-
1
-
-
0004164234
-
-
Dissertatie. Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
-
Padberg GWAM. LUMC: Facioscapulohumeral disease. Dissertatie. Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University, 1982
-
(1982)
LUMC: Facioscapulohumeral disease
-
-
Padberg, G.W.A.M.1
-
2
-
-
33745715007
-
Facioscapulohumeral muscular dystrophy
-
Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 2006;34:1-15
-
(2006)
Muscle Nerve
, vol.34
, pp. 1-15
-
-
Tawil, R.1
Van Der Maarel, S.M.2
-
3
-
-
84915829052
-
Population-based incidence and prevalence of facioscapulohumeral dystrophy
-
Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 2014;83:1056-9
-
(2014)
Neurology
, vol.83
, pp. 1056-1059
-
-
Deenen, J.C.1
Arnts, H.2
van der Maarel, S.M.3
Padberg, G.W.4
Verschuuren, J.J.5
Bakker, E.6
Weinreich, S.S.7
Verbeek, A.L.8
van Engelen, B.G.9
-
4
-
-
84870516109
-
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
-
Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 2012;44:1370-4
-
(2012)
Nat Genet
, vol.44
, pp. 1370-1374
-
-
Lemmers, R.J.1
Tawil, R.2
Petek, L.M.3
Balog, J.4
Block, G.J.5
Santen, G.W.6
Amell, A.M.7
van der Vliet, P.J.8
Almomani, R.9
Straasheijm, K.R.10
Krom, Y.D.11
Klooster, R.12
Sun, Y.13
den Dunnen, J.T.14
Helmer, Q.15
Donlin-Smith, C.M.16
Padberg, G.W.17
van Engelen, B.G.18
de Greef, J.C.19
Aartsma-Rus, A.M.20
Frants, R.R.21
de Visser, M.22
Desnuelle, C.23
Sacconi, S.24
Filippova, G.N.25
Bakker, B.26
Bamshad, M.J.27
Tapscott, S.J.28
Miller, D.G.29
van der Maarel, S.M.30
more..
-
5
-
-
80052443371
-
Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions
-
Statland JM, Tawil R. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol 2011;24:423-8
-
(2011)
Curr Opin Neurol
, vol.24
, pp. 423-428
-
-
Statland, J.M.1
Tawil, R.2
-
6
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
-
Deidda G, Cacurri S, Piazzo N, Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996;33:361-5
-
(1996)
J Med Genet
, vol.33
, pp. 361-365
-
-
Deidda, G.1
Cacurri, S.2
Piazzo, N.3
Felicetti, L.4
-
7
-
-
0035194812
-
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis
-
Lemmers RJL, de Kievit P, van Geel M, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 2001;50:816-19
-
(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
-
8
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuij LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, 2, Hofker MH, Moerer P, Williamson R, van Ommen GJ, Padberg GW, Frants RR. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 1992;2:26-30
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuij, 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
van Ommen, G.J.11
Padberg, G.W.12
Frants, R.R.13
-
9
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993;2:2037-42
-
(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
-
10
-
-
67249104052
-
RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy
-
Snider L, Asawachaicharn A, Tyler AE, Geng LN, Petek LM, Maves L, Miller DG, Lemmers RJ, Winokur ST, Tawil R, van der Maarel SM, Filippova GN, Tapscott SJ. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet 2009;18:2414-30
-
(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
van der Maarel, S.M.11
Filippova, G.N.12
Tapscott, S.J.13
-
11
-
-
77957327192
-
A unifying genetic model for facioscapulohumeral muscular dystrophy
-
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 2010;329:1650-3
-
(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
Miller, D.G.11
Tapscott, S.J.12
Tawil, R.13
Frants, R.R.14
van der Maarel, S.M.15
-
12
-
-
0030009384
-
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy
-
Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt JE, Lanzi G, Maraschio P, Tiepolo L. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. J Med Genet 1996;33:366-70
-
(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
-
13
-
-
68249088114
-
Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)
-
Zeng W, de Greef JC, Chen YY, Chien R, Kong X, Gregson HC, Winokur ST, Pyle A, Robertson KD, Schmiesing JA, Kimonis VE, Balog J, Frants RR, Ball AR Jr, Lock LF, Donovan PJ, van der Maarel SM, Yokomori K. Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). PLoS Genet 2009;5:e1000559
-
(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
Kimonis, V.E.11
Balog, J.12
Frants, R.R.13
Ball, A.R.14
Lock, L.F.15
Donovan, P.J.16
van der Maarel, S.M.17
Yokomori, K.18
-
14
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
van Overveld PG, Lemmers RJ, Sandkuijl LA, Enthoven L, Winokur ST, Bakels F, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet 2003;35:315-7
-
(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
-
15
-
-
34548392207
-
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD
-
de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM. Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. Neurology 2007;69:1018-26
-
(2007)
Neurology
, vol.69
, pp. 1018-1026
-
-
de Greef, J.C.1
Wohlgemuth, M.2
Chan, O.A.3
Hansson, K.B.4
Smeets, D.5
Frants, R.R.6
Weemaes, C.M.7
Padberg, G.W.8
van der Maarel, S.M.9
-
16
-
-
70450222400
-
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
-
de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, Tawil R, van der Maarel SM. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat 2009;30:1449-59
-
(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
-
17
-
-
84983048296
-
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy
-
Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP Jr, Miller JB, Wagner KR, Jones PL. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy. Clin Epigenetics 2015;7:37
-
(2015)
Clin Epigenetics
, vol.7
, pp. 37
-
-
Jones, T.I.1
King, O.D.2
Himeda, C.L.3
Homma, S.4
Chen, J.C.5
Beermann, M.L.6
Yan, C.7
Emerson, C.P.8
Miller, J.B.9
Wagner, K.R.10
Jones, P.L.11
-
18
-
-
84873615972
-
A focal domain of extreme demethylation within D4Z4 in FSHD2
-
Hartweck LM, Anderson LJ, Lemmers RJ, Dandapat A, Toso EA, Dalton JC, Tawil R, Day JW, van der Maarel SM, Kyba M. A focal domain of extreme demethylation within D4Z4 in FSHD2. Neurology 2013;80:392-9
-
(2013)
Neurology
, vol.80
, pp. 392-399
-
-
Hartweck, L.M.1
Anderson, L.J.2
Lemmers, R.J.3
Dandapat, A.4
Toso, E.A.5
Dalton, J.C.6
Tawil, R.7
Day, J.W.8
van der Maarel, S.M.9
Kyba, M.10
-
19
-
-
84920609072
-
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers
-
Gaillard MC, Roche S, Dion C, Tasmadjian A, Bouget G, Salort-Campana E, Vovan C, Chaix C, Broucqsault N, Morere J, Puppo F, Bartoli M, Levy N, Bernard R, Attarian S, Nguyen K, Magdinier F. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology 2014;83:733-42
-
(2014)
Neurology
, vol.83
, pp. 733-742
-
-
Gaillard, M.C.1
Roche, S.2
Dion, C.3
Tasmadjian, A.4
Bouget, G.5
Salort-Campana, E.6
Vovan, C.7
Chaix, C.8
Broucqsault, N.9
Morere, J.10
Puppo, F.11
Bartoli, M.12
Levy, N.13
Bernard, R.14
Attarian, S.15
Nguyen, K.16
Magdinier, F.17
-
20
-
-
78149236255
-
Clinical features of facioscapulohumeral muscular dystrophy 2
-
de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM, Tawil R. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010;75:1548-54
-
(2010)
Neurology
, vol.75
, pp. 1548-1554
-
-
de Greef, J.C.1
Lemmers, R.J.2
Camaño, P.3
Day, J.W.4
Sacconi, S.5
Dunand, M.6
van Engelen, B.G.7
Kiuru-Enari, S.8
Padberg, G.W.9
Rosa, A.L.10
Desnuelle, C.11
Spuler, S.12
Tarnopolsky, M.13
Venance, S.L.14
Frants, R.R.15
van der Maarel, S.M.16
Tawil, R.17
-
21
-
-
84929270500
-
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
-
Larsen M, Rost S, El Hajj N, Ferbert A, Deschauer M, Walter MC, Schoser B, Tacik P, Kress W, Muller CR. Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1. Eur J Hum Genet 2015;23:808-16
-
(2015)
Eur J Hum Genet
, vol.23
, pp. 808-816
-
-
Larsen, M.1
Rost, S.2
El Hajj, N.3
Ferbert, A.4
Deschauer, M.5
Walter, M.C.6
Schoser, B.7
Tacik, P.8
Kress, W.9
Muller, C.R.10
-
22
-
-
35348907287
-
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy
-
Lemmers RJ, Wohlgemuth M, van der Gaag KJ, van der Vliet PJ, van Teijlingen CM, de KnijffP, Padberg GW, Frants RR, van der Maarel SM. Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy. Am J Hum Genet 2007;81:884-894
-
(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
-
23
-
-
77649231841
-
Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution
-
Lemmers RJ, van der Vliet PJ, van der Gaag KJ, Zuniga S, Frants RR, de KnijffP, van der Maarel SM. Worldwide population analysis of the 4q and 10q subtelomeres identifies only four discrete interchromosomal sequence transfers in human evolution. Am J Hum Genet 2010;86:364-77
-
(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
-
24
-
-
84856002086
-
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
-
Sacconi S, Camaño P, de Greef JC, Lemmers RJ, Salviati L, Boileau P, Lopez de Munain Arregui A, van der Maarel SM, Desnuelle C. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J Med Genet 2012;49:41-6
-
(2012)
J Med Genet
, vol.49
, pp. 41-46
-
-
Sacconi, S.1
Camaño, P.2
de Greef, J.C.3
Lemmers, R.J.4
Salviati, L.5
Boileau, P.6
Lopez de Munain Arregui, A.7
van der Maarel, S.M.8
Desnuelle, C.9
-
25
-
-
84983079795
-
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
-
Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD, Jones PL. Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing. Clin Epigenetics 2014;6:23
-
(2014)
Clin Epigenetics
, vol.6
, pp. 23
-
-
Jones, T.I.1
Yan, C.2
Sapp, P.C.3
McKenna-Yasek, D.4
Kang, P.B.5
Quinn, C.6
Salameh, J.S.7
King, O.D.8
Jones, P.L.9
-
26
-
-
84922475653
-
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
-
Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B, van der Maarel SM. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2. Hum Mol Genet 2015;24:659-69
-
(2015)
Hum Mol Genet
, vol.24
, pp. 659-669
-
-
Lemmers, R.J.1
Goeman, J.J.2
van der Vliet, P.J.3
van Nieuwenhuizen, M.P.4
Balog, J.5
Vos-Versteeg, M.6
Camano, P.7
Ramos Arroyo, M.A.8
Jerico, I.9
Rogers, M.T.10
Miller, D.G.11
Upadhyaya, M.12
Verschuuren, J.J.13
Lopez de Munain Arregui, A.14
van Engelen, B.G.15
Padberg, G.W.16
Sacconi, S.17
Tawil, R.18
Tapscott, S.J.19
Bakker, B.20
van der Maarel, S.M.21
more..
-
27
-
-
0036856355
-
MethPrimer: designing primers for methylation PCRs
-
Li LC, Dahiya R. MethPrimer: designing primers for methylation PCRs. Bioinformatics 2002;18:1427-31
-
(2002)
Bioinformatics
, vol.18
, pp. 1427-1431
-
-
Li, L.C.1
Dahiya, R.2
-
28
-
-
25444435141
-
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy
-
van Overveld PG, Enthoven L, Ricci E, Rossi M, Felicetti L, Jeanpierre M, Winokur ST, Frants RR, Padberg GW, van der Maarel SM. Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy. Ann Neurol 2005;58: 569-76
-
(2005)
Ann Neurol
, vol.58
, pp. 569-576
-
-
van Overveld, P.G.1
Enthoven, L.2
Ricci, E.3
Rossi, M.4
Felicetti, L.5
Jeanpierre, M.6
Winokur, S.T.7
Frants, R.R.8
Padberg, G.W.9
van der Maarel, S.M.10
|