-
1
-
-
84892371264
-
Beckwith-Wiedemann and Russell-Silver syndromes: from new molecular insights to the comprehension of imprinting regulation
-
Azzi S, Abi Habib W, Netchine I. 2014. Beckwith-Wiedemann and Russell-Silver syndromes: from new molecular insights to the comprehension of imprinting regulation. Curr Opin Endocrinol Diabetes Obes 21:30-38.
-
(2014)
Curr Opin Endocrinol Diabetes Obes
, vol.21
, pp. 30-38
-
-
Azzi, S.1
Abi Habib, W.2
Netchine, I.3
-
2
-
-
84903723489
-
Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms
-
Azzi S, Brioude F, Le Bouc Y, Netchine I. 2014. Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms. Curr Pharm Des 20:1751-1763.
-
(2014)
Curr Pharm Des
, vol.20
, pp. 1751-1763
-
-
Azzi, S.1
Brioude, F.2
Le Bouc, Y.3
Netchine, I.4
-
3
-
-
77954664046
-
Lessons from imprinted multilocus loss of methylation in human syndromes: a step toward understanding the mechanisms underlying these complex diseases
-
Azzi S, Rossignol S, Le Bouc Y, Netchine I. 2010. Lessons from imprinted multilocus loss of methylation in human syndromes: a step toward understanding the mechanisms underlying these complex diseases. Epigenetics 5:373-377.
-
(2010)
Epigenetics
, vol.5
, pp. 373-377
-
-
Azzi, S.1
Rossignol, S.2
Le Bouc, Y.3
Netchine, I.4
-
4
-
-
70450162112
-
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
-
Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, LeBouc Y, Netchine I. 2009. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 18:4724-4733.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4724-4733
-
-
Azzi, S.1
Rossignol, S.2
Steunou, V.3
Sas, T.4
Thibaud, N.5
Danton, F.6
Le Jule, M.7
Heinrichs, C.8
Cabrol, S.9
Gicquel, C.10
LeBouc, Y.11
Netchine, I.12
-
5
-
-
79551551535
-
Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes
-
Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I. 2011. Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes. Hum Mutat 32:249-258.
-
(2011)
Hum Mutat
, vol.32
, pp. 249-258
-
-
Azzi, S.1
Steunou, V.2
Rousseau, A.3
Rossignol, S.4
Thibaud, N.5
Danton, F.6
Le Jule, M.7
Gicquel, C.8
Le Bouc, Y.9
Netchine, I.10
-
6
-
-
79958177916
-
Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
-
Begemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G, Markus S, Rupprecht T, Segerer H, Fricke-Otto S, Muhlenberg R, et al. 2011. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clin Genet 80:83-88.
-
(2011)
Clin Genet
, vol.80
, pp. 83-88
-
-
Begemann, M.1
Spengler, S.2
Kanber, D.3
Haake, A.4
Baudis, M.5
Leisten, I.6
Binder, G.7
Markus, S.8
Rupprecht, T.9
Segerer, H.10
Fricke-Otto, S.11
Muhlenberg, R.12
-
7
-
-
67349253397
-
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
-
Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, et al. 2009. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 17:611-619.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 611-619
-
-
Bliek, J.1
Verde, G.2
Callaway, J.3
Maas, S.M.4
De Crescenzo, A.5
Sparago, A.6
Cerrato, F.7
Russo, S.8
Ferraiuolo, S.9
Rinaldi, M.M.10
Fischetto, R.11
Lalatta, F.12
-
8
-
-
80053112538
-
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome
-
Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LM, Furquim IM, Kim CA, Vianna-Morgante AM. 2011. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. Am J Med Genet A 155A:2479-2483.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 2479-2483
-
-
Bonaldi, A.1
Mazzeu, J.F.2
Costa, S.S.3
Honjo, R.S.4
Bertola, D.R.5
Albano, L.M.6
Furquim, I.M.7
Kim, C.A.8
Vianna-Morgante, A.M.9
-
9
-
-
58149506281
-
Transcription is required for establishment of germline methylation marks at imprinted genes
-
Chotalia M, Smallwood SA, Ruf N, Dawson C, Lucifero D, Frontera M, James K, Dean W, Kelsey G. 2009. Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev 23:105-117.
-
(2009)
Genes Dev
, vol.23
, pp. 105-117
-
-
Chotalia, M.1
Smallwood, S.A.2
Ruf, N.3
Dawson, C.4
Lucifero, D.5
Frontera, M.6
James, K.7
Dean, W.8
Kelsey, G.9
-
10
-
-
56049114840
-
DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation
-
Cirio MC, Martel J, Mann M, Toppings M, Bartolomei M, Trasler J, Chaillet JR. 2008. DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation. Dev Biol 324:139-150.
-
(2008)
Dev Biol
, vol.324
, pp. 139-150
-
-
Cirio, M.C.1
Martel, J.2
Mann, M.3
Toppings, M.4
Bartolomei, M.5
Trasler, J.6
Chaillet, J.R.7
-
11
-
-
84875549355
-
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes
-
Court F, Martin-Trujillo A, Romanelli V, Garin I, Iglesias-Platas I, Salafsky I, Guitart M, Perez de Nanclares G, Lapunzina P, Monk D. 2013. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat 34:595-602.
-
(2013)
Hum Mutat
, vol.34
, pp. 595-602
-
-
Court, F.1
Martin-Trujillo, A.2
Romanelli, V.3
Garin, I.4
Iglesias-Platas, I.5
Salafsky, I.6
Guitart, M.7
Perez de Nanclares, G.8
Lapunzina, P.9
Monk, D.10
-
12
-
-
84898758414
-
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
-
Court F, Tayama C, Romanelli V, Martin-Trujillo A, Iglesias-Platas I, Okamura K, Sugahara N, Simon C, Moore H, Harness JV, Keirstead H, Sanchez-Mut JV, et al. 2014. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res 24:554-569.
-
(2014)
Genome Res
, vol.24
, pp. 554-569
-
-
Court, F.1
Tayama, C.2
Romanelli, V.3
Martin-Trujillo, A.4
Iglesias-Platas, I.5
Okamura, K.6
Sugahara, N.7
Simon, C.8
Moore, H.9
Harness, J.V.10
Keirstead, H.11
Sanchez-Mut, J.V.12
-
13
-
-
84873057174
-
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
-
De Crescenzo A, Sparago A, Cerrato F, Palumbo O, Carella M, Miceli M, Bronshtein M, Riccio A, Yaron Y. 2013. Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction. J Med Genet 50:99-103.
-
(2013)
J Med Genet
, vol.50
, pp. 99-103
-
-
De Crescenzo, A.1
Sparago, A.2
Cerrato, F.3
Palumbo, O.4
Carella, M.5
Miceli, M.6
Bronshtein, M.7
Riccio, A.8
Yaron, Y.9
-
14
-
-
84868613969
-
Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted loci in Silver-Russell syndrome
-
Dias RP, Bogdarina I, Cazier JB, Buchanan C, Donaldson MC, Johnston LB, Hokken-Koelega AC, Clark AJ. 2012. Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted loci in Silver-Russell syndrome. J Clin Endocrinol Metab 97:E2188-E2193.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E2188-E2193
-
-
Dias, R.P.1
Bogdarina, I.2
Cazier, J.B.3
Buchanan, C.4
Donaldson, M.C.5
Johnston, L.B.6
Hokken-Koelega, A.C.7
Clark, A.J.8
-
15
-
-
84896327297
-
Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes
-
Docherty LE, Rezwan FI, Poole RL, Jagoe H, Lake H, Lockett GA, Arshad H, Wilson DI, Holloway JW, Temple IK, Mackay DJ. 2014. Genome-wide DNA methylation analysis of patients with imprinting disorders identifies differentially methylated regions associated with novel candidate imprinted genes. J Med Genet 51:229-238.
-
(2014)
J Med Genet
, vol.51
, pp. 229-238
-
-
Docherty, L.E.1
Rezwan, F.I.2
Poole, R.L.3
Jagoe, H.4
Lake, H.5
Lockett, G.A.6
Arshad, H.7
Wilson, D.I.8
Holloway, J.W.9
Temple, I.K.10
Mackay, D.J.11
-
18
-
-
84875302195
-
Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome
-
Fuke T, Mizuno S, Nagai T, Hasegawa T, Horikawa R, Miyoshi Y, Muroya K, Kondoh T, Numakura C, Sato S, Nakabayashi K, Tayama C, et al. 2013. Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. PLoS One 8:e60105.
-
(2013)
PLoS One
, vol.8
, pp. e60105
-
-
Fuke, T.1
Mizuno, S.2
Nagai, T.3
Hasegawa, T.4
Horikawa, R.5
Miyoshi, Y.6
Muroya, K.7
Kondoh, T.8
Numakura, C.9
Sato, S.10
Nakabayashi, K.11
Tayama, C.12
-
19
-
-
70350138340
-
H19 acts as a trans regulator of the imprinted gene network controlling growth in mice
-
Gabory A, Ripoche MA, Le Digarcher A, Watrin F, Ziyyat A, Forne T, Jammes H, Ainscough JF, Surani MA, Journot L, Dandolo L. 2009. H19 acts as a trans regulator of the imprinted gene network controlling growth in mice. Development 136:3413-3421.
-
(2009)
Development
, vol.136
, pp. 3413-3421
-
-
Gabory, A.1
Ripoche, M.A.2
Le Digarcher, A.3
Watrin, F.4
Ziyyat, A.5
Forne, T.6
Jammes, H.7
Ainscough, J.F.8
Surani, M.A.9
Journot, L.10
Dandolo, L.11
-
20
-
-
0034967806
-
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome
-
Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. 2001. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 9:409-418.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 409-418
-
-
Gaston, V.1
Le Bouc, Y.2
Soupre, V.3
Burglen, L.4
Donadieu, J.5
Oro, H.6
Audry, G.7
Vazquez, M.P.8
Gicquel, C.9
-
21
-
-
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, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. 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
Le Merrer, M.9
Burglen, L.10
Bertrand, A.M.11
Netchine, I.12
Le Bouc, Y.13
-
22
-
-
0022253232
-
Purification of DNA from formaldehyde fixed and paraffin embedded human tissue
-
Goelz SE, Hamilton SR, Vogelstein B. 1985. Purification of DNA from formaldehyde fixed and paraffin embedded human tissue. Biochem Biophys Res Commun 130:118-126.
-
(1985)
Biochem Biophys Res Commun
, vol.130
, pp. 118-126
-
-
Goelz, S.E.1
Hamilton, S.R.2
Vogelstein, B.3
-
24
-
-
84878107771
-
The role of imprinted genes in humans
-
Ishida M, Moore GE. 2012. The role of imprinted genes in humans. Mol Aspects Med 34:826-840.
-
(2012)
Mol Aspects Med
, vol.34
, pp. 826-840
-
-
Ishida, M.1
Moore, G.E.2
-
25
-
-
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, Matsuoka K, Takahashi T, 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
Matsuoka, K.11
Takahashi, T.12
-
26
-
-
84858283030
-
Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome
-
Kannenberg K, Urban C, Binder G. 2012a. Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome. Clin Genet 81:366-377.
-
(2012)
Clin Genet
, vol.81
, pp. 366-377
-
-
Kannenberg, K.1
Urban, C.2
Binder, G.3
-
27
-
-
84883826863
-
IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome
-
Kannenberg K, Weber K, Binder C, Urban C, Kirschner HJ, Binder G. 2012b. IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome. Clin Epigenetics 4:15.
-
(2012)
Clin Epigenetics
, vol.4
, pp. 15
-
-
Kannenberg, K.1
Weber, K.2
Binder, C.3
Urban, C.4
Kirschner, H.J.5
Binder, G.6
-
28
-
-
84885385027
-
SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy
-
Keren B, Chantot-Bastaraud S, Brioude F, Mach C, Fonteneau E, Azzi S, Depienne C, Brice A, Netchine I, Le Bouc Y, Siffroi JP, Rossignol S. 2013. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. Eur J Med Genet 56:546-550.
-
(2013)
Eur J Med Genet
, vol.56
, pp. 546-550
-
-
Keren, B.1
Chantot-Bastaraud, S.2
Brioude, F.3
Mach, C.4
Fonteneau, E.5
Azzi, S.6
Depienne, C.7
Brice, A.8
Netchine, I.9
Le Bouc, Y.10
Siffroi, J.P.11
Rossignol, S.12
-
29
-
-
0031687985
-
Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
-
Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA. 1998. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nat Genet 20:163-169.
-
(1998)
Nat Genet
, vol.20
, pp. 163-169
-
-
Lefebvre, L.1
Viville, S.2
Barton, S.C.3
Ishino, F.4
Keverne, E.B.5
Surani, M.A.6
-
30
-
-
61449159829
-
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
-
Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER. 2009. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod 24:741-747.
-
(2009)
Hum Reprod
, vol.24
, pp. 741-747
-
-
Lim, D.1
Bowdin, S.C.2
Tee, L.3
Kirby, G.A.4
Blair, E.5
Fryer, A.6
Lam, W.7
Oley, C.8
Cole, T.9
Brueton, L.A.10
Reik, W.11
Macdonald, F.12
Maher, E.R.13
-
31
-
-
84898935560
-
Predicting DNA methylation level across human tissues
-
Ma B, Wilker EH, Willis-Owen SA, Byun HM, Wong KC, Motta V, Baccarelli AA, Schwartz J, Cookson WO, Khabbaz K, Mittleman MA, Moffatt MF, Liang L. 2014. Predicting DNA methylation level across human tissues. Nucleic Acids Res 42:3515-3528.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 3515-3528
-
-
Ma, B.1
Wilker, E.H.2
Willis-Owen, S.A.3
Byun, H.M.4
Wong, K.C.5
Motta, V.6
Baccarelli, A.A.7
Schwartz, J.8
Cookson, W.O.9
Khabbaz, K.10
Mittleman, M.A.11
Moffatt, M.F.12
Liang, L.13
-
32
-
-
33746972820
-
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
-
Mackay DJ, Boonen SE, Clayton-Smith J, Goodship J, Hahnemann JM, Kant SG, Njolstad PR, Robin NH, Robinson DO, Siebert R, Shield JP, White HE, Temple IK. 2006. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 120:262-269.
-
(2006)
Hum Genet
, vol.120
, pp. 262-269
-
-
Mackay, D.J.1
Boonen, S.E.2
Clayton-Smith, J.3
Goodship, J.4
Hahnemann, J.M.5
Kant, S.G.6
Njolstad, P.R.7
Robin, N.H.8
Robinson, D.O.9
Siebert, R.10
Shield, J.P.11
White, H.E.12
Temple, I.K.13
-
33
-
-
48349092985
-
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
-
Mackay DJ, Callaway JL, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, Hahnemann JM, Kordonouri O, et al. 2008. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 40:949-951.
-
(2008)
Nat Genet
, vol.40
, pp. 949-951
-
-
Mackay, D.J.1
Callaway, J.L.2
Marks, S.M.3
White, H.E.4
Acerini, C.L.5
Boonen, S.E.6
Dayanikli, P.7
Firth, H.V.8
Goodship, J.A.9
Haemers, A.P.10
Hahnemann, J.M.11
Kordonouri, O.12
-
34
-
-
84880509448
-
Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b
-
Maupetit-Mehouas S, Azzi S, Steunou V, Sakakini N, Silve C, Reynes C, Perez de Nanclares G, Keren B, Chantot S, Barlier A, Linglart A, Netchine I. 2013. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b. Hum Mutat 34:1172-1180.
-
(2013)
Hum Mutat
, vol.34
, pp. 1172-1180
-
-
Maupetit-Mehouas, S.1
Azzi, S.2
Steunou, V.3
Sakakini, N.4
Silve, C.5
Reynes, C.6
Perez de Nanclares, G.7
Keren, B.8
Chantot, S.9
Barlier, A.10
Linglart, A.11
Netchine, I.12
-
35
-
-
63449130373
-
Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann syndrome)
-
Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER. 2009. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann syndrome). PLoS Genet 5:e1000423.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000423
-
-
Meyer, E.1
Lim, D.2
Pasha, S.3
Tee, L.J.4
Rahman, F.5
Yates, J.R.6
Woods, C.G.7
Reik, W.8
Maher, E.R.9
-
36
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
37
-
-
84890828236
-
H19 lncRNA controls gene expression of the imprinted gene network by recruiting MBD1
-
Monnier P, Martinet C, Pontis J, Stancheva I, Ait-Si-Ali S, Dandolo L. 2013. H19 lncRNA controls gene expression of the imprinted gene network by recruiting MBD1. Proc Natl Acad Sci USA 110:20693-20698.
-
(2013)
Proc Natl Acad Sci USA
, vol.110
, pp. 20693-20698
-
-
Monnier, P.1
Martinet, C.2
Pontis, J.3
Stancheva, I.4
Ait-Si-Ali, S.5
Dandolo, L.6
-
38
-
-
33845885282
-
PGC7/Stella protects against DNA demethylation in early embryogenesis
-
Nakamura T, Arai Y, Umehara H, Masuhara M, Kimura T, Taniguchi H, Sekimoto T, Ikawa M, Yoneda Y, Okabe M, Tanaka S, Shiota K, Nakano T. 2007. PGC7/Stella protects against DNA demethylation in early embryogenesis. Nat Cell Biol 9:64-71.
-
(2007)
Nat Cell Biol
, vol.9
, pp. 64-71
-
-
Nakamura, T.1
Arai, Y.2
Umehara, H.3
Masuhara, M.4
Kimura, T.5
Taniguchi, H.6
Sekimoto, T.7
Ikawa, M.8
Yoneda, Y.9
Okabe, M.10
Tanaka, S.11
Shiota, K.12
Nakano, T.13
-
39
-
-
8444240032
-
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
-
Nazlican H, Zeschnigk M, Claussen U, Michel S, Boehringer S, Gillessen-Kaesbach G, Buiting K, Horsthemke B. 2004. Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum Mol Genet 13:2547-2555.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2547-2555
-
-
Nazlican, H.1
Zeschnigk, M.2
Claussen, U.3
Michel, S.4
Boehringer, S.5
Gillessen-Kaesbach, G.6
Buiting, K.7
Horsthemke, B.8
-
40
-
-
34547764390
-
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations
-
Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, et al. 2007. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. J Clin Endocrinol Metab 92:3148-3154.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3148-3154
-
-
Netchine, I.1
Rossignol, S.2
Dufourg, M.N.3
Azzi, S.4
Rousseau, A.5
Perin, L.6
Houang, M.7
Steunou, V.8
Esteva, B.9
Thibaud, N.10
Demay, M.C.11
Danton, F.12
-
41
-
-
84861990687
-
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
-
Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo C, Fernandez-Rebollo E, Martinez F, Lapunzina P, de Nanclares GP. 2012a. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. J Clin Endocrinol Metab 97:E1060-E1067.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E1060-E1067
-
-
Perez-Nanclares, G.1
Romanelli, V.2
Mayo, S.3
Garin, I.4
Zazo, C.5
Fernandez-Rebollo, E.6
Martinez, F.7
Lapunzina, P.8
de Nanclares, G.P.9
-
42
-
-
84861990687
-
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus
-
Perez-Nanclares G, Romanelli V, Mayo S, Garin I, Zazo C, Fernandez-Rebollo E, Martinez F, Lapunzina P, de Nanclares GP. 2012b. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. J Clin Endocrinol Metab 97:E1060-E1067.
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E1060-E1067
-
-
Perez-Nanclares, G.1
Romanelli, V.2
Mayo, S.3
Garin, I.4
Zazo, C.5
Fernandez-Rebollo, E.6
Martinez, F.7
Lapunzina, P.8
de Nanclares, G.P.9
-
43
-
-
84881661981
-
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
-
International Clinical Imprinting Consortium
-
Poole RL, Docherty LE, Al Sayegh A, Caliebe A, Turner C, Baple E, Wakeling E, Harrison L, Lehmann A, Temple IK, Mackay DJ; International Clinical Imprinting Consortium. 2013. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A 161:2174-2182.
-
(2013)
Am J Med Genet A
, vol.161
, pp. 2174-2182
-
-
Poole, R.L.1
Docherty, L.E.2
Al Sayegh, A.3
Caliebe, A.4
Turner, C.5
Baple, E.6
Wakeling, E.7
Harrison, L.8
Lehmann, A.9
Temple, I.K.10
Mackay, D.J.11
-
44
-
-
0038277783
-
The genetics of the Silver-Russell syndrome
-
Preece MA. 2002. The genetics of the Silver-Russell syndrome. Rev Endocr Metab Disord 3:369-379.
-
(2002)
Rev Endocr Metab Disord
, vol.3
, pp. 369-379
-
-
Preece, M.A.1
-
45
-
-
22844457491
-
DNA methylation and human disease
-
Robertson KD. 2005. DNA methylation and human disease. Nat Rev Genet 6:597-610.
-
(2005)
Nat Rev Genet
, vol.6
, pp. 597-610
-
-
Robertson, K.D.1
-
47
-
-
33846157180
-
The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
-
Rossignol S, Steunou V, Chalas C, Kerjean A, Rigolet M, Viegas-Pequignot E, Jouannet P, Le Bouc Y, Gicquel C. 2006. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet 43:902-907.
-
(2006)
J Med Genet
, vol.43
, pp. 902-907
-
-
Rossignol, S.1
Steunou, V.2
Chalas, C.3
Kerjean, A.4
Rigolet, M.5
Viegas-Pequignot, E.6
Jouannet, P.7
Le Bouc, Y.8
Gicquel, C.9
-
48
-
-
33846461696
-
The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
-
Schonherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. 2007. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J Med Genet 44:59-63.
-
(2007)
J Med Genet
, vol.44
, pp. 59-63
-
-
Schonherr, N.1
Meyer, E.2
Roos, A.3
Schmidt, A.4
Wollmann, H.A.5
Eggermann, T.6
-
49
-
-
0037396735
-
Identification of novel imprinted genes in a genome-wide screen for maternal methylation
-
Smith RJ, Dean W, Konfortova G, Kelsey G. 2003. Identification of novel imprinted genes in a genome-wide screen for maternal methylation. Genome Res 13:558-569.
-
(2003)
Genome Res
, vol.13
, pp. 558-569
-
-
Smith, R.J.1
Dean, W.2
Konfortova, G.3
Kelsey, G.4
-
50
-
-
84894749486
-
Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology
-
Tee L, Lim DH, Dias RP, Baudement MO, Slater AA, Kirby G, Hancocks T, Stewart H, Hardy C, Macdonald F, Maher ER. 2013. Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. Clin Epigenetics 5:23.
-
(2013)
Clin Epigenetics
, vol.5
, pp. 23
-
-
Tee, L.1
Lim, D.H.2
Dias, R.P.3
Baudement, M.O.4
Slater, A.A.5
Kirby, G.6
Hancocks, T.7
Stewart, H.8
Hardy, C.9
Macdonald, F.10
Maher, E.R.11
-
51
-
-
77952671659
-
Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
-
Turner CL, Mackay DM, Callaway JL, Docherty LE, Poole RL, Bullman H, Lever M, Castle BM, Kivuva EC, Turnpenny PD, Mehta SG, Mansour S, et al. 2010. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. Eur J Hum Genet 18:648-655.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 648-655
-
-
Turner, C.L.1
Mackay, D.M.2
Callaway, J.L.3
Docherty, L.E.4
Poole, R.L.5
Bullman, H.6
Lever, M.7
Castle, B.M.8
Kivuva, E.C.9
Turnpenny, P.D.10
Mehta, S.G.11
Mansour, S.12
-
52
-
-
33750470266
-
Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth
-
Varrault A, Gueydan C, Delalbre A, Bellmann A, Houssami S, Aknin C, Severac D, Chotard L, Kahli M, Le Digarcher A, Pavlidis P, Journot L. 2006. Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell 11:711-722.
-
(2006)
Dev Cell
, vol.11
, pp. 711-722
-
-
Varrault, A.1
Gueydan, C.2
Delalbre, A.3
Bellmann, A.4
Houssami, S.5
Aknin, C.6
Severac, D.7
Chotard, L.8
Kahli, M.9
Le Digarcher, A.10
Pavlidis, P.11
Journot, L.12
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