-
1
-
-
2942705826
-
Chromatin acetylation, memory, and LTP are impaired in CBP+/2 mice: A model for the cognitive deficit in Rubinstein– Taybi syndrome and its amelioration
-
Alarcon JM, Malleret G, Touzani K, Vronskaya S, Ishii S, Kandel ER, Barco A. 2004. Chromatin acetylation, memory, and LTP are impaired in CBP+/2 mice: A model for the cognitive deficit in Rubinstein– Taybi syndrome and its amelioration. Neuron 42: 947–959.
-
(2004)
Neuron
, vol.42
, pp. 947-959
-
-
Alarcon, J.M.1
Malleret, G.2
Touzani, K.3
Vronskaya, S.4
Ishii, S.5
Kandel, E.R.6
Barco, A.7
-
4
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185–188.
-
(1999)
Nat Genet
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van Den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
5
-
-
20344385787
-
Epigenetic transgenerational actions of endocrine disruptors and male fertility
-
Anway MD, Cupp AS, Uzumcu M, Skinner MK. 2005. Epigenetic transgenerational actions of endocrine disruptors and male fertility. Science 308: 1466–1469.
-
(2005)
Science
, vol.308
, pp. 1466-1469
-
-
Anway, M.D.1
Cupp, A.S.2
Uzumcu, M.3
Skinner, M.K.4
-
7
-
-
0035943709
-
Dnmt3a and Dnmt3b are transcriptional repressors that exhibit unique localization properties to heterochromatin
-
Bachman KE, Rountree MR, Baylin SB. 2001. Dnmt3a and Dnmt3b are transcriptional repressors that exhibit unique localization properties to heterochromatin. J Biol Chem 276: 32282–32287.
-
(2001)
J Biol Chem
, vol.276
, pp. 32282-32287
-
-
Bachman, K.E.1
Rountree, M.R.2
Baylin, S.B.3
-
8
-
-
60749102039
-
Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
-
Ballas N, Lioy DT, Grunseich C, Mandel G. 2009. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci 12: 311–317.
-
(2009)
Nat Neurosci
, vol.12
, pp. 311-317
-
-
Ballas, N.1
Lioy, D.T.2
Grunseich, C.3
Mandel, G.4
-
9
-
-
77957686153
-
SMARCAL1 and replication stress: An explanation for SIOD?
-
Bansbach CE, Boerkoel CF, Cortez D. 2010. SMARCAL1 and replication stress: An explanation for SIOD? Nucleus 1: 245–248.
-
(2010)
Nucleus
, vol.1
, pp. 245-248
-
-
Bansbach, C.E.1
Boerkoel, C.F.2
Cortez, D.3
-
11
-
-
9144266313
-
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
-
Bastepe M, Frohlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, et al. 2003. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 112: 1255–1263.
-
(2003)
J Clin Invest
, vol.112
, pp. 1255-1263
-
-
Bastepe, M.1
Frohlich, L.F.2
Hendy, G.N.3
Indridason, O.S.4
Josse, R.G.5
Koshiyama, H.6
Korkko, J.7
Nakamoto, J.M.8
Rosenbloom, A.L.9
Slyper, A.H.10
-
14
-
-
14944359718
-
The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis
-
Berube NG, Mangelsdorf M, Jagla M, Vanderluit J, Garrick D, Gibbons RJ, Higgs DR, Slack RS, Picketts DJ. 2005. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest 115: 258–267.
-
(2005)
J Clin Invest
, vol.115
, pp. 258-267
-
-
Berube, N.G.1
Mangelsdorf, M.2
Jagla, M.3
Vanderluit, J.4
Garrick, D.5
Gibbons, R.J.6
Higgs, D.R.7
Slack, R.S.8
Picketts, D.J.9
-
15
-
-
0141994824
-
Perturbations of chromatin structure in human genetic disease: Recent advances
-
Bickmore WA, van der Maarel SM. 2003. Perturbations of chromatin structure in human genetic disease: Recent advances. Hum Mol Genet 12: R207–R213.
-
(2003)
Hum Mol Genet
, vol.12
, pp. R207-R213
-
-
Bickmore, W.A.1
Van Der Maarel, S.M.2
-
16
-
-
84881476916
-
Vitamin C induces Tet-dependent DNA demethylation and a blastocyst-like state in ES cells
-
Blaschke K, Ebata KT, Karimi MM, Zepeda Martínez JA, Goyal P, Mahapatra S, Tam A, Laird DJ, Hirst M, Rao A, et al. 2013. Vitamin C induces Tet-dependent DNA demethylation and a blastocyst-like state in ES cells. Nature 500: 222–226.
-
(2013)
Nature
, vol.500
, pp. 222-226
-
-
Blaschke, K.1
Ebata, K.T.2
Karimi, M.M.3
Zepeda Martínez, J.A.4
Goyal, P.5
Mahapatra, S.6
Tam, A.7
Laird, D.J.8
Hirst, M.9
Rao, A.10
-
17
-
-
69149087644
-
Remodeling of the chromatin structure of the facioscapulahumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation
-
Bodega I, Ramirez GD, Grasser F, Cheli S, Brunelli S, Mora M, Meneveri R, Marozzi A, Mueller S, Battaglioli E, Ginelli E. 2009. Remodeling of the chromatin structure of the facioscapulahumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol 7: 41.
-
(2009)
BMC Biol
, vol.7
-
-
Bodega, I.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
-
18
-
-
18544381908
-
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immunoosseous dysplasia
-
Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, Andre JL, Bogdanovic R, Burguet A, Cockfield S, et al. 2002. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immunoosseous dysplasia. Nat Genet 30: 215–220.
-
(2002)
Nat Genet
, vol.30
, pp. 215-220
-
-
Boerkoel, C.F.1
Takashima, H.2
John, J.3
Yan, J.4
Stankiewicz, P.5
Rosenbarker, L.6
Re, J.L.7
Bogdanovic, R.8
Burguet, A.9
Cockfield, S.10
-
19
-
-
0028102526
-
The clinical potential of ademetionine (S-adenosylmethionine) in neurological disorders
-
Bottiglieri T, Hyland K, Reynolds EH. 1994. The clinical potential of ademetionine (S-adenosylmethionine) in neurological disorders. Drugs 48: 137–152.
-
(1994)
Drugs
, vol.48
, pp. 137-152
-
-
Bottiglieri, T.1
Hyland, K.2
Reynolds, E.H.3
-
21
-
-
78650148935
-
The cell biology of disease: FSHD: Copy number variations on the theme of muscular dystrophy
-
Cabianca DS, Gabellini D. 2010. The cell biology of disease: FSHD: Copy number variations on the theme of muscular dystrophy. J Cell Biol 191: 1049–1060.
-
(2010)
J Cell Biol
, vol.191
, pp. 1049-1060
-
-
Cabianca, D.S.1
Gabellini, D.2
-
22
-
-
84860885909
-
A long ncRNA links copy number variation to a polycomb/ trithorax epigenetic switch in FSHD muscular dystrophy.
-
Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, Tanaka Y, Gabellini D. 2012. A long ncRNA links copy number variation to a polycomb/ trithorax epigenetic switch in FSHD muscular dystrophy. Cell 149: 819–831.
-
(2012)
Cell
, vol.149
, pp. 819-831
-
-
Cabianca, D.S.1
Casa, V.2
Bodega, B.3
Xynos, A.4
Ginelli, E.5
Tanaka, Y.6
Gabellini, D.7
-
24
-
-
0038626842
-
Identification of MeCP2 mutations in a series of females with autistic disorder
-
Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA. 2003. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 28: 205–211.
-
(2003)
Pediatr Neurol
, vol.28
, pp. 205-211
-
-
Carney, R.M.1
Wolpert, C.M.2
Ravan, S.A.3
Shahbazian, M.4
Ashley-Koch, A.5
Cuccaro, M.L.6
Vance, J.M.7
Pericak-Vance, M.A.8
-
25
-
-
84876116910
-
A repetitive elements perspective in Polycomb epigenetics
-
Casa V, Gabellini D. 2012. A repetitive elements perspective in Polycomb epigenetics. Front Genet 3: 199.
-
(2012)
Front Genet
, vol.3
-
-
Casa, V.1
Gabellini, D.2
-
26
-
-
0033377772
-
Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith–Wiedemann syndrome
-
Caspary T, Cleary MA, Perlman EJ, Zhang P, Elledge SJ, Tilghman SM. 1999. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith–Wiedemann syndrome. Genes Dev 13: 3115–3124.
-
(1999)
Genes Dev
, vol.13
, pp. 3115-3124
-
-
Caspary, T.1
Cleary, M.A.2
Perlman, E.J.3
Zhang, P.4
Elledge, S.J.5
Tilghman, S.M.6
-
27
-
-
45849105557
-
MeCP2, a key contributor to neurological disease, activates and represses transcription
-
Chahrour M, Yung SY, Shaw C, Zhou X, Wong STC, Qin J, Zoghbi HY. 2008. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320: 1224–1229.
-
(2008)
Science
, vol.320
, pp. 1224-1229
-
-
Chahrour, M.1
Yung, S.Y.2
Shaw, C.3
Zhou, X.4
Wong, S.5
Qin, J.6
Zoghbi, H.Y.7
-
28
-
-
78149431869
-
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
-
Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, et al. 2010. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468: 263–269.
-
(2010)
Nature
, vol.468
, pp. 263-269
-
-
Chao, H.T.1
Chen, H.2
Samaco, R.C.3
Xue, M.4
Chahrour, M.5
Yoo, J.6
Neul, J.L.7
Gong, S.8
Lu, H.C.9
Heintz, N.10
-
29
-
-
84883183357
-
The chromatin remodeller ATRX: A repeat offender in human disease
-
Clynes D, Higgs DR, Gibbons RJ. 2013. The chromatin remodeller ATRX: A repeat offender in human disease. Trends Biochem Sci 38: 461–466.
-
(2013)
Trends Biochem Sci
, vol.38
, pp. 461-466
-
-
Clynes, D.1
Higgs, D.R.2
Gibbons, R.J.3
-
30
-
-
0036782129
-
Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile X syndrome
-
Coffee B, Zhang F, Ceman S, Warren ST, Reines D. 2002. Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile X syndrome. Am J Hum Genet 71: 923–932.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 923-932
-
-
Coffee, B.1
Zhang, F.2
Ceman, S.3
Warren, S.T.4
Reines, D.5
-
31
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, Sweatt JD, Zoghbi HY. 2004. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet 13: 2676–2689.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2676-2689
-
-
Collins, A.L.1
Levenson, J.M.2
Vilaythong, A.P.3
Richman, R.4
Armstrong, D.L.5
Noebels, J.L.6
Sweatt, J.D.7
Zoghbi, H.Y.8
-
32
-
-
0027458127
-
Are somatic cells inherently deficient in methylation metabolism? A proposed mechanism for DNA methylation loss, senescence and aging
-
Cooney CA. 1993. Are somatic cells inherently deficient in methylation metabolism? A proposed mechanism for DNA methylation loss, senescence and aging. Growth Dev Aging 57: 261–273.
-
(1993)
Growth Dev Aging
, vol.57
, pp. 261-273
-
-
Cooney, C.A.1
-
33
-
-
27244436752
-
Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome
-
Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, et al. 2005. Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome. Eur J Hum Genet 13: 1025–1032.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1025-1032
-
-
Cooper, W.N.1
Luharia, A.2
Evans, G.A.3
Raza, H.4
Haire, A.C.5
Grundy, R.6
Bowdin, S.C.7
Riccio, A.8
Sebastio, G.9
Bliek, J.10
-
34
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andres C, Le Fevre AC, Souville I, et al. 2001. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 10: 941–946.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 941-946
-
-
Couvert, P.1
Bienvenu, T.2
Aquaviva, C.3
Poirier, K.4
Moraine, C.5
Gendrot, C.6
Verloes, A.7
Res, C.8
Le Fevre, A.C.9
Souville, I.10
-
35
-
-
84857688381
-
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.
-
Crepin M, Dieu MC, Lejeune S, Escande F, Boidin D, Porchet N, Morin G, Manouvrier S, Mathieu M, Buisine MP. 2012. Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Hum Mutat 33: 180–188.
-
(2012)
Hum Mutat
, vol.33
, pp. 180-188
-
-
Crepin, M.1
Dieu, M.C.2
Lejeune, S.3
Escande, F.4
Boidin, D.5
Porchet, N.6
Morin, G.7
Manouvrier, S.8
Mathieu, M.9
Buisine, M.P.10
-
36
-
-
0022351149
-
A distant gene deletion affects b-globin gene function in an atypical g db-thalassemia
-
Curtin P, Pirastu M, Kan YW, Gobert-Jones JA, Stephens AD, Lehmann H. 1985. A distant gene deletion affects b-globin gene function in an atypical g db-thalassemia. J Clin Invest 76: 1554–1558.
-
(1985)
J Clin Invest
, vol.76
, pp. 1554-1558
-
-
Curtin, P.1
Pirastu, M.2
Kan, Y.W.3
Gobert-Jones, J.A.4
Stephens, A.D.5
Lehmann, H.6
-
37
-
-
0037222510
-
Association of in vitro fertilization with Beckwith–Wiedemann syndrome and epigenetic alterations of LIT1 and H19
-
DeBaun MR, Niemitz EL, Feinberg AP. 2003. Association of in vitro fertilization with Beckwith–Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 72: 156–160.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 156-160
-
-
Debaun, M.R.1
Niemitz, E.L.2
Feinberg, A.P.3
-
38
-
-
79958846467
-
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2
-
de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, et al. 2011.Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. Am J Hum Genet 88: 796–804.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 796-804
-
-
De Greef, J.C.1
Wang, J.2
Balog, J.3
Den Dunnen, J.T.4
Frants, R.R.5
Straasheijm, K.R.6
Aytekin, C.7
Van Der Burg, M.8
Duprez, L.9
Ferster, A.10
-
41
-
-
84859454582
-
Wild-type microglia arrest pathology in a mouse model of Rett syndrome
-
Derecki NC, Cronk JC, Lu Z, Xu E, Abbott SB, Guyenet PG, Kipnis J. 2012. Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature 484: 105–109.
-
(2012)
Nature
, vol.484
, pp. 105-109
-
-
Derecki, N.C.1
Cronk, J.C.2
Lu, Z.3
Xu, E.4
Abbott, S.B.5
Guyenet, P.G.6
Kipnis, J.7
-
42
-
-
0012953756
-
G d b-thalassemia due to a de novo mutation deleting the 5′ b-globin gene activation-region hypersensitive sites
-
Driscoll MC, Dobkin CS, Alter BP. 1989. g d b-thalassemia due to a de novo mutation deleting the 5′ b-globin gene activation-region hypersensitive sites. Proc Natl Acad Sci 86: 7470–7474.
-
(1989)
Proc Natl Acad Sci
, vol.86
, pp. 7470-7474
-
-
Driscoll, M.C.1
Dobkin, C.S.2
Alter, B.P.3
-
43
-
-
84873407254
-
A review of outcome data concerning children born following assisted reproductive technologies
-
Dupont C, Sifer C. 2012. A review of outcome data concerning children born following assisted reproductive technologies. ISRN Obstet Gynecol 2012: 405382.
-
(2012)
ISRN Obstet Gynecol
, vol.2012
-
-
Dupont, C.1
Sifer, C.2
-
44
-
-
79960515067
-
Metabolic imprinting by prenatal, perinatal, and postnatal overnutrition: A review
-
Dyer JS, Rosenfeld CR. 2011. Metabolic imprinting by prenatal, perinatal, and postnatal overnutrition: A review. Semin Reprod Med 29: 266–276.
-
(2011)
Semin Reprod Med
, vol.29
, pp. 266-276
-
-
Dyer, J.S.1
Rosenfeld, C.R.2
-
45
-
-
0030930299
-
Molecular studies in 37 Silver–Russell syndrome patients: Frequency and etiology of uniparental disomy
-
Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. 1997. Molecular studies in 37 Silver–Russell syndrome patients: Frequency and etiology of uniparental disomy. Hum Genet 100: 415–419.
-
(1997)
Hum Genet
, vol.100
, pp. 415-419
-
-
Eggermann, T.1
Wollmann, H.A.2
Kuner, R.3
Eggermann, K.4
Enders, H.5
Kaiser, P.6
Ranke, M.B.7
-
46
-
-
84862540114
-
Epigenetic and genetic diagnosis of Silver–Russell syndrome
-
Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. 2012. Epigenetic and genetic diagnosis of Silver–Russell syndrome. Expert Rev Mol Diagn 12: 459–471.
-
(2012)
Expert Rev Mol Diagn
, vol.12
, pp. 459-471
-
-
Eggermann, T.1
Spengler, S.2
Gogiel, M.3
Begemann, M.4
Elbracht, M.5
-
47
-
-
0142216231
-
The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease
-
Ehrlich M. 2003. The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease. Clin Immunol 109: 17–28.
-
(2003)
Clin Immunol
, vol.109
, pp. 17-28
-
-
Ehrlich, M.1
-
48
-
-
0035667192
-
DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes
-
Ehrlich M, Buchanan KL, Tsien F, Jiang G, Sun B, Uicker W, Weemaes CM, Smeets D, Sperling K, Belohradsky BH, et al. 2001. DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum Mol Genet 10: 2917–2931.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2917-2931
-
-
Ehrlich, M.1
Buchanan, K.L.2
Tsien, F.3
Jiang, G.4
Sun, B.5
Uicker, W.6
Weemaes, C.M.7
Smeets, D.8
Sperling, K.9
Belohradsky, B.H.10
-
49
-
-
35848937244
-
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos
-
Eiges R, Urbach A, Malcov M, Frumkin T, Schwartz T, Amit A, Yaron Y, Eden A, Yanuka O, Benvenisty N, et al. 2007. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 1: 568–577.
-
(2007)
Cell Stem Cell
, vol.1
, pp. 568-577
-
-
Eiges, R.1
Urbach, A.2
Malcov, M.3
Frumkin, T.4
Schwartz, T.5
Amit, A.6
Yaron, Y.7
Eden, A.8
Yanuka, O.9
Benvenisty, N.10
-
50
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
Engel E. 1980. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6: 137–143.
-
(1980)
Am J Med Genet
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
51
-
-
0037115725
-
The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles
-
Fisher RA, Hodges MD, Rees HC, Sebire NJ, Seckl MJ, Newlands ES, Genest DR, Castrillon DH. 2002. The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. Hum Mol Genet 11: 3267–3272.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3267-3272
-
-
Fisher, R.A.1
Hodges, M.D.2
Rees, H.C.3
Sebire, N.J.4
Seckl, M.J.5
Newlands, E.S.6
Genest, D.R.7
Castrillon, D.H.8
-
52
-
-
0025107556
-
A deletion of the human b-globin locus activation region causes a major alteration in chromatin structure and replication across the entire b-globin locus
-
Forrester WC, Epner E, Driscoll MC, Enver T, Brice M, Papayannopoulou T, Groudine M. 1990. A deletion of the human b-globin locus activation region causes a major alteration in chromatin structure and replication across the entire b-globin locus. Genes Dev 4: 1637–1649.
-
(1990)
Genes Dev
, vol.4
, pp. 1637-1649
-
-
Forrester, W.C.1
Epner, E.2
Driscoll, M.C.3
Enver, T.4
Brice, M.5
Papayannopoulou, T.6
Groudine, M.7
-
53
-
-
23044514669
-
Epigenetic differences arise during the lifetime of monozygotic twins
-
Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestar ML, Heine- Suner D, Cigudosa JC, Urioste M, Benitez J, et al. 2005. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci 102: 10604–10609.
-
(2005)
Proc Natl Acad Sci
, vol.102
, pp. 10604-10609
-
-
Fraga, M.F.1
Ballestar, E.2
Paz, M.F.3
Ropero, S.4
Setien, F.5
Ballestar, M.L.6
Heine- Suner, D.7
Cigudosa, J.C.8
Urioste, M.9
Benitez, J.10
-
54
-
-
52049126415
-
Deletion ofMecp2 in Sim1-expressing neurons reveals a critical role forMeCP2 in feeding behavior, aggression, and the response to stress
-
Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, et al. 2008. Deletion ofMecp2 in Sim1-expressing neurons reveals a critical role forMeCP2 in feeding behavior, aggression, and the response to stress. Neuron 59: 947–958.
-
(2008)
Neuron
, vol.59
, pp. 947-958
-
-
Fyffe, S.L.1
Neul, J.L.2
Samaco, R.C.3
Chao, H.T.4
Ben-Shachar, S.5
Moretti, P.6
McGill, B.E.7
Goulding, E.H.8
Sullivan, E.9
Tecott, L.H.10
-
55
-
-
0037047439
-
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
Gabellini D, Green MR, Tupler R. 2002. Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110: 339–348.
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
56
-
-
84882718651
-
Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome
-
Garg SK, Lioy DT, Cheval H, McGann JC, Bissonnette JM, Murtha MJ, Foust KD, Kaspar BK, Bird A, Mandel G. 2013. Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome. J Neurosci 33: 13612–13620.
-
(2013)
J Neurosci
, vol.33
, pp. 13612-13620
-
-
Garg, S.K.1
Lioy, D.T.2
Cheval, H.3
McGann, J.C.4
Bissonnette, J.M.5
Murtha, M.J.6
Foust, K.D.7
Kaspar, B.K.8
Bird, A.9
Mandel, G.10
-
57
-
-
33344471941
-
Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice
-
Gemelli T, Berton O, Nelson ED, Perrotti LI, Jaenisch R, Monteggia LM. 2006. Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol Psychiatry 59: 468–476.
-
(2006)
Biol Psychiatry
, vol.59
, pp. 468-476
-
-
Gemelli, T.1
Berton, O.2
Nelson, E.D.3
Perrotti, L.I.4
Jaenisch, R.5
Monteggia, L.M.6
-
59
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with a-thalassemia (ATR-X syndrome)
-
Gibbons RJ, Picketts DJ, Villard L, Higgs DR. 1995. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with a-thalassemia (ATR-X syndrome). Cell 80: 837–845.
-
(1995)
Cell
, vol.80
, pp. 837-845
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
60
-
-
20244389965
-
Identification of acquired somatic mutations in the gene encoding chromatinremodeling factor ATRX in the a-thalassemia myelodysplasia syndrome (ATMDS)
-
Gibbons RJ, Pellagatti A, Garrick D, Wood WG, Malik N, Ayyub H, Langford C, Boultwood J, Wainscoat JS, Higgs DR. 2003. Identification of acquired somatic mutations in the gene encoding chromatinremodeling factor ATRX in the a-thalassemia myelodysplasia syndrome (ATMDS). Nat Genet 34: 446–449.
-
(2003)
Nat Genet
, vol.34
, pp. 446-449
-
-
Gibbons, R.J.1
Pellagatti, A.2
Garrick, D.3
Wood, W.G.4
Malik, N.5
Ayyub, H.6
Langford, C.7
Boultwood, J.8
Wainscoat, J.S.9
Higgs, D.R.10
-
61
-
-
25144454048
-
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver–Russell syndrome
-
Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, LeMerrer M, Burglen L, et al. 2005. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver–Russell syndrome. Nat Genet 37: 1003–1007.
-
(2005)
Nat Genet
, vol.37
, pp. 1003-1007
-
-
Gicquel, C.1
Rossignol, S.2
Cabrol, S.3
Houang, M.4
Steunou, V.5
Barbu, V.6
Danton, F.7
Thibaud, N.8
Lemerrer, M.9
Burglen, L.10
-
62
-
-
0037036468
-
Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases
-
Gowher H, Jeltsch A. 2002. Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases. J Biol Chem 277: 20409–20414.
-
(2002)
J Biol Chem
, vol.277
, pp. 20409-20414
-
-
Gowher, H.1
Jeltsch, A.2
-
63
-
-
0032928813
-
Activation by locus control regions?
-
Grosveld F. 1999. Activation by locus control regions? Curr Opin Genet Dev 9: 152–157.
-
(1999)
Curr Opin Genet Dev
, vol.9
, pp. 152-157
-
-
Grosveld, F.1
-
64
-
-
74549181276
-
Adverse effects of nutritional programming during prenatal and early postnatal life, some aspects of regulation and potential prevention and treatments
-
Guilloteau P, Zabielski R, Hammon HM, Metges CC. 2009. Adverse effects of nutritional programming during prenatal and early postnatal life, some aspects of regulation and potential prevention and treatments. J Physiol Pharmacol 60: 17–35.
-
(2009)
J Physiol Pharmacol
, vol.60
, pp. 17-35
-
-
Guilloteau, P.1
Zabielski, R.2
Hammon, H.M.3
Metges, C.C.4
-
65
-
-
33847266846
-
Reversal of neurological defects in a mouse model of Rett syndrome
-
Guy J, Gan J, Selfridge J, Cobb S, Bird A. 2007. Reversal of neurological defects in a mouse model of Rett syndrome. Science 315: 1143–1147.
-
(2007)
Science
, vol.315
, pp. 1143-1147
-
-
Guy, J.1
Gan, J.2
Selfridge, J.3
Cobb, S.4
Bird, A.5
-
66
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: Report of 35 cases
-
Hagberg B, Aicardi J, Dias K, Ramos O. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: Report of 35 cases. Ann Neurol 14: 471–479.
-
(1983)
Ann Neurol
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
67
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
Hagerman PJ, Hagerman RJ. 2004. The fragile-X premutation: A maturing perspective. Am J Hum Genet 74: 805–816.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
69
-
-
84874252793
-
Dynamics of 5-hydroxymethylcytosine and chromatin marks in mammalian neurogenesis
-
Hahn MA, Qiu R, Wu X, Li AX, Zhang H, Wang J, Jui J, Jin SG, Jiang Y, Pfeifer GP, Lu Q. 2012. Dynamics of 5-hydroxymethylcytosine and chromatin marks in mammalian neurogenesis. Cell Rep 3: 291–300.
-
(2012)
Cell Rep
, vol.3
, pp. 291-300
-
-
Hahn, M.A.1
Qiu, R.2
Wu, X.3
Li, A.X.4
Zhang, H.5
Wang, J.6
Jui, J.7
Jin, S.G.8
Jiang, Y.9
Pfeifer, G.P.10
Lu, Q.11
-
70
-
-
0344442391
-
The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer
-
Handa V, Saha T, Usdin K. 2003. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res 31: 6243–6248.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 6243-6248
-
-
Handa, V.1
Saha, T.2
Usdin, K.3
-
71
-
-
79959532375
-
Spectrum of MLL2 (ALR) mutations in 110 cases ofKabuki syndrome
-
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, et al. 2011. Spectrum of MLL2 (ALR) mutations in 110 cases ofKabuki syndrome. Am J Med Genet A 155A: 1511–1516.
-
(2011)
Am J Med Genet A
, vol.155A
, pp. 1511-1516
-
-
Hannibal, M.C.1
Buckingham, K.J.2
Ng, S.B.3
Ming, J.E.4
Beck, A.E.5
McMillin, M.J.6
Gildersleeve, H.I.7
Bigham, A.W.8
Tabor, H.K.9
Mefford, H.C.10
-
72
-
-
0033435205
-
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
-
Hansen RS, Wijmenga C, Luo P, Stanek AM, Canfield TK, Weemaes CM, Gartler SM. 1999. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc Natl Acad Sci 96: 14412–14417.
-
(1999)
Proc Natl Acad Sci
, vol.96
, pp. 14412-14417
-
-
Hansen, R.S.1
Wijmenga, C.2
Luo, P.3
Stanek, A.M.4
Canfield, T.K.5
Weemaes, C.M.6
Gartler, S.M.7
-
73
-
-
84867784222
-
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer
-
Hansmann T, Pliushch G, Leubner M, Kroll P, Endt D, Gehrig A, Preisler Adams S, Wieacker P, Haaf T. 2012.Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer. Hum Mol Genet 21: 4669–4679.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4669-4679
-
-
Hansmann, T.1
Pliushch, G.2
Leubner, M.3
Kroll, P.4
Endt, D.5
Gehrig, A.6
Preisler Adams, S.7
Wieacker, P.8
Haaf, T.9
-
74
-
-
0034713275
-
CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus
-
Hark AT, Schoenherr CJ, Katz DJ, Ingram RS, Levorse JM, Tilghman SM. 2000. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405: 486–489.
-
(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
-
76
-
-
0021344839
-
Cytogenetic studies of familial Prader–Willi syndrome
-
Hasegawa T, Hara M, Ando M, Osawa M, Fukuyama Y, Takahashi M, Yamada K. 1984. Cytogenetic studies of familial Prader–Willi syndrome. Hum Genet 65: 325–330.
-
(1984)
Hum Genet
, vol.65
, pp. 325-330
-
-
Hasegawa, T.1
Hara, M.2
O, M.3
Osawa, M.4
Fukuyama, Y.5
Takahashi, M.6
Yamada, K.7
-
77
-
-
0032544019
-
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
-
Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT. 1998. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci 95: 10038–10043.
-
(1998)
Proc Natl Acad Sci
, vol.95
, pp. 10038-10043
-
-
Hayward, B.E.1
Kamiya, M.2
Strain, L.3
Moran, V.4
Campbell, R.5
Hayashizaki, Y.6
Bonthron, D.T.7
-
78
-
-
0025738681
-
Uniparental paternal disomy in a genetic cancer-predisposing syndrome
-
Henry I, Bonaiti-Pellie C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C. 1991. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351: 665–667.
-
(1991)
Nature
, vol.351
, pp. 665-667
-
-
Henry, I.1
Bonaiti-Pellie, C.2
Chehensse, V.3
Beldjord, C.4
Schwartz, C.5
Utermann, G.6
Junien, C.7
-
79
-
-
0024802174
-
Age-related methylation changes in DNA may reflect the proliferative potential of organs
-
Hoal-van Helden EG, van Helden PD. 1989. Age-related methylation changes in DNA may reflect the proliferative potential of organs. Mutat Res 219: 263–266.
-
(1989)
Mutat Res
, vol.219
, pp. 263-266
-
-
Hoal-Van Helden, E.G.1
Van Helden, P.D.2
-
80
-
-
0038663165
-
Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia
-
Ingrosso D, Cimmino A, Perna AF, Masella L, De Santo NG, De Bonis ML, Vacca M, D’Esposito M, D’Urso M, Galletti P, et al. 2003. Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia. Lancet 361: 1693–1699.
-
(2003)
Lancet
, vol.361
, pp. 1693-1699
-
-
Ingrosso, D.1
Cimmino, A.2
Perna, A.F.3
Masella, L.4
De Santo, N.G.5
De Bonis, M.L.6
Vacca, M.7
D’Esposito, M.8
D’Urso, M.9
Galletti, P.10
-
81
-
-
0028001087
-
Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon
-
Issa JP, Ottaviano YL, Celano P, Hamilton SR, Davidson NE, Baylin SB. 1994. Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat Genet 7: 536–540.
-
(1994)
Nat Genet
, vol.7
, pp. 536-540
-
-
Issa, J.P.1
Ottaviano, Y.L.2
Celano, P.3
Hamilton, S.R.4
Davidson, N.E.5
Baylin, S.B.6
-
82
-
-
0027286618
-
An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
-
Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas- Pequignot E. 1993. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet 2: 731–735.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 731-735
-
-
Jeanpierre, M.1
Turleau, C.2
Aurias, A.3
Prieur, M.4
Ledeist, F.5
Fischer, A.6
Viegas- Pequignot, E.7
-
83
-
-
0032192481
-
Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
-
Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL. 1998. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21: 799–811.
-
(1998)
Neuron
, vol.21
, pp. 799-811
-
-
Jiang, Y.H.1
Armstrong, D.2
Albrecht, U.3
Atkins, C.M.4
Noebels, J.L.5
Eichele, G.6
Sweatt, J.D.7
Beaudet, A.L.8
-
84
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin P, Zarnescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, Warren ST. 2003. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39: 739–747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
85
-
-
7944232720
-
RNA and microRNAs in fragile X mental retardation
-
Jin P, Alisch RS, Warren ST. 2004. RNA and microRNAs in fragile X mental retardation. Nat Cell Biol 6: 1048–1053.
-
(2004)
Nat Cell Biol
, vol.6
, pp. 1048-1053
-
-
Jin, P.1
Alisch, R.S.2
Warren, S.T.3
-
86
-
-
39749152283
-
DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
-
Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J, Fields CR, Delmas AL, Liu X, Qiu J, et al. 2008.DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. Hum Mol Genet 17: 690–709.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 690-709
-
-
Jin, B.1
Tao, Q.2
Peng, J.3
Soo, H.M.4
Wu, W.5
Ying, J.6
Fields, C.R.7
Delmas, A.L.8
Liu, X.9
Qiu, J.10
-
87
-
-
0031837109
-
Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
-
Jones PL, Veenstra GJ, Wade PA, Vermaak D, Kass SU, Landsberger N, Strouboulis J, Wolffe AP. 1998. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nat Genet 19: 187–191.
-
(1998)
Nat Genet
, vol.19
, pp. 187-191
-
-
Jones, P.L.1
Veenstra, G.J.2
Wade, P.A.3
Vermaak, D.4
Kass, S.U.5
Landsberger, N.6
Strouboulis, J.7
Wolffe, A.P.8
-
88
-
-
0030827119
-
Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith–Wiedemann syndrome
-
Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN. 1997. Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith–Wiedemann syndrome. Hum Mol Genet 6: 1543–1548.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1543-1548
-
-
Joyce, J.A.1
Lam, W.K.2
Catchpoole, D.J.3
Jenks, P.4
Reik, W.5
Maher, E.R.6
Schofield, P.N.7
-
89
-
-
38649135702
-
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
-
Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, et al. 2008. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet 40: 237–242.
-
(2008)
Nat Genet
, vol.40
, pp. 237-242
-
-
Kagami, M.1
Sekita, Y.2
Nishimura, G.3
Irie, M.4
Kato, F.5
Okada, M.6
Yamamori, S.7
Kishimoto, H.8
Nakayama, M.9
Tanaka, Y.10
-
90
-
-
0017696835
-
Androgenetic origin of hydatidiform mole
-
Kajii T, Ohama K. 1977. Androgenetic origin of hydatidiform mole. Nature 268: 633–634.
-
(1977)
Nature
, vol.268
, pp. 633-634
-
-
Kajii, T.1
Ohama, K.2
-
91
-
-
84920516971
-
Enhancer RNAs: A class of long noncoding RNAs synthesized at enhancers
-
Kim T-K, Hemberg M, Gray JM. 2014. Enhancer RNAs: A class of long noncoding RNAs synthesized at enhancers. Cold Spring Harb Perspect Biol doi: 10.1101/cshperspect.a018622.
-
(2014)
Cold Spring Harb Perspect Biol
-
-
Kim, T.-K.1
Hemberg, M.2
Gray, J.M.3
-
92
-
-
0021014396
-
B-globin gene inactivation by DNA translocation in g b-thalassaemia
-
Kioussis D, Vanin E, deLange T, Flavell RA, Grosveld FG. 1983. b-globin gene inactivation by DNA translocation in g b-thalassaemia. Nature 306: 662–666.
-
(1983)
Nature
, vol.306
, pp. 662-666
-
-
Kioussis, D.1
Vanin, E.2
Delange, T.3
Flavell, R.A.4
Grosveld, F.G.5
-
93
-
-
7244243971
-
MECP2 is progressively expressed in postmigratory neurons and is involved in neuronal maturation rather than cell fate decisions
-
Kishi N, Macklis JD. 2004. MECP2 is progressively expressed in postmigratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol Cell Neurosci 27: 306–321.
-
(2004)
Mol Cell Neurosci
, vol.27
, pp. 306-321
-
-
Kishi, N.1
Macklis, J.D.2
-
94
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T, Lalande M, Wagstaff J. 1997. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15: 70–73.
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
95
-
-
0034162852
-
Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
-
Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, Narayan A, Bourc’his D, Viegas-Pequignot E, Ehrlich M, Hanash SM. 2000. Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum Mol Genet 9: 597–604.
-
(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-Pequignot, E.8
Ehrlich, M.9
Hanash, S.M.10
-
96
-
-
0029788562
-
Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype
-
Korenke GC, Fuchs S, Krasemann E, Doerr HG, Wilichowski E, Hunneman DH, Hanefeld F. 1996. Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype. Ann Neurol 40: 254–257.
-
(1996)
Ann Neurol
, vol.40
, pp. 254-257
-
-
Korenke, G.C.1
Fuchs, S.2
Krasemann, E.3
Doerr, H.G.4
Wilichowski, E.5
Hunneman, D.H.6
Hanefeld, F.7
-
97
-
-
84905489024
-
Expanding the epigenetic landscape: Novel modifications of cytosine in genomic DNA
-
Kriaucionis S, Tahiliani M. 2014. Expanding the epigenetic landscape: Novel modifications of cytosine in genomic DNA. Cold Spring Harb Perspect Biol 6: a018630.
-
(2014)
Cold Spring Harb Perspect Biol
, vol.6
-
-
Kriaucionis, S.1
Tahiliani, M.2
-
98
-
-
0019377986
-
Deletions of chromosome 15 as a cause of the Prader– Willi syndrome
-
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. 1981. Deletions of chromosome 15 as a cause of the Prader– Willi syndrome. N Engl J Med 304: 325–329.
-
(1981)
N Engl J Med
, vol.304
, pp. 325-329
-
-
Ledbetter, D.H.1
Riccardi, V.M.2
Airhart, S.D.3
Strobel, R.J.4
Keenan, B.S.5
Crawford, J.D.6
-
99
-
-
84855833698
-
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
-
Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. 2012. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 90: 119–124.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 119-124
-
-
Lederer, D.1
Grisart, B.2
Digilio, M.C.3
Benoit, V.4
Crespin, M.5
Ghariani, S.C.6
Maystadt, I.7
Dallapiccola, B.8
Verellen-Dumoulin, C.9
-
100
-
-
0033609117
-
Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulinlike growth factor II imprinting
-
Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP. 1999. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulinlike growth factor II imprinting. Proc Natl Acad Sci 96: 5203–5208.
-
(1999)
Proc Natl Acad Sci
, vol.96
, pp. 5203-5208
-
-
Lee, M.P.1
Debaun, M.R.2
Mitsuya, K.3
Galonek, H.L.4
Brandenburg, S.5
Oshimura, M.6
Feinberg, A.P.7
-
101
-
-
0036788610
-
Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere
-
Lemmers RJ, de Kievit P, Sandkuijl L, Padberg GW, van Ommen GJ, Frants RR, van der Maarel SM. 2002. Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere. Nat Genet 32: 235–236.
-
(2002)
Nat Genet
, vol.32
, pp. 235-236
-
-
Lemmers, R.J.1
De Kievit, P.2
Sandkuijl, L.3
Padberg, G.W.4
Van Ommen, G.J.5
Frants, R.R.6
Van Der Maarel, S.M.7
-
102
-
-
0026747761
-
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
-
Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F, Bird A. 1992. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69: 905–914.
-
(1992)
Cell
, vol.69
, pp. 905-914
-
-
Lewis, J.D.1
Meehan, R.R.2
Henzel, W.J.3
Maurer-Fogy, I.4
Jeppesen, P.5
Klein, F.6
Bird, A.7
-
104
-
-
79960907896
-
A role for glia in the progression of Rett’s syndrome
-
Lioy DT, Garg SK, Monaghan CE, Raber J, Foust KD, Kaspar BK, Hirrlinger PG, Kirchhoff F, Bissonnette JM, Ballas N, et al. 2011. A role for glia in the progression of Rett’s syndrome. Nature 475: 497–500.
-
(2011)
Nature
, vol.475
, pp. 497-500
-
-
Lioy, D.T.1
Garg, S.K.2
Monaghan, C.E.3
Raber, J.4
Foust, K.D.5
Kaspar, B.K.6
Hirrlinger, P.G.7
Kirchhoff, F.8
Bissonnette, J.M.9
Ballas, N.10
-
105
-
-
15144344289
-
Maternal care, hippo- campal glucocorticoid receptors, and hypothalamic-pituitary-adrenal responses to stress
-
Liu D, Diorio J, Tannenbaum B, Caldji C, Francis D, Freedman A, Sharma S, Pearson D, Plotsky PM, Meaney MJ. 1997. Maternal care, hippo- campal glucocorticoid receptors, and hypothalamic-pituitary-adrenal responses to stress. Science 277: 1659–1662.
-
(1997)
Science
, vol.277
, pp. 1659-1662
-
-
Liu, D.1
Diorio, J.2
Tannenbaum, B.3
Caldji, C.4
Francis, D.5
Freedman, A.6
Sharma, S.7
Pearson, D.8
Plotsky, P.M.9
Meaney, M.J.10
-
106
-
-
84956961077
-
Histone and DNA modifications as regulators of neuronal development and function.
-
Lomvardas S, Maniatis T. 2014. Histone and DNA modifications as regulators of neuronal development and function. Cold Spring Harb Perspect Biol doi: 10.1101/cshperspect.a019489.
-
(2014)
Cold Spring Harb Perspect Biol
-
-
Lomvardas, S.1
Maniatis, T.2
-
107
-
-
0014517848
-
A marker X chromosome
-
Lubs HA. 1969. A marker X chromosome. AmJHum Genet 21: 231–244.
-
(1969)
Amjhum Genet
, vol.21
, pp. 231-244
-
-
Lubs, H.A.1
-
108
-
-
17144413341
-
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples
-
Ludwig M, Katalinic A, Gross S, Sutcliffe A, Varon R, Horsthemke B. 2005. Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples. J Med Genet 42: 289–291.
-
(2005)
J Med Genet
, vol.42
, pp. 289-291
-
-
Ludwig, M.1
Katalinic, A.2
Gross, S.3
Sutcliffe, A.4
Varon, R.5
Horsthemke, B.6
-
109
-
-
0023522069
-
Is Angelman syndrome an alternate result of del(15)(q11q13)?
-
Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S. 1987. Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 28: 829–838.
-
(1987)
Am J Med Genet
, vol.28
, pp. 829-838
-
-
Magenis, R.E.1
Brown, M.G.2
Lacy, D.A.3
Budden, S.4
Lafranchi, S.5
-
110
-
-
0000524625
-
A pedigree of mental defect showing sex-linkage
-
Martin J, Bell J. 1943. A pedigree of mental defect showing sex-linkage. Arch Neurol Psychiat 6: 154–157.
-
(1943)
Arch Neurol Psychiat
, vol.6
, pp. 154-157
-
-
Martin, J.1
Bell, J.2
-
111
-
-
0142025332
-
Muscular dystrophy overview: Genetics and diagnosis
-
Mathews KD. 2003.Muscular dystrophy overview: Genetics and diagnosis. Neurol Clin 21: 795–816.
-
(2003)
Neurol Clin
, vol.21
, pp. 795-816
-
-
Mathews, K.D.1
-
112
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. 1997. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15: 74–77.
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.J.4
Jiang, Y.H.5
Benton, C.S.6
Rommens, J.M.7
Beaudet, A.L.8
-
113
-
-
0024589528
-
Age-related changes in DNA methylation: Do they represent continued developmental changes?
-
Mays-Hoopes LL. 1989. Age-related changes in DNA methylation: Do they represent continued developmental changes? Int Rev Cytol 114: 181–220.
-
(1989)
Int Rev Cytol
, vol.114
, pp. 181-220
-
-
Mays-Hoopes, L.L.1
-
114
-
-
13044252871
-
Localization of a putative transcriptional regulator (ATRx) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
-
McDowell TL, Gibbons RJ, Sutherland H, O’Rourke DM, Bickmore WA, Pombo A, Turley H, Gatter K, Picketts DJ, Buckle VJ, et al. 1999. Localization of a putative transcriptional regulator (ATRx) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci 96: 13983–13988.
-
(1999)
Proc Natl Acad Sci
, vol.96
, pp. 13983-13988
-
-
McDowell, T.L.1
Gibbons, R.J.2
Sutherland, H.3
O’Rourke, D.M.4
Bickmore, W.A.5
Pombo, A.6
Turley, H.7
Gatter, K.8
Picketts, D.J.9
Buckle, V.J.10
-
116
-
-
23944509593
-
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
-
Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT. 2005. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet 42: e12.
-
(2005)
J Med Genet
, vol.42
-
-
Meins, M.1
Lehmann, J.2
Gerresheim, F.3
Herchenbach, J.4
Hagedorn, M.5
Hameister, K.6
Epplen, J.T.7
-
117
-
-
84871563384
-
MeCP2 binds to 5hmC enriched within active genes and assessible chromatin in the nervous system
-
Mellén M, Ayata P, Dewell S, Kriaucionis S, Heintz N. 2012.MeCP2 binds to 5hmC enriched within active genes and assessible chromatin in the nervous system. Cell 151: 1417–1430.
-
(2012)
Cell
, vol.151
, pp. 1417-1430
-
-
Mellén, M.1
Ayata, P.2
Dewell, S.3
Kriaucionis, S.4
Heintz, N.5
-
118
-
-
0033804436
-
A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
-
Meloni I, Bruttini M, Longo I, Mari F, Rizzolio F, D’Adamo P, Denvriendt K, Fryns JP, Toniolo D, Renieri A. 2000. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 67: 982–985.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 982-985
-
-
Meloni, I.1
Bruttini, M.2
Longo, I.3
Mari, F.4
Rizzolio, F.5
D’Adamo, P.6
Denvriendt, K.7
Fryns, J.P.8
Toniolo, D.9
Renieri, A.10
-
119
-
-
84863505435
-
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
-
Meng L, Person RE, Beaudet AL. 2012. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum Mol Genet 21: 3001–3012.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3001-3012
-
-
Meng, L.1
Person, R.E.2
Beaudet, A.L.3
-
120
-
-
84892744170
-
Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model
-
Meng L, Person RE, Huang W, Zhu PJ, Costa-Mattioli M, Beaudet AL. 2013. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. PLoS Genet 9: e1004039.
-
(2013)
Plos Genet
, vol.9
-
-
Meng, L.1
Person, R.E.2
Huang, W.3
Zhu, P.J.4
Costa-Mattioli, M.5
Beaudet, A.L.6
-
121
-
-
1642441427
-
Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain
-
Mullaney BC, Johnston MV, Blue ME. 2004. Developmental expression of methyl-CpG binding protein 2 is dynamically regulated in the rodent brain. Neuroscience 123: 939–949.
-
(2004)
Neuroscience
, vol.123
, pp. 939-949
-
-
Mullaney, B.C.1
Johnston, M.V.2
Blue, M.E.3
-
122
-
-
0035339491
-
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein–Taybi syndrome
-
Murata T, Kurokawa R, Krones A, Tatsumi K, Ishii M, Taki T, Masuno M, Ohashi H, Yanagisawa M, Rosenfeld MG, et al. 2001. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein–Taybi syndrome. Hum Mol Genet 10: 1071–1076.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1071-1076
-
-
Murata, T.1
Kurokawa, R.2
Krones, A.3
Tatsumi, K.4
Ishii, M.5
Taki, T.6
Masuno, M.7
Ohashi, H.8
Yanagisawa, M.9
Rosenfeld, M.G.10
-
123
-
-
33644615366
-
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
-
Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, et al. 2006. Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. Nat Genet 38: 300–302.
-
(2006)
Nat Genet
, vol.38
, pp. 300-302
-
-
Murdoch, S.1
Djuric, U.2
Mazhar, B.3
Seoud, M.4
Khan, R.5
Kuick, R.6
Bagga, R.7
Kircheisen, R.8
Ao, A.9
Ratti, B.10
-
124
-
-
0342437491
-
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
-
Nan X, Campoy FJ, Bird A. 1997. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88: 471–481.
-
(1997)
Cell
, vol.88
, pp. 471-481
-
-
Nan, X.1
Campoy, F.J.2
Bird, A.3
-
125
-
-
0032574977
-
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
-
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A. 1998. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393: 386–389.
-
(1998)
Nature
, vol.393
, pp. 386-389
-
-
Nan, X.1
Ng, H.H.2
Johnson, C.A.3
Laherty, C.D.4
Turner, B.M.5
Eisenman, R.N.6
Bird, A.7
-
126
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, et al. 2010. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42: 790–793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
-
127
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader–Willi syndrome
-
Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M. 1989. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader–Willi syndrome. Nature 342: 281–285.
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.2
Butler, M.G.3
Karam, S.4
Lalande, M.5
-
128
-
-
0030606239
-
The transcriptional coactivators p300 and CBP are histone acetyltransferases
-
Ogryzko VV, Schiltz RL, Russanova V, Howard BH, Nakatani Y. 1996. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell 87: 953–959.
-
(1996)
Cell
, vol.87
, pp. 953-959
-
-
Ogryzko, V.V.1
Schiltz, R.L.2
Russanova, V.3
Howard, B.H.4
Nakatani, Y.5
-
129
-
-
0033073395
-
Imprinting- mutation mechanisms in Prader–Willi syndrome
-
Ohta T, Gray TA, Rogan PK, Buiting K, Gabriel JM, Saitoh S, Muralidhar B, Bilienska B, Krajewska Walasek M, Driscoll DJ, et al. 1999. Imprinting- mutation mechanisms in Prader–Willi syndrome. Am J Hum Genet 64: 397–413.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 397-413
-
-
Ohta, T.1
Gray, T.A.2
Rogan, P.K.3
Buiting, K.4
Gabriel, J.M.5
Saitoh, S.6
Muralidhar, B.7
Bilienska, B.8
Krajewska Walasek, M.9
Driscoll, D.J.10
-
130
-
-
0033615717
-
DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
-
Okano M, Bell DW, Haber DA, Li E. 1999. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99: 247–257.
-
(1999)
Cell
, vol.99
, pp. 247-257
-
-
Okano, M.1
Bell, D.W.2
Haber, D.A.3
Li, E.4
-
131
-
-
0037221929
-
Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection
-
Orstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O, Buiting K. 2003. Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J Hum Genet 72: 218–219.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 218-219
-
-
Orstavik, K.H.1
Eiklid, K.2
Van Der Hagen, C.B.3
Spetalen, S.4
Kierulf, K.5
Skjeldal, O.6
Buiting, K.7
-
132
-
-
80052717970
-
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte
-
Parry DA, Logan CV, Hayward BE, Shires M, Landolsi H, Diggle C, Carr I, Rittore C, Touitou I, Philibert L, et al. 2011.Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. AmJHum Genet 89: 451–458.
-
(2011)
Amjhum Genet
, vol.89
, pp. 451-458
-
-
Parry, D.A.1
Logan, C.V.2
Hayward, B.E.3
Shires, M.4
Landolsi, H.5
Diggle, C.6
Carr, I.7
Rittore, C.8
Touitou, I.9
Philibert, L.10
-
133
-
-
0029022770
-
Rubinstein–Taybi syndrome caused by mutations in the transcriptional co-activator CBP
-
Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al. 1995. Rubinstein–Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376: 348–351.
-
(1995)
Nature
, vol.376
, pp. 348-351
-
-
Petrij, F.1
Giles, R.H.2
Dauwerse, H.G.3
Saris, J.J.4
Hennekam, R.C.5
Masuno, M.6
Tommerup, N.7
Van Ommen, G.J.8
Goodman, R.H.9
Peters, D.J.10
-
134
-
-
2342509705
-
The origin of schizophrenia: Genetic thesis, epigenetic antithesis, and resolving synthesis
-
Petronis A. 2004. The origin of schizophrenia: Genetic thesis, epigenetic antithesis, and resolving synthesis. Biol Psychiatry 55: 965–970.
-
(2004)
Biol Psychiatry
, vol.55
, pp. 965-970
-
-
Petronis, A.1
-
135
-
-
0029827343
-
ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
-
Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ. 1996. ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet 5: 1899–1907.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1899-1907
-
-
Picketts, D.J.1
Higgs, D.R.2
Bachoo, S.3
Blake, D.J.4
Quarrell, O.W.5
Gibbons, R.J.6
-
136
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, Zhang F, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL. 1991. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66: 817–822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
137
-
-
84869203280
-
MLH1 methylation screening is effective in identifying epimutation carriers
-
Pineda M, Mur P, Iniesta MD, Borras E, Campos O, Vargas G, Iglesias S, Fernandez A, Gruber SB, Lazaro C, et al. 2012. MLH1 methylation screening is effective in identifying epimutation carriers. Eur J Hum Genet 20: 1256–1264.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 1256-1264
-
-
Pineda, M.1
Mur, P.2
Iniesta, M.D.3
Borras, E.4
Campos, O.5
Vargas, G.6
Iglesias, S.7
Fernandez, A.8
Gruber, S.B.9
Lazaro, C.10
-
138
-
-
0024518392
-
Genetic linkage of Beckwith–Wiedemann syndrome to 11p15
-
Ping AJ, Reeve AE, Law DJ, Young MR, Boehnke M, Feinberg AP. 1989. Genetic linkage of Beckwith–Wiedemann syndrome to 11p15. Am J Hum Genet 44: 720–723.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 720-723
-
-
Ping, A.J.1
Reeve, A.E.2
Law, D.J.3
Young, M.R.4
Boehnke, M.5
Feinberg, A.P.6
-
139
-
-
84953305747
-
The necessity of chromatin: Aview in perspective
-
Pirrotta V. 2014. The necessity of chromatin: Aview in perspective. Cold Spring Harb Perspect Biol doi: 10.1101/cshperspect.a019547.
-
(2014)
Cold Spring Harb Perspect Biol
-
-
Pirrotta, V.1
-
140
-
-
20144363310
-
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith–Wiedemann syndrome and Wilms’ tumor
-
Prawitt D, Enklaar T, Gartner-Rupprecht B, Spangenberg C, Oswald M, Lausch E, Schmidtke P, Reutzel D, Fees S, Lucito R, et al. 2005. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith–Wiedemann syndrome and Wilms’ tumor. Proc Natl Acad Sci 102: 4085–4090.
-
(2005)
Proc Natl Acad Sci
, vol.102
, pp. 4085-4090
-
-
Prawitt, D.1
Enklaar, T.2
Gartner-Rupprecht, B.3
Spangenberg, C.4
Oswald, M.5
Lausch, E.6
Schmidtke, P.7
Reutzel, D.8
Fees, S.9
Lucito, R.10
-
141
-
-
66149139048
-
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
-
Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, et al. 2009. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol 66: 771–782.
-
(2009)
Ann Neurol
, vol.66
, pp. 771-782
-
-
Ramocki, M.B.1
Peters, S.U.2
Tavyev, Y.J.3
Zhang, F.4
Carvalho, C.M.5
Schaaf, C.P.6
Richman, R.7
Fang, P.8
Glaze, D.G.9
Lupski, J.R.10
-
142
-
-
0033805888
-
Genomic DNA methylation decreases in response to moderate folate depletion in elderly women
-
Rampersaud GC, Kauwell GP, Hutson AD, Cerda JJ, Bailey LB. 2000. Genomic DNA methylation decreases in response to moderate folate depletion in elderly women. Am J Clin Nutr 72: 998–1003.
-
(2000)
Am J Clin Nutr
, vol.72
, pp. 998-1003
-
-
Rampersaud, G.C.1
Kauwell, G.P.2
Hutson, A.D.3
Cerda, J.J.4
Bailey, L.B.5
-
143
-
-
0024447140
-
Genomic imprinting and genetic disorders in man
-
Reik W. 1989. Genomic imprinting and genetic disorders in man. Trends Genet 5: 331–336.
-
(1989)
Trends Genet
, vol.5
, pp. 331-336
-
-
Reik, W.1
-
145
-
-
0019654133
-
Fragile X-linked mental retardation: The Martin-Bell syndrome
-
Richards BW, Sylvester PE, Brooker C. 1981. Fragile X-linked mental retardation: The Martin-Bell syndrome. J Ment Defic Res 25: 253–256.
-
(1981)
J Ment Defic Res
, vol.25
, pp. 253-256
-
-
Richards, B.W.1
Sylvester, P.E.2
Brooker, C.3
-
147
-
-
84866403603
-
Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome
-
Robinson L, Guy J, McKay L, Brockett E, Spike RC, Selfridge J, De Sousa D, Merusi C, Riedel G, Bird A, et al. 2012. Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome. Brain 135: 2699–2710.
-
(2012)
Brain
, vol.135
, pp. 2699-2710
-
-
Robinson, L.1
Guy, J.2
McKay, L.3
Brockett, E.4
Spike, R.C.5
Selfridge, J.6
De Sousa, D.7
Merusi, C.8
Riedel, G.9
Bird, A.10
-
148
-
-
20144386935
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease
-
Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, vanOmmen GJ, Breuning MH, et al. 2005. Genetic heterogeneity in Rubinstein–Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 76: 572–580.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 572-580
-
-
Roelfsema, J.H.1
White, S.J.2
Ariyurek, Y.3
Bartholdi, D.4
Niedrist, D.5
Papadia, F.6
Bacino, C.A.7
Den Dunnen, J.T.8
Vanommen, G.J.9
Breuning, M.H.10
-
149
-
-
0032067559
-
An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
-
Rougeulle C, Cardoso C, Fontes M, Colleaux L, Lalande M. 1998. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19: 15–16.
-
(1998)
Nat Genet
, vol.19
, pp. 15-16
-
-
Rougeulle, C.1
Cardoso, C.2
Fontes, M.3
Colleaux, L.4
Lalande, M.5
-
150
-
-
44349191455
-
Prader–Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
-
Sahoo T, del Gaudio D, German JR, Shinawi M, Peters SU, Person RE, Garnica A, Cheung SW, Beaudet AL. 2008. Prader–Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet 40: 719–721.
-
(2008)
Nat Genet
, vol.40
, pp. 719-721
-
-
Sahoo, T.1
Del Gaudio, D.2
German, J.R.3
Shinawi, M.4
Peters, S.U.5
Person, R.E.6
Garnica, A.7
Cheung, S.W.8
Beaudet, A.L.9
-
151
-
-
76049091733
-
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
-
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, et al. 2009. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci 106: 21966–21971.
-
(2009)
Proc Natl Acad Sci
, vol.106
, pp. 21966-21971
-
-
Samaco, R.C.1
Mandel-Brehm, C.2
Chao, H.T.3
Ward, C.S.4
Fyffe-Maricich, S.L.5
Ren, J.6
Hyland, K.7
Thaller, C.8
Maricich, S.M.9
Humphreys, P.10
-
152
-
-
84887081901
-
Truncating mutations of MAGEL2 cause Prader–Willi phenotypes and autism
-
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, et al. 2013. Truncating mutations of MAGEL2 cause Prader–Willi phenotypes and autism. Nat Genet 45: 1405–1408.
-
(2013)
Nat Genet
, vol.45
, pp. 1405-1408
-
-
Schaaf, C.P.1
Gonzalez-Garay, M.L.2
Xia, F.3
Potocki, L.4
Gripp, K.W.5
Zhang, B.6
Peters, B.A.7
McElwain, M.A.8
Drmanac, R.9
Beaudet, A.L.10
-
153
-
-
0015222485
-
Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome
-
Schimke RN, Horton WA, King CR. 1971. Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome. Lancet 2: 1088–1089.
-
(1971)
Lancet
, vol.2
, pp. 1088-1089
-
-
Schimke, R.N.1
Horton, W.A.2
King, C.R.3
-
154
-
-
26444617224
-
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader–Willi syndrome
-
Schule B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U. 2005. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader–Willi syndrome. BMC Med Genet 6: 18.
-
(2005)
BMC Med Genet
, vol.6
-
-
Schule, B.1
Albalwi, M.2
Northrop, E.3
Francis, D.I.4
Rowell, M.5
Slater, H.R.6
Gardner, R.J.7
Francke, U.8
-
155
-
-
82355190897
-
The early programming of metabolic health: Is epigenetic setting the missing link?
-
Sebert S, Sharkey D, Budge H, Symonds ME. 2011. The early programming of metabolic health: Is epigenetic setting the missing link? Am J Clin Nutr 94: 1953S–1958S.
-
(2011)
Am J Clin Nutr
, vol.94
-
-
Sebert, S.1
Sharkey, D.2
Budge, H.3
Symonds, M.E.4
-
156
-
-
0037081840
-
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
-
Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. 2002. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 11: 115–124.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 115-124
-
-
Shahbazian, M.D.1
Antalffy, B.2
Armstrong, D.L.3
Zoghbi, H.Y.4
-
157
-
-
80053948646
-
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome
-
Sheridan SD, Theriault KM, Reis SA, Zhou F, Madison JM, Daheron L, Loring JF, Haggarty SJ. 2011. Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. PLoS One 6: e26203.
-
(2011)
Plos One
, vol.6
-
-
Sheridan, S.D.1
Theriault, K.M.2
Reis, S.A.3
Zhou, F.4
Madison, J.M.5
Daheron, L.6
Loring, J.F.7
Haggarty, S.J.8
-
158
-
-
76849094693
-
NeuronalMeCP2 is expressed at near histoneoctamer levels and globally alters the chromatin state
-
Skene PJ, Illingworth RS, Webb S, Kerr AR, James KD, Turner DJ, Andrews R, Bird AP. 2010. NeuronalMeCP2 is expressed at near histoneoctamer levels and globally alters the chromatin state. Mol Cell 37: 457–468.
-
(2010)
Mol Cell
, vol.37
, pp. 457-468
-
-
Skene, P.J.1
Illingworth, R.S.2
Webb, S.3
Kerr, A.R.4
James, K.D.5
Turner, D.J.6
Rews, R.7
Bird, A.P.8
-
159
-
-
0026566594
-
Prader–Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
-
Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP, Ropers HH, van Oost BA. 1992. Prader–Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med 326: 807–811.
-
(1992)
N Engl J Med
, vol.326
, pp. 807-811
-
-
Smeets, D.F.1
Hamel, B.C.2
Nelen, M.R.3
Smeets, H.J.4
Bollen, J.H.5
Smits, A.P.6
Ropers, H.H.7
Van Oost, B.A.8
-
160
-
-
0027989585
-
ICF syndrome: A new case and review of the literature
-
Smeets DF, Moog U, Weemaes CM, Vaes Peeters G, Merkx GF, Niehof JP, Hamers G. 1994. ICF syndrome: A new case and review of the literature. Hum Genet 94: 240–246.
-
(1994)
Hum Genet
, vol.94
, pp. 240-246
-
-
Smeets, D.F.1
Moog, U.2
Weemaes, C.M.3
Vaes Peeters, G.4
Merkx, G.F.5
Niehof, J.P.6
Hamers, G.7
-
161
-
-
0033529207
-
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith– Wiedemann syndrome
-
Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, et al. 1999. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith– Wiedemann syndrome. Proc Natl Acad Sci 96: 8064–8069.
-
(1999)
Proc Natl Acad Sci
, vol.96
, pp. 8064-8069
-
-
Smilinich, N.J.1
Day, C.D.2
Fitzpatrick, G.V.3
Caldwell, G.M.4
Lossie, A.C.5
Cooper, P.R.6
Smallwood, A.C.7
Joyce, J.A.8
Schofield, P.N.9
Reik, W.10
-
162
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O’Brien WE, Beaudet AL. 1988. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42: 217–226.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Willard, H.F.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O’Brien, W.E.8
Beaudet, A.L.9
-
163
-
-
0025733274
-
Schimke immuno-osseous dysplasia: A newly recognized multisystem disease
-
Spranger J, Hinkel GK, Stoss H, Thoenes W, Wargowski D, Zepp F. 1991. Schimke immuno-osseous dysplasia: A newly recognized multisystem disease. J Pediatr 119: 64–72.
-
(1991)
J Pediatr
, vol.119
, pp. 64-72
-
-
Spranger, J.1
Hinkel, G.K.2
Stoss, H.3
Thoenes, W.4
Wargowski, D.5
Zepp, F.6
-
164
-
-
0030735169
-
Transactivation of Igf2 in a mouse model of Beckwith–Wiedemann syndrome
-
Sun FL, Dean WL, Kelsey G, Allen ND, Reik W. 1997. Transactivation of Igf2 in a mouse model of Beckwith–Wiedemann syndrome. Nature 389: 809–815.
-
(1997)
Nature
, vol.389
, pp. 809-815
-
-
Sun, F.L.1
Dean, W.L.2
Kelsey, G.3
Allen, N.D.4
Reik, W.5
-
165
-
-
2442424419
-
Germline epimutation of MLH1 in individuals with multiple cancers
-
Suter CM, Martin DI, Ward RL. 2004. Germline epimutation of MLH1 in individuals with multiple cancers. Nat Genet 36: 497–501.
-
(2004)
Nat Genet
, vol.36
, pp. 497-501
-
-
Suter, C.M.1
Martin, D.I.2
Ward, R.L.3
-
166
-
-
0017381277
-
Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium
-
Sutherland GR. 1977. Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium. Science 197: 265–266.
-
(1977)
Science
, vol.197
, pp. 265-266
-
-
Sutherland, G.R.1
-
167
-
-
9644278312
-
Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia
-
Taha D, Boerkoel CF, Balfe JW, Khalifah M, Sloan EA, Barbar M, Haider A, Kanaan H. 2004. Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. AmJMed Genet A 131: 194–199.
-
(2004)
Amjmed Genet A
, vol.131
, pp. 194-199
-
-
Taha, D.1
Boerkoel, C.F.2
Balfe, J.W.3
Khalifah, M.4
Sloan, E.A.5
Barbar, M.6
Haider, A.7
Kanaan, H.8
-
168
-
-
0036918736
-
Transient neonatal diabetes, a disorder of imprinting
-
Temple IK, Shield JP. 2002. Transient neonatal diabetes, a disorder of imprinting. J Med Genet 39: 872–875.
-
(2002)
J Med Genet
, vol.39
, pp. 872-875
-
-
Temple, I.K.1
Shield, J.P.2
-
169
-
-
0026658524
-
Tentative assignment of a locus for Rubinstein–Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)
-
Tommerup N, van der Hagen CB, Heiberg A. 1992. Tentative assignment of a locus for Rubinstein–Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). AmJMed Genet 44: 237–241.
-
(1992)
Amjmed Genet
, vol.44
, pp. 237-241
-
-
Tommerup, N.1
Van Der Hagen, C.B.2
Heiberg, A.3
-
170
-
-
84897413565
-
Developmental epigenetic modification regulates stochastic expression of clustered protocadherin genes, generating single neuron diversity
-
Toyoda S, Kawaguchi M, Kobayashi T, Tarusawa E, Toyama T, Okano M, Oda M, Nakauchi H, Yoshimura Y, Sanbo M, et al. 2014. Developmental epigenetic modification regulates stochastic expression of clustered protocadherin genes, generating single neuron diversity. Neuron 82: 94–108.
-
(2014)
Neuron
, vol.82
, pp. 94-108
-
-
Toyoda, S.1
Kawaguchi, M.2
Kobayashi, T.3
Tarusawa, E.4
Toyama, T.5
Okano, M.6
Oda, M.7
Nakauchi, H.8
Yoshimura, Y.9
Sanbo, M.10
-
171
-
-
0032837539
-
Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader–Willi syndrome
-
Tsai TF, Jiang YH, Bressler J, Armstrong D, Beaudet AL. 1999. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader–Willi syndrome. Hum Mol Genet 8: 1357–1364.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1357-1364
-
-
Tsai, T.F.1
Jiang, Y.H.2
Bressler, J.3
Armstrong, D.4
Beaudet, A.L.5
-
172
-
-
68549087008
-
Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MeCP2
-
Tsujimura K, Abematsu M, Kohyama J, Namihira M, Nakashima K. 2009. Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MeCP2. Exp Neurol 219: 104–111.
-
(2009)
Exp Neurol
, vol.219
, pp. 104-111
-
-
Tsujimura, K.1
Abematsu, M.2
Kohyama, J.3
Namihira, M.4
Nakashima, K.5
-
173
-
-
0033933366
-
DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients
-
Tuck-Muller CM, Narayan A, Tsien F, Smeets DF, Sawyer J, Fiala ES, Sohn OS, Ehrlich M. 2000. DNA hypomethylation and unusual chromosome instability in cell lines from ICF syndrome patients. Cytogenet Cell Genet 89: 121–128.
-
(2000)
Cytogenet Cell Genet
, vol.89
, pp. 121-128
-
-
Tuck-Muller, C.M.1
Narayan, A.2
Tsien, F.3
Smeets, D.F.4
Sawyer, J.5
Fiala, E.S.6
Sohn, O.S.7
Ehrlich, M.8
-
174
-
-
1642377315
-
Molecular basis of facioscapulohumeral muscular dystrophy
-
Tupler R, Gabellini D. 2004. Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol Life Sci 61: 557–566.
-
(2004)
Cell Mol Life Sci
, vol.61
, pp. 557-566
-
-
Tupler, R.1
Gabellini, D.2
-
175
-
-
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. 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.
-
(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
-
176
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, et al. 2005. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. AmJ Hum Genet 77: 442–453.
-
(2005)
Amj Hum Genet
, vol.77
, pp. 442-453
-
-
Van Esch, H.1
Bauters, M.2
Ignatius, J.3
Jansen, M.4
Raynaud, M.5
Hollanders, K.6
Lugtenberg, D.7
Bienvenu, T.8
Jensen, L.R.9
Gecz, J.10
-
177
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizutti A, Reiner O, Richards S, Victoria MF, Zhang R, et al. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905–914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.5
Pizutti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, R.10
-
178
-
-
0030115629
-
XNP mutation in a large family with Juberg-Marsidi syndrome
-
Villard L, Gecz J, Mattei JF, Fontes M, Saugier-Veber P, Munnich A, Lyonnet S. 1996. XNP mutation in a large family with Juberg-Marsidi syndrome. Nat Genet 12: 359–360.
-
(1996)
Nat Genet
, vol.12
, pp. 359-360
-
-
Villard, L.1
Gecz, J.2
Mattei, J.F.3
Fontes, M.4
Saugier-Veber, P.5
Munnich, A.6
Lyonnet, S.7
-
179
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
-
Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, et al. 1999. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 65: 1520–1529.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1520-1529
-
-
Wan, M.1
Lee, S.S.2
Zhang, X.3
Houwink-Manville, I.4
Song, H.R.5
Amir, R.E.6
Budden, S.7
Naidu, S.8
Pereira, J.L.9
Lo, I.F.10
-
180
-
-
79960416688
-
MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan
-
Ward CS, Arvide EM, Huang TW, Yoo J, Noebels JL, Neul JL. 2011. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. J Neurosci 31: 10359–10370.
-
(2011)
J Neurosci
, vol.31
, pp. 10359-10370
-
-
Ward, C.S.1
Arvide, E.M.2
Huang, T.W.3
Yoo, J.4
Noebels, J.L.5
Neul, J.L.6
-
181
-
-
84872063385
-
Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry
-
Ward RL, Dobbins T, Lindor NM, Rapkins RW, Hitchins MP. 2012. Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. Genet Med 15: 25–35.
-
(2012)
Genet Med
, vol.15
, pp. 25-35
-
-
Ward, R.L.1
Dobbins, T.2
Lindor, N.M.3
Rapkins, R.W.4
Hitchins, M.P.5
-
183
-
-
0043093697
-
Transposable elements: Targets for early nutritional effects on epigenetic gene regulation
-
Waterland RA, Jirtle RL. 2003. Transposable elements: Targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol 23: 5293–5300.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 5293-5300
-
-
Waterland, R.A.1
Jirtle, R.L.2
-
184
-
-
0003023429
-
The hemoglobinopathies
-
(ed. Scriver CR, Beaudet AL, Sly WS, et al.), McGraw-Hill, New York
-
Weatherall DJ, Clegg MB, Higgs DR, Wood WG. 2001. The hemoglobinopathies. In The metabolic and molecular bases of inherited disease (ed. Scriver CR, Beaudet AL, Sly WS, et al.), pp. 4571–4636. McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 4571-4636
-
-
Weatherall, D.J.1
Clegg, M.B.2
Higgs, D.R.3
Wood, W.G.4
-
185
-
-
3342989681
-
Epigenetic programming by maternal behavior
-
Weaver IC, Cervoni N, Champagne FA, D’Alessio AC, Sharma S, Seckl JR, Dymov S, Szyf M, Meaney MJ. 2004. Epigenetic programming by maternal behavior. Nat Neurosci 7: 847–854.
-
(2004)
Nat Neurosci
, vol.7
, pp. 847-854
-
-
Weaver, I.C.1
Cervoni, N.2
Champagne, F.A.3
D’Alessio, A.C.4
Sharma, S.5
Seckl, J.R.6
Dymov, S.7
Szyf, M.8
Meaney, M.J.9
-
186
-
-
0027289089
-
Molecular characterization of cytogenetic alterations associated with the Beckwith–Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
-
Weksberg R, Teshima I, Williams BR, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DA, et al. 1993. Molecular characterization of cytogenetic alterations associated with the Beckwith–Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum Mol Genet 2: 549–556.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 549-556
-
-
Weksberg, R.1
Teshima, I.2
Williams, B.R.3
Greenberg, C.R.4
Pueschel, S.M.5
Chernos, J.E.6
Fowlow, S.B.7
Hoyme, E.8
Erson, I.J.9
Whiteman, D.A.10
-
187
-
-
18244369516
-
Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
-
Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, et al. 2001. Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet 10: 2989–3000.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2989-3000
-
-
Weksberg, R.1
Nishikawa, J.2
Caluseriu, O.3
Fei, Y.L.4
Shuman, C.5
Wei, C.6
Steele, L.7
Cameron, J.8
Smith, A.9
Ambus, I.10
-
188
-
-
0037389185
-
Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development
-
Weksberg R, Smith AC, Squire J, Sadowski P. 2003. Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 12: R61–R68.
-
(2003)
Hum Mol Genet
, vol.12
, pp. R61-R68
-
-
Weksberg, R.1
Smith, A.C.2
Squire, J.3
Sadowski, P.4
-
189
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al. 1992. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2: 26–30.
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.N.4
Wright, T.J.5
Dauwerse, H.G.6
Gruter, A.M.7
Hofker, M.H.8
Moerer, P.9
Williamson, R.10
-
190
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
-
Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, Van Unen L, Tassone F, Hoogeveen AT, et al. 2003. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 12: 949–959.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
Holstege, J.4
Severijnen, L.A.5
Nieuwenhuizen, I.M.6
Schrier, M.7
Van Unen, L.8
Tassone, F.9
Hoogeveen, A.T.10
-
191
-
-
0031873353
-
Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice
-
Wolff GL, Kodell RL, Moore SR, Cooney CA. 1998. Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice. Faseb J 12: 949–957.
-
(1998)
Faseb J
, vol.12
, pp. 949-957
-
-
Wolff, G.L.1
Kodell, R.L.2
Moore, S.R.3
Cooney, C.A.4
-
192
-
-
0033547330
-
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
-
Xu GL, Bestor TH, Bourc’his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Pequignot E. 1999. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402: 187–191.
-
(1999)
Nature
, vol.402
, pp. 187-191
-
-
Xu, G.L.1
Bestor, T.H.2
Bourc’His, D.3
Hsieh, C.L.4
Tommerup, N.5
Bugge, M.6
Hulten, M.7
Qu, X.8
Russo, J.J.9
Viegas-Pequignot, E.10
-
193
-
-
37649022627
-
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
-
Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, Nagarajan RP, Thatcher KN, Farnham PJ, Lasalle JM. 2007. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci 104: 19416–19421.
-
(2007)
Proc Natl Acad Sci
, vol.104
, pp. 19416-19421
-
-
Yasui, D.H.1
Peddada, S.2
Bieda, M.C.3
Vallero, R.O.4
Hogart, A.5
Nagarajan, R.P.6
Thatcher, K.N.7
Farnham, P.J.8
Lasalle, J.M.9
-
194
-
-
18444414277
-
Expanding phenotype of XNP mutations: Mild to moderate mental retardation
-
Yntema HG, Poppelaars FA, Derksen E, Oudakker AR, van Roosmalen T, Jacobs A, Obbema H, Brunner HG, Hamel BC, van Bokhoven H. 2002. Expanding phenotype of XNP mutations: Mild to moderate mental retardation. Am J Med Genet 110: 243–247.
-
(2002)
Am J Med Genet
, vol.110
, pp. 243-247
-
-
Yntema, H.G.1
Poppelaars, F.A.2
Derksen, E.3
Oudakker, A.R.4
Van Roosmalen, T.5
Jacobs, A.6
Obbema, H.7
Brunner, H.G.8
Hamel, B.C.9
Van Bokhoven, H.10
-
195
-
-
0036120278
-
Rett syndrome: Clinical manifestations in males with MECP2 mutations
-
Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N, Shomrat R, Orr-Urtreger A. 2002. Rett syndrome: Clinical manifestations in males with MECP2 mutations. J Child Neurol 17: 20–24.
-
(2002)
J Child Neurol
, vol.17
, pp. 20-24
-
-
Zeev, B.B.1
Yaron, Y.2
Schanen, N.C.3
Wolf, H.4
Brandt, N.5
Ginot, N.6
Shomrat, R.7
Orr-Urtreger, A.8
-
196
-
-
84940873637
-
Comprehensive catalog of currently documented histone modifications
-
Zhao Y, Garcia BA. 2014. Comprehensive catalog of currently documented histone modifications. Cold Spring Harb Perspect Biol doi: 10.1101/ cshperspect.a025064.
-
(2014)
Cold Spring Harb Perspect Biol
-
-
Zhao, Y.1
Garcia, B.A.2
|