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Volumn 20, Issue 11, 2014, Pages 1751-1763

Human imprinting anomalies in fetal and childhood growth disorders: Clinical implications and molecular mechanisms

Author keywords

AS; BWS; Chromosome 14 related syndromes; Epigenetic regulation; Genomic impirinting; Growth disorders; Human impriting syndrome; PHP 1b; PWS; RSS; TNDM

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 1C; DNA METHYLTRANSFERASE 3A; GROWTH FACTOR RECEPTOR BOUND PROTEIN 10; MICRORNA; NOVEL ERYTHROPOIESIS STIMULATING PROTEIN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; UNTRANSLATED RNA;

EID: 84903723489     PISSN: 13816128     EISSN: 18734286     Source Type: Journal    
DOI: 10.2174/13816128113199990525     Document Type: Article
Times cited : (13)

References (144)
  • 2
    • 0028542109 scopus 로고
    • Maternal and fetal origins of coronary heart disease
    • Barker DJ. Maternal and fetal origins of coronary heart disease, J R Coll Physicians Lond 1994; 28: 544-51.
    • (1994) J R Coll Physicians Lond , vol.28 , pp. 544-551
    • Barker, D.J.1
  • 3
    • 0037396735 scopus 로고    scopus 로고
    • Identification of novel imprinted genes in a genome-wide screen for maternal methylation
    • Smith RJ, Dean W, Konfortova G, Kelsey G. Identification of novel imprinted genes in a genome-wide screen for maternal methylation, Genome Res 202003; 13: 558-69.
    • Genome Res 202003 , vol.13 , pp. 558-569
    • Smith, R.J.1    Dean, W.2    Konfortova, G.3    Kelsey, G.4
  • 5
    • 84859519339 scopus 로고    scopus 로고
    • Global profiling of DNA methylation erasure in mouse primordial germ cells
    • Guibert S, Forne T, Weber M. Global profiling of DNA methylation erasure in mouse primordial germ cells, Genome Res 202012; 22: 633-41.
    • Genome Res 202012 , vol.22 , pp. 633-641
    • Guibert, S.1    Forne, T.2    Weber, M.3
  • 6
    • 0025147087 scopus 로고
    • Primordial germ cells in the mouse embryo during gastrulation
    • Ginsburg M, Snow MH, McLaren A. Primordial germ cells in the mouse embryo during gastrulation, Development 1990; 110: 521-8.
    • (1990) Development , vol.110 , pp. 521-528
    • Ginsburg, M.1    Snow, M.H.2    McLaren, A.3
  • 7
    • 0036768615 scopus 로고    scopus 로고
    • Epigenetic reprogramming in mouse primordial germ cells
    • Hajkova P, Erhardt S, Lane N, et al. Epigenetic reprogramming in mouse primordial germ cells, Mech Dev 202002;2002; 117: 15-23.
    • (2002) Mech Dev 202002 , Issue.117 , pp. 15-23
    • Hajkova, P.1    Erhardt, S.2    Lane, N.3
  • 8
    • 0036275755 scopus 로고    scopus 로고
    • Allele-specific expression of imprinted genes in mouse migratory primordial germ cells
    • Szabo PE, Hubner K, Scholer H, Mann JR. Allele-specific expression of imprinted genes in mouse migratory primordial germ cells, Mech Dev 2002; 115: 157-60.
    • (2002) Mech Dev , vol.115 , pp. 157-160
    • Szabo, P.E.1    Hubner, K.2    Scholer, H.3    Mann, J.R.4
  • 9
    • 0036333598 scopus 로고    scopus 로고
    • Erasing genomic imprinting memory in mouse clone embryos produced from day 11.5 primordial germ cells
    • Lee J, Inoue K, Ono R, et al. Erasing genomic imprinting memory in mouse clone embryos produced from day 11.5 primordial germ cells, Development 2002; 129: 1807-17.
    • (2002) Development , vol.129 , pp. 1807-1817
    • Lee, J.1    Inoue, K.2    Ono, R.3
  • 10
    • 84871702441 scopus 로고    scopus 로고
    • The Dynamics of Genome-wide DNA Methylation Reprogramming in Mouse Primordial Germ Cells
    • Seisenberger S, Andrews S, Krueger F, et al. The Dynamics of Genome-wide DNA Methylation Reprogramming in Mouse Primordial Germ Cells, Mol Cell 202012; 48: 849-62.
    • Mol Cell 202012 , vol.48 , pp. 849-862
    • Seisenberger, S.1    Andrews, S.2    Krueger, F.3
  • 11
    • 84876558123 scopus 로고    scopus 로고
    • Reprogramming DNA methylation in the mammalian life cycle: Building and breaking epigenetic barriers
    • Seisenberger S, Peat JR, Hore TA, et al. Reprogramming DNA methylation in the mammalian life cycle: building and breaking epigenetic barriers, Philos Trans R Soc Lond B Biol Sci 2013; 368: 20110330.
    • (2013) Philos Trans R Soc Lond B Biol Sci , vol.368 , pp. 20110330
    • Seisenberger, S.1    Peat, J.R.2    Hore, T.A.3
  • 12
    • 34548705374 scopus 로고    scopus 로고
    • Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse
    • Kato Y, Kaneda M, Hata K, et al. Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse, Hum Mol Genet 202007; 16: 2272-80.
    • Hum Mol Genet 202007 , vol.16 , pp. 2272-2280
    • Kato, Y.1    Kaneda, M.2    Hata, K.3
  • 14
    • 79960926264 scopus 로고    scopus 로고
    • Dynamic CpG island methylation landscape in oocytes and preimplantation embryos
    • Smallwood SA, Tomizawa S, Krueger F, et al. Dynamic CpG island methylation landscape in oocytes and preimplantation embryos, Nat Genet 202011; 43: 811-4.
    • Nat Genet 202011 , vol.43 , pp. 811-814
    • Smallwood, S.A.1    Tomizawa, S.2    Krueger, F.3
  • 16
    • 53249098795 scopus 로고    scopus 로고
    • A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints
    • Li X, Ito M, Zhou F, et al. A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints, Dev Cell 2008; 15: 547-57.
    • (2008) Dev Cell , vol.15 , pp. 547-557
    • Li, X.1    Ito, M.2    Zhou, F.3
  • 17
    • 33751029979 scopus 로고    scopus 로고
    • The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation
    • Jelinic P, Stehle JC, Shaw P. The testis-specific factor CTCFL cooperates with the protein methyltransferase PRMT7 in H19 imprinting control region methylation, PLoS Biol 2006; 4: e355.
    • (2006) PLoS Biol , vol.4
    • Jelinic, P.1    Stehle, J.C.2    Shaw, P.3
  • 18
    • 0036145567 scopus 로고    scopus 로고
    • Dynamic reprogramming of DNA methylation in the early mouse embryo
    • Santos F, Hendrich B, Reik W, Dean W. Dynamic reprogramming of DNA methylation in the early mouse embryo, Dev Biol 2002; 241: 172-82.
    • (2002) Dev Biol , vol.241 , pp. 172-182
    • Santos, F.1    Hendrich, B.2    Reik, W.3    Dean, W.4
  • 19
    • 77953596050 scopus 로고    scopus 로고
    • Dynamic link of DNA demethylation, DNA strand breaks and repair in mouse zygotes
    • Wossidlo M, Arand J, Sebastiano V, et al. Dynamic link of DNA demethylation, DNA strand breaks and repair in mouse zygotes, Embo J 202010; 29: 1877-88.
    • Embo J 202010 , vol.29 , pp. 1877-1888
    • Wossidlo, M.1    Arand, J.2    Sebastiano, V.3
  • 20
    • 77954345408 scopus 로고    scopus 로고
    • Genome-wide reprogramming in the mouse germ line entails the base excision repair pathway
    • Hajkova P, Jeffries SJ, Lee C, et al. Genome-wide reprogramming in the mouse germ line entails the base excision repair pathway, Science 202010; 329: 78-82.
    • Science 202010 , vol.329 , pp. 78-82
    • Hajkova, P.1    Jeffries, S.J.2    Lee, C.3
  • 21
    • 75749142980 scopus 로고    scopus 로고
    • A role for the elongator complex in zygotic paternal genome demethylation
    • Okada Y, Yamagata K, Hong K, Wakayama T, Zhang Y. A role for the elongator complex in zygotic paternal genome demethylation, Nature 202010; 463: 554-8.
    • Nature 202010 , vol.463 , pp. 554-558
    • Okada, Y.1    Yamagata, K.2    Hong, K.3    Wakayama, T.4    Zhang, Y.5
  • 22
    • 79952713567 scopus 로고    scopus 로고
    • 5-Hydroxymethylcytosine in the mammalian zygote is linked with epigenetic reprogramming
    • Wossidlo M, Nakamura T, Lepikhov K, et al. 5-Hydroxymethylcytosine in the mammalian zygote is linked with epigenetic reprogramming, Nat Commun 2011; 2: 241.
    • (2011) Nat Commun , vol.2 , pp. 241
    • Wossidlo, M.1    Nakamura, T.2    Lepikhov, K.3
  • 23
    • 0035937404 scopus 로고    scopus 로고
    • Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene
    • Howell CY, Bestor TH, Ding F, et al. Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene, Cell 20 2001; 104: 829-38.
    • (2001) Cell , vol.20 , Issue.104 , pp. 829-838
    • Howell, C.Y.1    Bestor, T.H.2    Ding, F.3
  • 24
    • 33845885282 scopus 로고    scopus 로고
    • PGC7/Stella protects against DNA demethylation in early embryogenesis
    • Nakamura T, Arai Y, Umehara H, et al. PGC7/Stella protects against DNA demethylation in early embryogenesis, Nat Cell Biol 202007; 9: 64-71.
    • Nat Cell Biol 202007 , vol.9 , pp. 64-71
    • Nakamura, T.1    Arai, Y.2    Umehara, H.3
  • 25
    • 48749112915 scopus 로고    scopus 로고
    • Vezf1 regulates genomic DNA methylation through its effects on expression of DNA methyltransferase Dnmt3b
    • Gowher H, Stuhlmann H, Felsenfeld G. Vezf1 regulates genomic DNA methylation through its effects on expression of DNA methyltransferase Dnmt3b, Genes Dev 202008; 22: 2075-84.
    • Genes Dev 202008 , vol.22 , pp. 2075-2084
    • Gowher, H.1    Stuhlmann, H.2    Felsenfeld, G.3
  • 26
    • 48349092985 scopus 로고    scopus 로고
    • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    • Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57, Nat Genet 202008; 40: 949-51.
    • Nat Genet 202008 , vol.40 , pp. 949-951
    • Mackay, D.J.1    Callaway, J.L.2    Marks, S.M.3
  • 27
    • 22844457491 scopus 로고    scopus 로고
    • DNA methylation and human disease
    • Robertson KD. DNA methylation and human disease, Nat Rev Genet 2005; 6: 597-610.
    • (2005) Nat Rev Genet , vol.6 , pp. 597-610
    • Robertson, K.D.1
  • 28
    • 0035234557 scopus 로고    scopus 로고
    • Genomic imprinting: Parental influence on the genome
    • Reik W, Walter J. Genomic imprinting: parental influence on the genome, Nat Rev Genet 2001; 2: 21-32.
    • (2001) Nat Rev Genet , vol.2 , pp. 21-32
    • Reik, W.1    Walter, J.2
  • 29
    • 0342572600 scopus 로고    scopus 로고
    • Deletion of a silencer element in Igf2 results in loss of imprinting independent of H19
    • Constancia M, Dean W, Lopes S, et al. Deletion of a silencer element in Igf2 results in loss of imprinting independent of H19, Nat Genet 20 2000; 26: 203-6.
    • (2000) Nat Genet , vol.20 , Issue.26 , pp. 203-206
    • Constancia, M.1    Dean, W.2    Lopes, S.3
  • 30
    • 0027937839 scopus 로고
    • Developmental control of allelic methylation in the imprinted mouse Igf2 and H19 genes
    • Feil R, Walter J, Allen ND, Reik W. Developmental control of allelic methylation in the imprinted mouse Igf2 and H19 genes, Development 1994; 120: 2933-43.
    • (1994) Development , vol.120 , pp. 2933-2943
    • Feil, R.1    Walter, J.2    Allen, N.D.3    Reik, W.4
  • 31
    • 0036151866 scopus 로고    scopus 로고
    • Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: Implications for imprinting control from comparison with Igf2-H19
    • Takada S, Paulsen M, Tevendale M, et al. Epigenetic analysis of the Dlk1-Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2-H19, Hum Mol Genet 2002; 11: 77-86.
    • (2002) Hum Mol Genet , vol.11 , pp. 77-86
    • Takada, S.1    Paulsen, M.2    Tevendale, M.3
  • 32
    • 0033997450 scopus 로고    scopus 로고
    • The impact of genomic imprinting for neurobehavioral and developmental disorders
    • Nicholls RD. The impact of genomic imprinting for neurobehavioral and developmental disorders, J Clin Invest 2000; 105: 413-8.
    • (2000) J Clin Invest , vol.105 , pp. 413-418
    • Nicholls, R.D.1
  • 33
    • 0036323502 scopus 로고    scopus 로고
    • Physiological functions of imprinted genes
    • Tycko B, Morison IM. Physiological functions of imprinted genes, J Cell Physiol 2002; 192: 245-58.
    • (2002) J Cell Physiol , vol.192 , pp. 245-258
    • Tycko, B.1    Morison, I.M.2
  • 34
    • 78651048074 scopus 로고
    • Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins
    • Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins, Pediatrics 1953; 12: 368-76.
    • (1953) Pediatrics , vol.12 , pp. 368-376
    • Silver, H.K.1    Kiyasu, W.2    George, J.3    Deamer, W.C.4
  • 35
    • 0000771975 scopus 로고
    • A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples)
    • Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples), Proc R Soc Med 1954; 47: 1040-4.
    • (1954) Proc R Soc Med , vol.47 , pp. 1040-1044
    • Russell, A.1
  • 36
    • 34547764390 scopus 로고    scopus 로고
    • 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, et al. 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 202007; 92: 3148-54.
    • J Clin Endocrinol Metab 202007 , vol.92 , pp. 3148-3154
    • Netchine, I.1    Rossignol, S.2    Dufourg, M.N.3
  • 37
    • 0032758850 scopus 로고    scopus 로고
    • The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
    • Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria, J Med Genet 1999; 36: 837-42.
    • (1999) J Med Genet , vol.36 , pp. 837-842
    • Price, S.M.1    Stanhope, R.2    Garrett, C.3    Preece, M.A.4    Trembath, R.C.5
  • 38
    • 77949769087 scopus 로고    scopus 로고
    • Epigenetic signatures of Silver-Russell syndrome
    • Abu-Amero S, Wakeling EL, Preece M, et al. Epigenetic signatures of Silver-Russell syndrome, J Med Genet 2010; 47: 150-4.
    • (2010) J Med Genet , vol.47 , pp. 150-154
    • Abu-Amero, S.1    Wakeling, E.L.2    Preece, M.3
  • 39
    • 78149339689 scopus 로고    scopus 로고
    • Epigenotype-phenotype correlations in Silver-Russell syndrome
    • Wakeling EL, Amero SA, Alders M, et al. Epigenotype-phenotype correlations in Silver-Russell syndrome, J Med Genet 2010; 47: 760-8.
    • (2010) J Med Genet , vol.47 , pp. 760-768
    • Wakeling, E.L.1    Amero, S.A.2    Alders, M.3
  • 40
    • 0014525649 scopus 로고
    • Intrauterine growth of live-born Caucasian infants at sea level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation
    • Usher R, McLean F. Intrauterine growth of live-born Caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation, J Pediatr 1969; 74: 901-10.
    • (1969) J Pediatr , vol.74 , pp. 901-910
    • Usher, R.1    McLean, F.2
  • 41
    • 0035662379 scopus 로고    scopus 로고
    • Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions
    • Hitchins MP, Stanier P, Preece MA, Moore GE. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions, J Med Genet 2001; 38: 810-9.
    • (2001) J Med Genet , vol.38 , pp. 810-819
    • Hitchins, M.P.1    Stanier, P.2    Preece, M.A.3    Moore, G.E.4
  • 42
    • 0038277783 scopus 로고    scopus 로고
    • The genetics of the Silver-Russell syndrome
    • Preece MA. The genetics of the Silver-Russell syndrome, Rev Endocr Metab Disord 2002; 3: 369-79.
    • (2002) Rev Endocr Metab Disord , vol.3 , pp. 369-379
    • Preece, M.A.1
  • 43
    • 0032846736 scopus 로고    scopus 로고
    • Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome
    • Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK. Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome, Hum Genet 1999; 105: 273-80.
    • (1999) Hum Genet , vol.105 , pp. 273-280
    • Joyce, C.A.1    Sharp, A.2    Walker, J.M.3    Bullman, H.4    Temple, I.K.5
  • 44
    • 0033940412 scopus 로고    scopus 로고
    • Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
    • Monk D, Wakeling EL, Proud V, et al. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome, Am J Hum Genet 2000; 66: 36-46.
    • (2000) Am J Hum Genet , vol.66 , pp. 36-46
    • Monk, D.1    Wakeling, E.L.2    Proud, V.3
  • 45
    • 0035168178 scopus 로고    scopus 로고
    • A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
    • Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region, Am J Hum Genet 2001; 68: 247-53.
    • (2001) Am J Hum Genet , vol.68 , pp. 247-253
    • Hannula, K.1    Lipsanen-Nyman, M.2    Kontiokari, T.3    Kere, J.4
  • 46
    • 0033854339 scopus 로고    scopus 로고
    • Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome
    • Yoshihashi H, Maeyama K, Kosaki R, et al. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome, Am J Hum Genet 2000; 67: 476-82.
    • (2000) Am J Hum Genet , vol.67 , pp. 476-482
    • Yoshihashi, H.1    Maeyama, K.2    Kosaki, R.3
  • 47
    • 0035131431 scopus 로고    scopus 로고
    • Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome
    • Hitchins MP, Monk D, Bell GM, et al. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome, Eur J Hum Genet 2001; 9: 82-90.
    • (2001) Eur J Hum Genet , vol.9 , pp. 82-90
    • Hitchins, M.P.1    Monk, D.2    Bell, G.M.3
  • 49
    • 0038364061 scopus 로고    scopus 로고
    • Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark
    • Arnaud P, Monk D, Hitchins M, et al. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark, Hum Mol Genet 2003; 12: 1005-19.
    • (2003) Hum Mol Genet , vol.12 , pp. 1005-1019
    • Arnaud, P.1    Monk, D.2    Hitchins, M.3
  • 50
    • 0035575838 scopus 로고    scopus 로고
    • No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients
    • Kobayashi S, Uemura H, Kohda T, et al. No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients, Am J Med Genet 2001; 104: 225-31.
    • (2001) Am J Med Genet , vol.104 , pp. 225-231
    • Kobayashi, S.1    Uemura, H.2    Kohda, T.3
  • 51
    • 0031969877 scopus 로고    scopus 로고
    • Evidence against a major role of PEG1/MEST in Silver-Russell syndrome
    • Riesewijk AM, Blagitko N, Schinzel AA, et al. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome, Eur J Hum Genet 1998; 6: 114-20.
    • (1998) Eur J Hum Genet , vol.6 , pp. 114-120
    • Riesewijk, A.M.1    Blagitko, N.2    Schinzel, A.A.3
  • 52
    • 34247395327 scopus 로고    scopus 로고
    • Silver-Russell syndrome in a girl born after in vitro fertilization: Partial hypermethylation at the differentially methylated region of PEG1/MEST
    • Kagami M, Nagai T, Fukami M, Yamazawa K, Ogata T. Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST, J Assist Reprod Genet 2007; 24: 131-6.
    • (2007) J Assist Reprod Genet , vol.24 , pp. 131-136
    • Kagami, M.1    Nagai, T.2    Fukami, M.3    Yamazawa, K.4    Ogata, T.5
  • 53
    • 84856448980 scopus 로고    scopus 로고
    • Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features
    • Eggermann T, Spengler S, Begemann M, et al. Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features, Clin Genet 2012; 81: 298-300.
    • (2012) Clin Genet , vol.81 , pp. 298-300
    • Eggermann, T.1    Spengler, S.2    Begemann, M.3
  • 54
    • 30644459349 scopus 로고    scopus 로고
    • Is maternal duplication of 11p15 associated with Silver-Russell syndrome
    • Eggermann T, Meyer E, Obermann C, et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome, J Med Genet 2005; 42: e26.
    • (2005) J Med Genet , vol.42
    • Eggermann, T.1    Meyer, E.2    Obermann, C.3
  • 55
    • 0036765999 scopus 로고    scopus 로고
    • Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    • Fisher AM, Thomas NS, Cockwell A, et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation, Hum Genet 2002; 111: 290-6.
    • (2002) Hum Genet , vol.111 , pp. 290-296
    • Fisher, A.M.1    Thomas, N.S.2    Cockwell, A.3
  • 56
    • 25144454048 scopus 로고    scopus 로고
    • Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    • Gicquel C, Rossignol S, Cabrol S, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome, Nat Genet 2005; 37: 1003-7.
    • (2005) Nat Genet , vol.37 , pp. 1003-1007
    • Gicquel, C.1    Rossignol, S.2    Cabrol, S.3
  • 57
    • 33846461696 scopus 로고    scopus 로고
    • The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome
    • Schonherr N, Meyer E, Roos A, et al. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome, J Med Genet 2007; 44: 59-63.
    • (2007) J Med Genet , vol.44 , pp. 59-63
    • Schonherr, N.1    Meyer, E.2    Roos, A.3
  • 58
    • 80053112538 scopus 로고    scopus 로고
    • Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome
    • Bonaldi A, Mazzeu JF, Costa SS, et al. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome, Am J Med Genet A 155A: 2479-83.
    • Am J Med Genet A , vol.155 A , pp. 2479-2483
    • Bonaldi, A.1    Mazzeu, J.F.2    Costa, S.S.3
  • 60
    • 54049098434 scopus 로고    scopus 로고
    • Myoclonusdystonia due to maternal uniparental disomy
    • Guettard E, Portnoi MF, Lohmann-Hedrich K, et al. Myoclonusdystonia due to maternal uniparental disomy, Arch Neurol 2008; 65: 1380-5.
    • (2008) Arch Neurol , vol.65 , pp. 1380-1385
    • Guettard, E.1    Portnoi, M.F.2    Lohmann-Hedrich, K.3
  • 61
    • 0034883367 scopus 로고    scopus 로고
    • A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p
    • International Molecular Genetic Study of Autism Consortium (IMGSAC)
    • International Molecular Genetic Study of Autism Consortium (IMGSAC). A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p, Am J Hum Genet 2001; 69: 570-81.
    • (2001) Am J Hum Genet , vol.69 , pp. 570-581
  • 62
    • 33645463808 scopus 로고    scopus 로고
    • Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype
    • Bliek J, Terhal P, van den Bogaard MJ, et al. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype, Am J Hum Genet 202006; 78, 604-14.
    • Am J Hum Genet 202006 , vol.78 , pp. 604-614
    • Bliek, J.1    Terhal, P.2    van den Bogaard, M.J.3
  • 63
    • 84861569839 scopus 로고    scopus 로고
    • IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance
    • Murphy R, Ibanez L, Hattersley A, Tost J. IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance, BMC Med Genet 202012; 13: 42.
    • BMC Med Genet 202012 , vol.13 , pp. 42
    • Murphy, R.1    Ibanez, L.2    Hattersley, A.3    Tost, J.4
  • 65
    • 0034967806 scopus 로고    scopus 로고
    • 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, et al. 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 2001; 9: 409-18.
    • (2001) Eur J Hum Genet , vol.9 , pp. 409-418
    • Gaston, V.1    Le Bouc, Y.2    Soupre, V.3
  • 66
    • 0027231511 scopus 로고
    • Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome
    • Schneid H, Seurin D, Vazquez MP, et al. Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome, J Med Genet 1993: 30, 353-62.
    • (1993) J Med Genet , vol.30 , pp. 353-362
    • Schneid, H.1    Seurin, D.2    Vazquez, M.P.3
  • 67
    • 84858277940 scopus 로고    scopus 로고
    • Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes
    • Demars J, Gicquel C. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes, Clin Genet 202012; 81: 350-61.
    • Clin Genet 202012 , vol.81 , pp. 350-361
    • Demars, J.1    Gicquel, C.2
  • 68
    • 0035501557 scopus 로고    scopus 로고
    • Mutations/deletions of the WT1 gene, loss of heterozygosity on chromosome arms 11p and 11q, chromosome ploidy and histology in Wilms' tumors in Japan
    • Nakadate H, Yokomori K, Watanabe N, et al. Mutations/deletions of the WT1 gene, loss of heterozygosity on chromosome arms 11p and 11q, chromosome ploidy and histology in Wilms' tumors in Japan, Int J Cancer 2001; 94: 396-400.
    • (2001) Int J Cancer , vol.94 , pp. 396-400
    • Nakadate, H.1    Yokomori, K.2    Watanabe, N.3
  • 69
    • 25444471062 scopus 로고    scopus 로고
    • Genomic profiling maps loss of heterozygosity and defines the timing and stage dependence of epigenetic and genetic events in Wilms' tumors
    • Yuan E, Li CM, Yamashiro DJ, et al. Genomic profiling maps loss of heterozygosity and defines the timing and stage dependence of epigenetic and genetic events in Wilms' tumors, Mol Cancer Res 2005; 3: 493-502.
    • (2005) Mol Cancer Res , vol.3 , pp. 493-502
    • Yuan, E.1    Li, C.M.2    Yamashiro, D.J.3
  • 70
    • 27244436752 scopus 로고    scopus 로고
    • Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome
    • Cooper WN, Luharia A, Evans GA, et al. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome, Eur J Hum Genet 2005; 13: 1025-32.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1025-1032
    • Cooper, W.N.1    Luharia, A.2    Evans, G.A.3
  • 71
    • 33846157180 scopus 로고    scopus 로고
    • 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, et al. 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 2006; 43: 902-7.
    • (2006) J Med Genet , vol.43 , pp. 902-907
    • Rossignol, S.1    Steunou, V.2    Chalas, C.3
  • 72
    • 78650675939 scopus 로고    scopus 로고
    • Angelman syndrome: Mutations influence features in early childhood
    • Tan WH, Bacino CA, Skinner SA, et al. Angelman syndrome: Mutations influence features in early childhood, Am J Med Genet A 155A: 81-90.
    • Am J Med Genet A , vol.155 A , pp. 81-90
    • Tan, W.H.1    Bacino, C.A.2    Skinner, S.A.3
  • 73
    • 0032544019 scopus 로고    scopus 로고
    • The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
    • Hayward BE, Kamiya M, Strain L, et al. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins, Proc Natl Acad Sci U S A 1998; 95: 10038-43.
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 10038-10043
    • Hayward, B.E.1    Kamiya, M.2    Strain, L.3
  • 74
    • 9144266313 scopus 로고    scopus 로고
    • 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, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS, J Clin Invest 2003; 112: 1255-63.
    • (2003) J Clin Invest , vol.112 , pp. 1255-1263
    • Bastepe, M.1    Frohlich, L.F.2    Hendy, G.N.3
  • 75
    • 11244353640 scopus 로고    scopus 로고
    • Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
    • Bastepe M, Frohlich LF, Linglart A, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib, Nat Genet 2005; 37: 25-7.
    • (2005) Nat Genet , vol.37 , pp. 25-27
    • Bastepe, M.1    Frohlich, L.F.2    Linglart, A.3
  • 76
    • 77955387253 scopus 로고    scopus 로고
    • Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis
    • Chillambhi S, Turan S, Hwang DY, et al. Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis, J Clin Endocrinol Metab 2010; 95: 3993-4002.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 3993-4002
    • Chillambhi, S.1    Turan, S.2    Hwang, D.Y.3
  • 77
    • 84860747783 scopus 로고    scopus 로고
    • A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib
    • Richard N, Abeguile G, Coudray N, et al. A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib, J Clin Endocrinol Metab 2012; 97: E863-7.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Richard, N.1    Abeguile, G.2    Coudray, N.3
  • 78
    • 58149506281 scopus 로고    scopus 로고
    • Transcription is required for establishment of germline methylation marks at imprinted genes
    • Chotalia M, Smallwood SA, Ruf N, et al. Transcription is required for establishment of germline methylation marks at imprinted genes, Genes Dev 2009; 23: 105-17.
    • (2009) Genes Dev , vol.23 , pp. 105-117
    • Chotalia, M.1    Smallwood, S.A.2    Ruf, N.3
  • 79
    • 33845317259 scopus 로고    scopus 로고
    • Mutations in the Gs alpha gene causing hormone resistance
    • Mantovani G, Spada A. Mutations in the Gs alpha gene causing hormone resistance, Best Pract Res Clin Endocrinol Metab 2006; 20: 501-13.
    • (2006) Best Pract Res Clin Endocrinol Metab , vol.20 , pp. 501-513
    • Mantovani, G.1    Spada, A.2
  • 80
    • 42449155119 scopus 로고    scopus 로고
    • The GNAS locus and pseudohypoparathyroidism
    • Bastepe M. The GNAS locus and pseudohypoparathyroidism, Adv Exp Med Biol 2008; 626: 27-40.
    • (2008) Adv Exp Med Biol , vol.626 , pp. 27-40
    • Bastepe, M.1
  • 81
    • 34347217115 scopus 로고    scopus 로고
    • Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy
    • de Nanclares GP, Fernandez-Rebollo E, Santin I, et al. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy, J Clin Endocrinol Metab 2007; 92: 2370-3.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2370-2373
    • de Nanclares, G.P.1    Fernandez-Rebollo, E.2    Santin, I.3
  • 82
    • 17844406661 scopus 로고    scopus 로고
    • GNAS locus and pseudohypoparathyroidism
    • Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism, Horm Res 2005; 63: 65-74.
    • (2005) Horm Res , vol.63 , pp. 65-74
    • Bastepe, M.1    Juppner, H.2
  • 83
    • 36248993369 scopus 로고    scopus 로고
    • Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus
    • Linglart A, Bastepe M, Juppner H. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus, Clin Endocrinol (Oxf) 202007; 67: 822-31.
    • Clin Endocrinol (Oxf) 202007 , vol.67 , pp. 822-831
    • Linglart, A.1    Bastepe, M.2    Juppner, H.3
  • 84
    • 0032555068 scopus 로고    scopus 로고
    • hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer
    • Varrault A, Ciani E, Apiou F, et al. hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer, Proc Natl Acad Sci USA 1998; 95: 8835-40.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8835-8840
    • Varrault, A.1    Ciani, E.2    Apiou, F.3
  • 85
    • 19544365725 scopus 로고    scopus 로고
    • Zac1 is expressed in progenitor/ stem cells of the neuroectoderm and mesoderm during embryogenesis: Differential phenotype of the Zac1-expressing cells during development
    • Valente T, Junyent F, Auladell C. Zac1 is expressed in progenitor/ stem cells of the neuroectoderm and mesoderm during embryogenesis: differential phenotype of the Zac1-expressing cells during development, Dev Dyn 2005; 233: 667-79.
    • (2005) Dev Dyn , vol.233 , pp. 667-679
    • Valente, T.1    Junyent, F.2    Auladell, C.3
  • 86
    • 0034829924 scopus 로고    scopus 로고
    • Expression pattern of Zac1 mouse gene, a new zinc-finger protein that regulates apoptosis and cellular cycle arrest, in both adult brain and along development
    • Valente T, Auladell C. Expression pattern of Zac1 mouse gene, a new zinc-finger protein that regulates apoptosis and cellular cycle arrest, in both adult brain and along development, Mech Dev 2001; 108: 207-11.
    • (2001) Mech Dev , vol.108 , pp. 207-211
    • Valente, T.1    Auladell, C.2
  • 87
    • 33750470266 scopus 로고    scopus 로고
    • Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth
    • Varrault A, Gueydan C, Delalbre A, et al. Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth, Dev Cell 202006; 11: 711-22.
    • Dev Cell 202006 , vol.11 , pp. 711-722
    • Varrault, A.1    Gueydan, C.2    Delalbre, A.3
  • 88
    • 4043117827 scopus 로고    scopus 로고
    • Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM
    • Ma D, Shield JP, Dean W, et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM, J Clin Invest 2004; 114: 339-48.
    • (2004) J Clin Invest , vol.114 , pp. 339-348
    • Ma, D.1    Shield, J.P.2    Dean, W.3
  • 89
    • 0035394667 scopus 로고    scopus 로고
    • A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus
    • Arima T, Drewell RA, Arney KL, et al. A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus, Hum Mol Genet 2001; 10: 1475-83.
    • (2001) Hum Mol Genet , vol.10 , pp. 1475-1483
    • Arima, T.1    Drewell, R.A.2    Arney, K.L.3
  • 90
    • 33846431266 scopus 로고    scopus 로고
    • Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: New hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region
    • Diatloff-Zito C, Nicole A, Marcelin G, et al. Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region, J Med Genet 2007; 44: 31-7.
    • (2007) J Med Genet , vol.44 , pp. 31-37
    • Diatloff-Zito, C.1    Nicole, A.2    Marcelin, G.3
  • 91
    • 0034253796 scopus 로고    scopus 로고
    • A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC
    • Arima T, Drewell RA, Oshimura M, Wake N, Surani MA. A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC, Genomics 20 2000; 67: 248-55.
    • (2000) Genomics , vol.20 , Issue.67 , pp. 248-255
    • Arima, T.1    Drewell, R.A.2    Oshimura, M.3    Wake, N.4    Surani, M.A.5
  • 92
    • 0036918736 scopus 로고    scopus 로고
    • Transient neonatal diabetes, a disorder of imprinting
    • Temple IK, Shield JP. Transient neonatal diabetes, a disorder of imprinting, J Med Genet 2002; 39: 872-5.
    • (2002) J Med Genet , vol.39 , pp. 872-875
    • Temple, I.K.1    Shield, J.P.2
  • 93
    • 0031440218 scopus 로고    scopus 로고
    • Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin
    • Arthur EI, Zlotogora J, Lerer I, et al. Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin, Eur J Hum Genet 1997; 5: 417-9.
    • (1997) Eur J Hum Genet , vol.5 , pp. 417-419
    • Arthur, E.I.1    Zlotogora, J.2    Lerer, I.3
  • 94
    • 0029794055 scopus 로고    scopus 로고
    • Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23
    • Temple IK, Gardner RJ, Robinson DO, et al. Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23, Hum Mol Genet 1996; 5: 1117-21.
    • (1996) Hum Mol Genet , vol.5 , pp. 1117-1121
    • Temple, I.K.1    Gardner, R.J.2    Robinson, D.O.3
  • 95
    • 0032912699 scopus 로고    scopus 로고
    • Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
    • Christian SL, Rich BH, Loebl C, et al. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus, J Pediatr 1999; 134: 42-6.
    • (1999) J Pediatr , vol.134 , pp. 42-46
    • Christian, S.L.1    Rich, B.H.2    Loebl, C.3
  • 96
    • 0033652302 scopus 로고    scopus 로고
    • Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
    • Das S, Lese CM, Song M, et al. Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities, Am J Hum Genet 2000; 67: 1586-91.
    • (2000) Am J Hum Genet , vol.67 , pp. 1586-1591
    • Das, S.1    Lese, C.M.2    Song, M.3
  • 97
    • 34347387276 scopus 로고    scopus 로고
    • Mutations in ATPsensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
    • Flanagan SE, Patch AM, Mackay DJ, et al. Mutations in ATPsensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood, Diabetes 2007; 56: 1930-7.
    • (2007) Diabetes , vol.56 , pp. 1930-1937
    • Flanagan, S.E.1    Patch, A.M.2    Mackay, D.J.3
  • 98
    • 14044272246 scopus 로고    scopus 로고
    • Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology
    • Mackay DJ, Temple IK, Shield JP, Robinson DO. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology, Hum Genet 2005; 116: 255-61.
    • (2005) Hum Genet , vol.116 , pp. 255-261
    • Mackay, D.J.1    Temple, I.K.2    Shield, J.P.3    Robinson, D.O.4
  • 99
    • 39049093762 scopus 로고    scopus 로고
    • Regulation of imprinting in clusters: Noncoding RNAs versus insulators
    • Wan LB, Bartolomei MS. Regulation of imprinting in clusters: noncoding RNAs versus insulators, Adv Genet 2008; 61: 207-23.
    • (2008) Adv Genet , vol.61 , pp. 207-223
    • Wan, L.B.1    Bartolomei, M.S.2
  • 101
    • 0034726689 scopus 로고    scopus 로고
    • Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
    • Sutton VR, Shaffer LG. Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion, Am J Med Genet 2000; 93: 381-7.
    • (2000) Am J Med Genet , vol.93 , pp. 381-387
    • Sutton, V.R.1    Shaffer, L.G.2
  • 103
    • 84865224464 scopus 로고    scopus 로고
    • Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype
    • Kagami M, Kato F, Matsubara K, et al. Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype, Eur J Hum Genet 2012.
    • (2012) Eur J Hum Genet
    • Kagami, M.1    Kato, F.2    Matsubara, K.3
  • 104
    • 35348901901 scopus 로고    scopus 로고
    • Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14
    • Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14, J Med Genet 202007; 44: 637-40.
    • J Med Genet 202007 , vol.44 , pp. 637-640
    • Temple, I.K.1    Shrubb, V.2    Lever, M.3    Bullman, H.4    Mackay, D.J.5
  • 105
    • 38649135702 scopus 로고    scopus 로고
    • 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, et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes, Nat Genet 2008; 40: 237-42.
    • (2008) Nat Genet , vol.40 , pp. 237-242
    • Kagami, M.1    Sekita, Y.2    Nishimura, G.3
  • 106
    • 51549093979 scopus 로고    scopus 로고
    • Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
    • Buiting K, Kanber D, Martin-Subero JI, et al. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster, Hum Mutat 2008; 29: 1141-6.
    • (2008) Hum Mutat , vol.29 , pp. 1141-1146
    • Buiting, K.1    Kanber, D.2    Martin-Subero, J.I.3
  • 107
    • 48349145174 scopus 로고    scopus 로고
    • Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
    • Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype, Eur J Hum Genet 2008; 16: 1019-23.
    • (2008) Eur J Hum Genet , vol.16 , pp. 1019-1023
    • Hosoki, K.1    Ogata, T.2    Kagami, M.3    Tanaka, T.4    Saitoh, S.5
  • 108
    • 60549099968 scopus 로고    scopus 로고
    • Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype
    • Zechner U, Kohlschmidt N, Rittner G, et al. Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype, Clin Genet 2009; 75: 251-8.
    • (2009) Clin Genet , vol.75 , pp. 251-258
    • Zechner, U.1    Kohlschmidt, N.2    Rittner, G.3
  • 109
    • 49449111926 scopus 로고    scopus 로고
    • Mechanisms of imprinting of the Prader-Willi/Angelman region
    • Horsthemke B, Wagstaff J. Mechanisms of imprinting of the Prader-Willi/Angelman region, Am J Med Genet A 2008; 146A: 2041-52.
    • (2008) Am J Med Genet A , vol.146 A , pp. 2041-2052
    • Horsthemke, B.1    Wagstaff, J.2
  • 110
    • 0035003096 scopus 로고    scopus 로고
    • Disruption of the bipartite imprinting center in a family with Angelman syndrome
    • Buiting K, Barnicoat A, Lich C, et al. Disruption of the bipartite imprinting center in a family with Angelman syndrome, Am J Hum Genet 2001; 68: 1290-4.
    • (2001) Am J Hum Genet , vol.68 , pp. 1290-1294
    • Buiting, K.1    Barnicoat, A.2    Lich, C.3
  • 111
    • 0000927260 scopus 로고
    • Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter, Schweiz
    • Prader A., Labhart A., Willi H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter, Schweiz. Med. Wschr 1956, 86, 1260-1261.
    • (1956) Med. Wschr , vol.86 , pp. 1260-1261
    • Prader, A.1    Labhart, A.2    Willi, H.3
  • 112
  • 113
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome, Nat Genet 1997, 15, 70-3.
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 114
    • 78951484721 scopus 로고    scopus 로고
    • Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
    • Maupetit-Mehouas S, Mariot V, Reynes C, et al. Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib, J Med Genet 2011; 48: 55-63.
    • (2011) J Med Genet , vol.48 , pp. 55-63
    • Maupetit-Mehouas, S.1    Mariot, V.2    Reynes, C.3
  • 115
    • 0036753290 scopus 로고    scopus 로고
    • DNA methylation: A profile of methods and applications
    • Fraga MF, Esteller M. DNA methylation: a profile of methods and applications, Biotechniques 2002; 33: 632, 634, 636-49.
    • (2002) Biotechniques , vol.33
    • Fraga, M.F.1    Esteller, M.2
  • 116
    • 70450162112 scopus 로고    scopus 로고
    • 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, et al. 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 2009; 18: 4724-33.
    • (2009) Hum Mol Genet , vol.18 , pp. 4724-4733
    • Azzi, S.1    Rossignol, S.2    Steunou, V.3
  • 117
    • 77954664046 scopus 로고    scopus 로고
    • 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. Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases, Epigenetics 2010; 5: 373-7.
    • (2010) Epigenetics , vol.5 , pp. 373-377
    • Azzi, S.1    Rossignol, S.2    Le Bouc, Y.3    Netchine, I.4
  • 118
    • 33746972820 scopus 로고    scopus 로고
    • A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
    • Mackay DJ, Boonen SE, Clayton-Smith J, et al. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus, Hum Genet 2006; 120: 262-9.
    • (2006) Hum Genet , vol.120 , pp. 262-269
    • Mackay, D.J.1    Boonen, S.E.2    Clayton-Smith, J.3
  • 119
    • 67349253397 scopus 로고    scopus 로고
    • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
    • Bliek J, Verde G, Callaway J, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome, Eur J Hum Genet 2009; 17: 611-9.
    • (2009) Eur J Hum Genet , vol.17 , pp. 611-619
    • Bliek, J.1    Verde, G.2    Callaway, J.3
  • 120
    • 63449130373 scopus 로고    scopus 로고
    • Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)
    • Meyer E, Lim D, Pasha S, et al. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome), PLoS Genet 2009; 5: e1000423.
    • (2009) PLoS Genet , vol.5
    • Meyer, E.1    Lim, D.2    Pasha, S.3
  • 122
    • 84860570025 scopus 로고    scopus 로고
    • Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci
    • Begemann M, Leisten I, Soellner L, et al. Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci, Epigenetics 2012; 7: 473-81.
    • (2012) Epigenetics , vol.7 , pp. 473-481
    • Begemann, M.1    Leisten, I.2    Soellner, L.3
  • 123
    • 84858283030 scopus 로고    scopus 로고
    • 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. Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome, Clin Genet 202012; 81, 366-77.
    • Clin Genet 202012 , vol.81 , pp. 366-377
    • Kannenberg, K.1    Urban, C.2    Binder, G.3
  • 124
    • 77952671659 scopus 로고    scopus 로고
    • Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci
    • Turner CL, Mackay DM, Callaway JL, et al. Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci, Eur J Hum Genet 2010; 18: 648-55.
    • (2010) Eur J Hum Genet , vol.18 , pp. 648-655
    • Turner, C.L.1    Mackay, D.M.2    Callaway, J.L.3
  • 125
    • 84861990687 scopus 로고    scopus 로고
    • Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus
    • Perez-Nanclares G, Romanelli V, Mayo S, et al. Detection of Hypomethylation Syndrome among Patients with Epigenetic Alterations at the GNAS Locus, J Clin Endocrinol Metab 2012; 97: E1060-E1067.
    • (2012) J Clin Endocrinol Metab , vol.97
    • Perez-Nanclares, G.1    Romanelli, V.2    Mayo, S.3
  • 126
    • 0037168587 scopus 로고    scopus 로고
    • The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a
    • Chedin F, Lieber MR, Hsieh CL. The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a, Proc Natl Acad Sci U S A 2002; 99: 16916-21.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 16916-16921
    • Chedin, F.1    Lieber, M.R.2    Hsieh, C.L.3
  • 127
    • 0036333103 scopus 로고    scopus 로고
    • Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice
    • Hata K, Okano M, Lei H, Li E. Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice, Development 2002; 129: 1983-93.
    • (2002) Development , vol.129 , pp. 1983-1993
    • Hata, K.1    Okano, M.2    Lei, H.3    Li, E.4
  • 128
    • 0026708177 scopus 로고
    • Targeted mutation of the DNA methyltransferase gene results in embryonic lethality
    • Li E, Bestor TH, Jaenisch R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality, Cell 1992, 69: 915-26.
    • (1992) Cell , vol.69 , pp. 915-926
    • Li, E.1    Bestor, T.H.2    Jaenisch, R.3
  • 129
    • 77950523023 scopus 로고    scopus 로고
    • Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
    • Demars J, Shmela ME, Rossignol S, et al. Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders, Hum Mol Genet 2010; 19: 803-14.
    • (2010) Hum Mol Genet , vol.19 , pp. 803-814
    • Demars, J.1    Shmela, M.E.2    Rossignol, S.3
  • 130
    • 80052965152 scopus 로고    scopus 로고
    • New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects
    • Demars J, Rossignol S, Netchine I, et al. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects, Hum Mutat 202011; 32, 1171-82.
    • Hum Mutat 202011 , vol.32 , pp. 1171-1182
    • Demars, J.1    Rossignol, S.2    Netchine, I.3
  • 131
    • 84855812755 scopus 로고    scopus 로고
    • Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCTbinding motif in the IGF2/H19-imprinting control region, ICR1
    • Poole RL, Leith DJ, Docherty LE, et al. Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCTbinding motif in the IGF2/H19-imprinting control region, ICR1, Eur J Hum Genet 2011; 20: 240-3.
    • (2011) Eur J Hum Genet , vol.20 , pp. 240-243
    • Poole, R.L.1    Leith, D.J.2    Docherty, L.E.3
  • 132
    • 80053952320 scopus 로고    scopus 로고
    • CTCF function is modulated by neighboring DNA binding factors
    • Weth O, Renkawitz R. CTCF function is modulated by neighboring DNA binding factors, Biochem Cell Biol 2011; 89: 459-68.
    • (2011) Biochem Cell Biol , vol.89 , pp. 459-468
    • Weth, O.1    Renkawitz, R.2
  • 133
    • 33144488275 scopus 로고    scopus 로고
    • Post-weaning diet affects genomic imprinting at the insulin-like growth factor 2 (Igf2) locus
    • Waterland RA, Lin JR, Smith CA, Jirtle RL. Post-weaning diet affects genomic imprinting at the insulin-like growth factor 2 (Igf2) locus, Hum Mol Genet 2006; 15: 705-16.
    • (2006) Hum Mol Genet , vol.15 , pp. 705-716
    • Waterland, R.A.1    Lin, J.R.2    Smith, C.A.3    Jirtle, R.L.4
  • 134
    • 55949137722 scopus 로고    scopus 로고
    • Persistent epigenetic differences associated with prenatal exposure to famine in humans
    • Heijmans BT, Tobi EW, Stein AD, et al. Persistent epigenetic differences associated with prenatal exposure to famine in humans, Proc Natl Acad Sci U S A 2008; 105: 17046-9.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 17046-17049
    • Heijmans, B.T.1    Tobi, E.W.2    Stein, A.D.3
  • 135
    • 0038663165 scopus 로고    scopus 로고
    • Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia
    • Ingrosso D, Cimmino A, Perna AF, et al. Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomocysteinaemia in patients with uraemia, Lancet 2003; 361: 1693-9.
    • (2003) Lancet , vol.361 , pp. 1693-1699
    • Ingrosso, D.1    Cimmino, A.2    Perna, A.F.3
  • 136
    • 23044514669 scopus 로고    scopus 로고
    • Epigenetic differences arise during the lifetime of monozygotic twins
    • Fraga MF, Ballestar E, Paz MF, et al. Epigenetic differences arise during the lifetime of monozygotic twins, Proc Natl Acad Sci U S A 2005; 102: 10604-9.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 10604-10609
    • Fraga, M.F.1    Ballestar, E.2    Paz, M.F.3
  • 137
    • 65949100147 scopus 로고    scopus 로고
    • Not really identical: Epigenetic differences in monozygotic twins and implications for twin studies in psychiatry
    • Haque FN, Gottesman II; Wong AH. Not really identical: epigenetic differences in monozygotic twins and implications for twin studies in psychiatry, Am J Med Genet C Semin Med Genet 2009; 151C: 136-41.
    • (2009) Am J Med Genet C Semin Med Genet , vol.151 C , pp. 136-141
    • Haque, F.N.1    Gottesman, I.I.2    Wong, A.H.3
  • 138
    • 59249107052 scopus 로고    scopus 로고
    • DNA methylation profiles in monozygotic and dizygotic twins
    • Kaminsky ZA, Tang T, Wang SC, et al. DNA methylation profiles in monozygotic and dizygotic twins, Nat Genet 2009; 41: 240-5.
    • (2009) Nat Genet , vol.41 , pp. 240-245
    • Kaminsky, Z.A.1    Tang, T.2    Wang, S.C.3
  • 139
    • 34249035861 scopus 로고    scopus 로고
    • Environmental effects on gene expression phenotype have regional biases in the human genome
    • Choi JK, Kim SC. Environmental effects on gene expression phenotype have regional biases in the human genome, Genetics 2007; 175: 1607-13.
    • (2007) Genetics , vol.175 , pp. 1607-1613
    • Choi, J.K.1    Kim, S.C.2
  • 140
    • 21244465079 scopus 로고    scopus 로고
    • Assessing natural variations in gene expression in humans by comparing with monozygotic twins using microarrays
    • Sharma A, Sharma VK, Horn-Saban S, et al. Assessing natural variations in gene expression in humans by comparing with monozygotic twins using microarrays, Physiol Genomics 2005; 21: 117-23.
    • (2005) Physiol Genomics , vol.21 , pp. 117-123
    • Sharma, A.1    Sharma, V.K.2    Horn-Saban, S.3
  • 141
    • 0038644577 scopus 로고    scopus 로고
    • In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene
    • Gicquel C, Gaston V, Mandelbaum J, et al. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene, Am J Hum Genet 2003; 72: 1338-41.
    • (2003) Am J Hum Genet , vol.72 , pp. 1338-1341
    • Gicquel, C.1    Gaston, V.2    Mandelbaum, J.3
  • 142
    • 56749132176 scopus 로고    scopus 로고
    • A review of known imprinting syndromes and their association with assisted reproduction technologies
    • Amor DJ, Halliday J. A review of known imprinting syndromes and their association with assisted reproduction technologies, Hum Reprod 2008; 23: 2826-34.
    • (2008) Hum Reprod , vol.23 , pp. 2826-2834
    • Amor, D.J.1    Halliday, J.2
  • 143
    • 84860289187 scopus 로고    scopus 로고
    • Role of ART in imprinting disorders
    • Eroglu A, Layman LC. Role of ART in imprinting disorders, Semin Reprod Med 2012; 30: 92-104.
    • (2012) Semin Reprod Med , vol.30 , pp. 92-104
    • Eroglu, A.1    Layman, L.C.2
  • 144
    • 70450252294 scopus 로고    scopus 로고
    • DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm
    • Kobayashi H, Hiura, H, John RM, et al. DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm, Eur J Hum Genet 2009; 17: 1582-91.
    • (2009) Eur J Hum Genet , vol.17 , pp. 1582-1591
    • Kobayashi, H.1    Hiura, H.2    John, R.M.3


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