biol. 167:269-279. doi:10.1083/jcb.200403128 (Pubitemid 39435070)
-
(2004)
Journal of Cell Biology
, vol.167
, Issue.2
, pp. 269-279
-
-
Tam, R.1
Smith, K.P.2
Lawrence, J.B.3
-
108
-
-
33745715007
-
Facioscapulohumeral muscular dystrophy
-
doi:10.1002/mus.20522
-
Tawil, R., and S.M. Van Der Maarel. 2006. Facioscapulohumeral muscular dystrophy. Muscle Nerve. 34:1-15. doi:10.1002/mus.20522
-
(2006)
Muscle Nerve
, vol.34
, pp. 1-15
-
-
Tawil, R.1
Van Der Maarel, S.M.2
-
109
-
-
0027528536
-
Extreme variability of expression in monozygotic twins with FSH muscular dystrophy
-
Tawil, R., D. Storvick, T.E. Feasby, B. Weiffenbach, and R.C. Griggs. 1993. Extreme variability of expression in monozygotic twins with FSH muscular dystrophy. Neurology. 43:345-348.
-
(1993)
Neurology
, vol.43
, pp. 345-348
-
-
Tawil, R.1
Storvick, D.2
Feasby, T.E.3
Weiffenbach, B.4
Griggs, R.C.5
-
110
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
-
The FSH-DY Group. doi:10.1002/ana.410390610
-
Tawil, R., J. Forrester, R.C. Griggs, J. Mendell, J. Kissel, M. McDermott, W. King, B. Weiffenbach, and D. Figlewicz; The FSH-DY Group. 1996. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann. Neurol. 39:744-748. doi:10.1002/ana.410390610
-
(1996)
Ann. Neurol.
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
Mendell, J.4
Kissel, J.5
McDermott, M.6
King, W.7
Weiffenbach, B.8
Figlewicz, D.9
-
111
-
-
0031915927
-
Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis
-
FSH Consortium. doi:10.1002/ana.410430303
-
Tawil, R., D.A. Figlewicz, R.C. Griggs, and B. Weiffenbach; FSH Consortium. 1998. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. Ann. Neurol. 43:279-282. doi:10.1002/ana.410430303
-
(1998)
Ann. Neurol.
, vol.43
, pp. 279-282
-
-
Tawil, R.1
Figlewicz, D.A.2
Griggs, R.C.3
Weiffenbach, B.4
-
112
-
-
0344687361
-
Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)
-
doi:10.1016/j.nmd.2003.07.001
-
Tonini, M.M., M.R. Passos-Bueno, A. Cerqueira, S.R. Matioli, R. Pavanello, and M. Zatz. 2004. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD). Neuromuscul. Disord. 14:33-38. doi:10.1016/j.nmd.2003.07.001
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 33-38
-
-
Tonini, M.M.1
Passos-Bueno, M.R.2
Cerqueira, A.3
Matioli, S.R.4
Pavanello, R.5
Zatz, M.6
-
113
-
-
33748493420
-
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia
-
doi:10.1159/000094248
-
Trevisan, C.P., E. Pastorello, M. Armani, C. Angelini, G. Nante, G. Tomelleri, P. Tonin, T. Mongini, L. Palmucci, G. Galluzzi, et al. 2006. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur. Neurol. 56:1-5. doi:10.1159/000094248
-
(2006)
Eur. Neurol.
, vol.56
, pp. 1-5
-
-
Trevisan, C.P.1
Pastorello, E.2
Armani, M.3
Angelini, C.4
Nante, G.5
Tomelleri, G.6
Tonin, P.7
Mongini, T.8
Palmucci, L.9
Galluzzi, G.10
-
114
-
-
37249009052
-
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function
-
doi:10.1159/000107431
-
Trevisan, C.P., E. Pastorello, M. Ermani, C. Angelini, G. Tomelleri, P. Tonin, T. Mongini, L. Palmucci, G. Galluzzi, R.G. Tupler, et al. 2008. Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function. Audiol. Neurootol. 13:1-6. doi:10.1159/000107431
-
(2008)
Audiol. Neurootol.
, vol.13
, pp. 1-6
-
-
Trevisan, C.P.1
Pastorello, E.2
Ermani, M.3
Angelini, C.4
Tomelleri, G.5
Tonin, P.6
Mongini, T.7
Palmucci, L.8
Galluzzi, G.9
Tupler, R.G.10
-
115
-
-
42449109111
-
Epigenetics of a tandem DNA repeat: Chromatin DNaseI sensitivity and opposite methylation changes in cancers
-
doi:10.1093/nar/gkn055
-
Tsumagari, K., L. Qi, K. Jackson, C. Shao, M. Lacey, J. Sowden, R. Tawil, V. Vedanarayanan, and M. Ehrlich. 2008. Epigenetics of a tandem DNA repeat: chromatin DNaseI sensitivity and opposite methylation changes in cancers. Nucleic Acids Res. 36:2196-2207. doi:10.1093/nar/gkn055
-
(2008)
Nucleic Acids Res.
, vol.36
, pp. 2196-2207
-
-
Tsumagari, K.1
Qi, L.2
Jackson, K.3
Shao, C.4
Lacey, M.5
Sowden, J.6
Tawil, R.7
Vedanarayanan, V.8
Ehrlich, M.9
-
116
-
-
1642377315
-
Molecular basis of facioscapulohumeral muscular dystrophy
-
doi:10.1007/s00018-003-3285-3
-
Tupler, R., and D. Gabellini. 2004. Molecular basis of facioscapulohumeral muscular dystrophy. Cell. Mol. Life Sci. 61:557-566. doi:10.1007/s00018-003-3285-3
-
(2004)
Cell. Mol. Life Sci.
, vol.61
, pp. 557-566
-
-
Tupler, R.1
Gabellini, D.2
-
117
-
-
0030009384
-
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy
-
doi:10.1136/jmg.33.5.366
-
Tupler, R., A. Berardinelli, L. Barbierato, R. Frants, J.E. Hewitt, G. Lanzi, P. Maraschio, and L. Tiepolo. 1996. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J. Med. Genet. 33:366-370. doi:10.1136/jmg.33.5.366
-
(1996)
J. Med. Genet.
, vol.33
, pp. 366-370
-
-
Tupler, R.1
Berardinelli, A.2
Barbierato, L.3
Frants, R.4
Hewitt, J.E.5
Lanzi, G.6
Maraschio, P.7
Tiepolo, L.8
-
118
-
-
0031847822
-
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression
-
doi:10.1136/jmg.35.9.778
-
Tupler, R., L. Barbierato, M. Memmi, C.A. Sewry, D. De Grandis, P. Maraschio, L. Tiepolo, and A. Ferlini. 1998. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J. Med. Genet. 35:778-783. doi:10.1136/jmg.35.9.778
-
(1998)
J. Med. Genet.
, vol.35
, pp. 778-783
-
-
Tupler, R.1
Barbierato, L.2
Memmi, M.3
Sewry, C.A.4
De Grandis, D.5
Maraschio, P.6
Tiepolo, L.7
Ferlini, A.8
-
119
-
-
0028954920
-
Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)
-
doi:10.1002/mus.880181310
-
Upadhyaya, M., J. Maynard, M. Osborn, P. Jardine, P.S. Harper, and P. Lunt. 1995. Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD). Muscle Nerve. 2:S45-S49. doi:10.1002/mus.880181310
-
(1995)
Muscle Nerve
, vol.2
-
-
Upadhyaya, M.1
Maynard, J.2
Osborn, M.3
Jardine, P.4
Harper, P.S.5
Lunt, P.6
-
120
-
-
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
-
doi:10.1086/302730
-
van der Maarel, S.M., G. Deidda, R.J. Lemmers, P.G. van Overveld, M. van der Wielen, J.E. Hewitt, L. Sandkuijl, B. Bakker, G.J. van Ommen, G.W. Padberg, and R.R. Frants. 2000. 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. 66:26-35. doi:10.1086/302730
-
(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
Frants, R.R.11
-
122
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
doi:10.1093/hmg/2.12.2037
-
van Deutekom, J.C., C. Wijmenga, E.A. van Tienhoven, A.M. Gruter, J.E. Hewitt, G.W. Padberg, G.J. van Ommen, M.H. Hofker, and R.R. Frants. 1993. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum. Mol. Genet. 2:2037-2042. doi:10.1093/hmg/2.12. 2037
-
(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
-
123
-
-
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
-
doi:10.1093/hmg/5.12.1997
-
van Deutekom, J.C., E. Bakker, R.J. Lemmers, M.J. van der Wielen, E. Bik, M.H. Hofker, G.W. Padberg, and R.R. Frants. 1996a. 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. 5:1997-2003. doi:10.1093/hmg/5.12.1997
-
(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
-
124
-
-
9244232833
-
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
-
doi:10.1093/hmg/5.5.581
-
van Deutekom, J.C., R.J. Lemmers, P.K. Grewal, M. van Geel, S. Romberg, H.G. Dauwerse, T.J. Wright, G.W. Padberg, M.H. Hofker, J.E. Hewitt, and R.R. Frants. 1996b. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum. Mol. Genet. 5:581-590. doi:10.1093/hmg/5.5.581
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 581-590
-
-
Van Deutekom, J.C.1
Lemmers, R.J.2
Grewal, P.K.3
Van Geel, M.4
Romberg, S.5
Dauwerse, H.G.6
Wright, T.J.7
Padberg, G.W.8
Hofker, M.H.9
Hewitt, J.E.10
Frants, R.R.11
-
125
-
-
0032862871
-
The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements
-
doi:10.1006/geno.1999.5942
-
van Geel, M., L.J. Heather, R. Lyle, J.E. Hewitt, R.R. Frants, and P.J. de Jong. 1999. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. Genomics. 61:55-65. doi:10.1006/geno.1999.5942
-
(1999)
Genomics
, vol.61
, pp. 55-65
-
-
Van Geel, M.1
Heather, L.J.2
Lyle, R.3
Hewitt, J.E.4
Frants, R.R.5
De Jong, P.J.6
-
126
-
-
0035707952
-
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin
-
doi:10.1006/geno.2002.6690
-
van Geel, M., M.C. Dickson, A.F. Beck, D.J. Bolland, R.R. Frants, S.M. van der Maarel, P.J. de Jong, and J.E. Hewitt. 2002. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics. 79:210-217. doi:10.1006/geno.2002.6690
-
(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
-
127
-
-
2342572330
-
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
-
doi:10.1136/jmg 2003.012781
-
van Koningsbruggen, S., R.W. Dirks, A.M. Mommaas, J.J. Onderwater, G. Deidda, G.W. Padberg, R.R. Frants, and S.M. van der Maarel. 2004. FRG1P is localised in the nucleolus, Cajal bodies, and speckles. J. Med. Genet. 41:e46. doi:10.1136/jmg 2003.012781
-
(2004)
J. Med. Genet.
, vol.41
-
-
Van Koningsbruggen, S.1
Dirks, R.W.2
Mommaas, A.M.3
Onderwater, J.J.4
Deidda, G.5
Padberg, G.W.6
Frants, R.R.7
Van Der Maarel, S.M.8
-
128
-
-
33846589302
-
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing
-
DOI 10.1007/s00412-006-0083-3
-
van Koningsbruggen, S., K.R. Straasheijm, E. Sterrenburg, N. de Graaf, H.G. Dauwerse, R.R. Frants, and S.M. van der Maarel. 2007. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. Chromosoma. 116:53-64. doi:10.1007/s00412-006-0083-3 (Pubitemid 46179022)
-
(2007)
Chromosoma
, vol.116
, Issue.1
, pp. 53-64
-
-
Van Koningsbruggen, S.1
Straasheijm, K.R.2
Sterrenburg, E.3
De Graaf, N.4
Dauwerse, H.G.5
Frants, R.R.6
Van Der Maarel, S.M.7
-
129
-
-
0034703873
-
Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity
-
doi:10.1093/hmg/9.19.2879
-
van Overveld, P.G., R.J. Lemmers, G. Deidda, L. Sandkuijl, G.W. Padberg, R.R. Frants, and S.M. van der Maarel. 2000. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum. Mol. Genet. 9:2879-2884. doi:10.1093/hmg/9.19.2879
-
(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
-
130
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
doi: 10.1038/ng1262
-
van Overveld, P.G., R.J. Lemmers, L.A. Sandkuijl, L. Enthoven, S.T. Winokur, F. Bakels, G.W. Padberg, G.J. van Ommen, R.R. Frants, and S.M. van der Maarel. 2003. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat. Genet. 35:315-317. doi: 10.1038/ng1262
-
(2003)
Nat. Genet.
, vol.35
, pp. 315-317
-
-
Van Overveld, P.G.1
Lemmers, R.J.2
Sandkuijl, L.A.3
Enthoven, L.4
Winokur, S.T.5
Bakels, F.6
Padberg, G.W.7
Van Ommen, G.J.8
Frants, R.R.9
Van Der Maarel, S.M.10
-
131
-
-
57049118443
-
Analysis of the largest tandemly repeated DNA families in the human genome
-
doi:10.1186/1471-2164-9-533
-
Warburton, P.E., D. Hasson, F. Guillem, C. Lescale, X. Jin, and G. Abrusan. 2008. Analysis of the largest tandemly repeated DNA families in the human genome. BMC Genomics. 9:533. doi:10.1186/1471-2164-9-533
-
(2008)
BMC Genomics
, vol.9
, pp. 533
-
-
Warburton, P.E.1
Hasson, D.2
Guillem, F.3
Lescale, C.4
Jin, X.5
Abrusan, G.6
-
132
-
-
0043180471
-
Three-dimensional arrangements of centromeres and telomeres in nuclei of human and murine lymphocytes
-
doi:10.1023/A:1025016828544
-
Weierich, C., A. Brero, S. Stein, J. von Hase, C. Cremer, T. Cremer, and
-
(2003)
Chromosome Res.
, vol.11
, pp. 485-502
-
-
Weierich, C.1
Brero, A.2
Stein, S.3
Von Hase, J.4
Cremer, C.5
Cremer, T.6
Solovei, I.7
-
133
-
-
0027300285
-
Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events
-
doi:10.1038/ng0693-165
-
Weiffenbach, B., J. Dubois, D. Storvick, R. Tawil, S.J. Jacobsen, J. Gilbert, C. Wijmenga, J.R. Mendell, S. Winokur, M.R. Altherr, et al. 1993. Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromsome 4q35 recombination events. Nat. Genet. 4:165-169. doi:10.1038/ng0693- 165
-
(1993)
Nat. Genet.
, vol.4
, pp. 165-169
-
-
Weiffenbach, B.1
Dubois, J.2
Storvick, D.3
Tawil, R.4
Jacobsen, S.J.5
Gilbert, J.6
Wijmenga, C.7
Mendell, J.R.8
Winokur, S.9
Altherr, M.R.10
-
134
-
-
0025160101
-
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
-
DOI 10.1016/0140-6736(90)92148-B
-
Wijmenga, C., R.R. Frants, O.F. Brouwer, P. Moerer, J.L. Weber, and G.W. Padberg. 1990. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 336:651-653. doi:10.1016/0140-6736(90)92148-B (Pubitemid 20288865)
-
(1990)
Lancet
, vol.336
, Issue.8716
, pp. 651-653
-
-
Wijmenga, C.1
Frants, R.R.2
Brouwer, O.F.3
Moerer, P.4
Weber, J.L.5
Padberg, G.W.6
-
135
-
-
0026080958
-
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization
-
doi:10.1016/0888-7543(91)90348-I
-
Wijmenga, C., G.W. Padberg, P. Moerer, J. Wiegant, L. Liem, O.F. Brouwer, E.C. Milner, J.L. Weber, G.B. van Ommen, L.A. Sandkuyl, et al. 1991. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics. 9:570-575. doi:10.1016/0888-7543(91)90348-I
-
(1991)
Genomics
, vol.9
, pp. 570-575
-
-
Wijmenga, C.1
Padberg, G.W.2
Moerer, P.3
Wiegant, J.4
Liem, L.5
Brouwer, O.F.6
Milner, E.C.7
Weber, J.L.8
Van Ommen, G.B.9
Sandkuyl, L.A.10
-
136
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
doi: 10.1038/ng0992-26
-
Wijmenga, C., J.E. Hewitt, L.A. Sandkuijl, L.N. Clark, T.J. Wright, H.G. Dauwerse, A.M. Gruter, M.H. Hofker, P. Moerer, R. Williamson, et al. 1992. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet. 2:26-30. doi: 10.1038/ng0992-26
-
(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
-
137
-
-
0028303398
-
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
-
doi:10.1007/BF01553323
-
Winokur, S.T., U. Bengtsson, J. Feddersen, K.D. Mathews, B. Weiffenbach, H. Bailey, R.P. Markovich, J.C. Murray, J.J. Wasmuth, M.R. Altherr, et al. 1994. 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. Chromosome Res. 2:225-234. doi:10.1007/BF01553323
-
(1994)
Chromosome Res.
, vol.2
, pp. 225-234
-
-
Winokur, S.T.1
Bengtsson, U.2
Feddersen, J.3
Mathews, K.D.4
Weiffenbach, B.5
Bailey, H.6
Markovich, R.P.7
Murray, J.C.8
Wasmuth, J.J.9
Altherr, M.R.10
-
138
-
-
0344875044
-
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation
-
doi:10.1093/hmg/ddg327
-
Winokur, S.T., Y.W. Chen, P.S. Masny, J.H. Martin, J.T. Ehmsen, S.J. Tapscott, S.M. van der Maarel, Y. Hayashi, and K.M. Flanigan. 2003a. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum. Mol. Genet. 12:2895-2907. doi:10.1093/hmg/ddg327
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 2895-2907
-
-
Winokur, S.T.1
Chen, Y.W.2
Masny, P.S.3
Martin, J.H.4
Ehmsen, J.T.5
Tapscott, S.J.6
Van Der Maarel, S.M.7
Hayashi, Y.8
Flanigan, K.M.9
-
139
-
-
0043095483
-
Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress
-
doi:10.1016/S0960-8966(02)00284-5
-
Winokur, S.T., K. Barrett, J.H. Martin, J.R. Forrester, M. Simon, R. Tawil, S.A. Chung, P.S. Masny, and D.A. Figlewicz. 2003b. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscul. Disord. 13:322-333. doi:10.1016/S0960-8966(02) 00284-5
-
(2003)
Neuromuscul. Disord.
, vol.13
, pp. 322-333
-
-
Winokur, S.T.1
Barrett, K.2
Martin, J.H.3
Forrester, J.R.4
Simon, M.5
Tawil, R.6
Chung, S.A.7
Masny, P.S.8
Figlewicz, D.A.9
-
140
-
-
71949101856
-
Loss of YY1 impacts the heterochromatic state and meiotic double-strand breaks during mouse spermatogenesis
-
doi:10.1128/MCB.00679-09
-
Wu, S., Y.C. Hu, H. Liu, and Y. Shi. 2009. Loss of YY1 impacts the heterochromatic state and meiotic double-strand breaks during mouse spermatogenesis. Mol. Cell. Biol. 29:6245-6256. doi:10.1128/MCB.00679-09
-
(2009)
Mol. Cell. Biol.
, vol.29
, pp. 6245-6256
-
-
Wu, S.1
Hu, Y.C.2
Liu, H.3
Shi, Y.4
-
141
-
-
67650314502
-
FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy
-
doi:10.1242/dmm.002261
-
Wuebbles, R.D., M.L. Hanel, and P.L. Jones. 2009. FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. Dis Model Mech. 2:267-274. doi:10.1242/dmm.002261
-
(2009)
Dis Model Mech.
, vol.2
, pp. 267-274
-
-
Wuebbles, R.D.1
Hanel, M.L.2
Jones, P.L.3
-
142
-
-
77955892276
-
Testing the effects of FSHD candidate gene expression in vertebrate muscle development
-
Wuebbles, R.D., S.W. Long, M.L. Hanel, and P.L. Jones. 2010. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Int J Clin Exp Pathol. 3:386-400.
-
(2010)
Int J Clin Exp Pathol.
, vol.3
, pp. 386-400
-
-
Wuebbles, R.D.1
Long, S.W.2
Hanel, M.L.3
Jones, P.L.4
-
143
-
-
0028833769
-
High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
-
Zatz, M., S.K. Marie, M.R. Passos-Bueno, M. Vainzof, S. Campiotto, A. Cerqueira, C. Wijmenga, G. Padberg, and R. Frants. 1995. High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am. J. Hum. Genet. 56:99-105.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 99-105
-
-
Zatz, M.1
Marie, S.K.2
Passos-Bueno, M.R.3
Vainzof, M.4
Campiotto, S.5
Cerqueira, A.6
Wijmenga, C.7
Padberg, G.8
Frants, R.9
-
144
-
-
0032079336
-
The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females
-
doi:10.1002/(SICI)1096-8628(19980501)77:2〈155::AID-AJMG9〉3.0. CO;2-R
-
Zatz, M., S.K. Marie, A. Cerqueira, M. Vainzof, R.C. Pavanello, and M.R. Passos-Bueno. 1998. The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females. Am. J. Med. Genet. 77:155-161. doi:10.1002/(SICI)1096-8628(19980501)77:2〈155::AID- AJMG9〉3.0.CO;2-R
-
(1998)
Am. J. Med. Genet.
, vol.77
, pp. 155-161
-
-
Zatz, M.1
Marie, S.K.2
Cerqueira, A.3
Vainzof, M.4
Pavanello, R.C.5
Passos-Bueno, M.R.6
-
145
-
-
68249088114
-
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
-
doi:10.1371/journal.pgen.1000559
-
Zeng, W., J.C. de Greef, Y.Y. Chen, R. Chien, X. Kong, H.C. Gregson, S.T. Winokur, A. Pyle, K.D. Robertson, J.A. Schmiesing, et al. 2009. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet. 5:e1000559. doi:10.1371/journal.pgen.1000559
-
(2009)
PLoS Genet.
, vol.5
-
-
Zeng, W.1
De Greef, J.C.2
Chen, Y.Y.3
Chien, R.4
Kong, X.5
Gregson, H.C.6
Winokur, S.T.7
Pyle, A.8
Robertson, K.D.9
Schmiesing, J.A.10
|