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The Genetics of the Silver-Russell Syndrome

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References

  1. Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953;12:368–376.

    Google Scholar 

  2. Al-Awadi SA, Al-Mazidi Z, Al-Ghanim M, Sabry MA, et al. Silver-Russell syndrome in Bedouin sibs: Autosomal recessive inheritance confirmed. Hum Genet 59(supplement), A94. 1996. Ref Type: Abstract

    Google Scholar 

  3. Partington MW. X-linked short stature with skin pigmentation: Evidence for heterogeneity of the Russell-Silver syndrome 2. Clin Genet 1986;29(2):151–156.

    Google Scholar 

  4. Al-Fifi S, Teebi AS, Shevell M. Autosomal dominant Russell-Silver syndrome. Am J Med Genet 1996;61:96–97.

    Google Scholar 

  5. Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE. An analysis of the distribution of hetero-and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet 1999;36:457–460.

    Google Scholar 

  6. Sagot P, David A, Talmant C, Pascal O, Winer N, Boog G. Russell-Silver syndrome: An explanation for discordant growth in monozygotic twins 3. Fetal Diagn Ther 1996;11(1):72–78.

    Google Scholar 

  7. Chauvel PJ, Moore CM, Haslam RHA. Trisomy-18 mosaicism with features of Russell-Silver syndrome. Dev Med Child Neurol 1975;17:220–224.

    Google Scholar 

  8. Hook EB, Yunis JJ. Congenital asymmetry associated with trisomy 18 mosaicism 1. Am J Dis Child 1965;110(5):551–555.

    Google Scholar 

  9. Claveau JC, Genest P, Mortezai MA. [Trisomy 18: A case of mosaicism] 45. Laval Med 1967;38(9):815–819.

    Google Scholar 

  10. Pavone L, Zellweger H, 1978;67:101–103.

  11. Schinzel AA, Robinson WP, Binkert F, Fanconi A. An interstitial deletion of proximal 8q (q11–q13) in a girl with Silver-Russell syndrome-like features 17. Clin Dysmorphol 1994;3(1):63–69.

    Google Scholar 

  12. Wilson GN, Sauder SE, Bush M, Beitins IZ. Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. J Med Genet 1985;22:233–236.

    Google Scholar 

  13. Tamura T, Tohma T, Ohta T, Soejima H, Harada N, Abe K, Niikawa N. Ring chromosome 15 involving deletion of the insulinlike growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clin Dysmorphol 1993;2:106–113.

    Google Scholar 

  14. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA, III. Two patients with ring chromosome 15 syndrome 1. Am J Med Genet 1988;29(1):149–154.

    Google Scholar 

  15. Roback EW, Barakat AJ, Dev VG, Mbikay M, Chrétien M, Butler MG. An infant with deletion of the distal long arm of chromosome 15 (q26.1–>qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 1991;38:74–79.

    Google Scholar 

  16. Peoples R, Milatovich A, Francke U. Hemizygosity at the insulinlike growth factor I receptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome 2. Cytogenet Cell Genet 1995;70(3/4):228–234.

    Google Scholar 

  17. Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 1996;62(1):10–15.

    Google Scholar 

  18. Milner RD, Hill DJ. Fetal growth control: The role of insulin and related peptides 27. Clin Endocrinol (Oxf) 1984;21(4):415–433.

    Google Scholar 

  19. Jones JI, Clemmons DR. Insulin-like growth factors and their binding proteins: Biological actions. Endocr Rev 1995;16(1):3–34.

    Google Scholar 

  20. Abu-Amero S, Price SM, Wakeling EL, Stanier P, Trembath RC, Preece MA, Moore GE. Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver-Russell syndrome probands and their families. Eur J Hum Genet 1997;5:235–241.

    Google Scholar 

  21. Ramirez Dueñas ML, Medina C, Ocampo Campos R, Rivera H. Severe Silver-Russell syndrome and translocation (17;20)(q25;q13). Clin Genet 1992;41:51–53.

    Google Scholar 

  22. Midro AT, Debek K, Sawicka A, Marcinkiewicz D, Rogowska M. Second observation of Silver-Russell syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. Clin Genet 1993;44.

  23. Dorr S, Midro AT, Farber C, Giannakudis J, Hansmann I. Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23–q24 6. Genomics 2001;71(2):174–181.

    Google Scholar 

  24. Daly RJ. The Grb7 family of signalling proteins 5. Cell Signal 1998;10(9):613–618.

    Google Scholar 

  25. Skolnik EY, Batzer A, Li N, Lee CH, Lowenstein E, Mohammadi M, Margolis B, Schlessinger J. The function of GRB2 in linking the insulin receptor to Ras signaling pathways 5. Science 1993;260(5116):1953–1955.

    Google Scholar 

  26. Hitchins MP, Abu-Amero S, Apostolidou S, Monk D, Stanier P, Preece MA, Moore GE. Investigation of the GRB2, GRB7 and CSH1 genes as candidates for the Silver-Russell syndrome (SRS) on chromosome 17q. J Med Genet 2002;39:e13.

    Google Scholar 

  27. Eggermann T, Kloos P, Mergenthaler S, Eggermann K, Dobos M, Ranke M, Wollmann H. IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome. Clin Genet 2001;59(5):371–373.

    Google Scholar 

  28. Barsh GS, Seeburg PH, Gelinas RE. The human growth hormone gene family: structure and evolution of the chromosomal locus 1. Nucleic Acids Res 1983;11(12):3939–3958.

    Google Scholar 

  29. Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke MB, Wollmann HA. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. J Med Genet 1998;35(9):784–786.

    Google Scholar 

  30. Handwerger S. Clinical counterpoint: The physiology of placental lactogen in human pregnancy 1. Endocr Rev 1991;12(4):329–336.

    Google Scholar 

  31. Wurzel JM, Parks JS, Herd JE, Nielsen PV. A gene deletion is responsible for absence of human chorionic somatomammotropin 2. DNA 1982;1(3):251–257.

    Google Scholar 

  32. Simon P, Decoster C, Brocas H, Schwers J, Vassart G. Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion 8. HumGenet 1986;74(3):235–238.

    Google Scholar 

  33. Engel E. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980;6:137–143.

    Google Scholar 

  34. Kalousek DK, Langlois S, Robinson WP, Telenius A, Bernard L, Barrett IJ, Howard Peebles PN, Wilson RD. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 1996;65(4):348–352.

    Google Scholar 

  35. Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade MF, Landrieu P, Junien C. Somatic mosaicism for partial paternal isodisomy inWiedemann-Beckwith syndrome: A post-fertilization event 6. Eur J Hum Genet 1993;1(1):19–29.

    Google Scholar 

  36. Dutly F, Baumer A, Kayserili H, Yuksel-Apak M, Zerova T, Hebisch G, Schinzel A. Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11 2. Am J Med Genet 1998;79(5):347–353.

    Google Scholar 

  37. Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N. 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13–q11 region. J Med Genet 1999;36:326–329.

    Google Scholar 

  38. Morison IM, Reeve AE. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet 1999;7:1599–1609.

    Google Scholar 

  39. Cattanach BM, Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature 1985;315:496–498.

    Google Scholar 

  40. Bernard LE, Penaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP. Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: Comparison with non-UPD7 cases 3. AmJ Med Genet 1999;87(3):230–236.

    Google Scholar 

  41. Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. Maternal uniparental disomy 7–review and further delineation of the phenotype. Eur J Pediatr 2000;159(4):247–256.

    Google Scholar 

  42. Spence JE, Persiaccante RG, Greig GM, Huntington FW, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 1995;42:217–226.

    Google Scholar 

  43. Voss D, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J. Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 1989;45:373–380.

    Google Scholar 

  44. Spotila LD, Sereda L, Prockop DJ. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Hum Genet 1992;51:1396–1405.

    Google Scholar 

  45. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Méhes K, Hamel BCJ, Otten BJ, Hergersberg M, Werder E, Schoenle E, Schinzel A. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995;4(4):583–587.

    Google Scholar 

  46. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 1995;32:871–875.

    Google Scholar 

  47. Preece MA, Price SM, DaviesV, Clough L, Stanier P, Trembath RC, Moore GE. Maternal uniparental disomy 7 in the Silver-Russell syndrome. J Med Genet 1997;34(1):6–9.

    Google Scholar 

  48. Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy. Hum Genet 1997;100(3/4):415–419.

    Google Scholar 

  49. Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L. Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression. Clin Dysmorph 2000;9:157–162.

    Google Scholar 

  50. Hehr U, Dorr S, Hagemann M, Hansmann I, Preiss U, Bromme S. Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7 [letter]. Am J Med Genet 2000;91(3):237–239.

    Google Scholar 

  51. Ayala-Madrigal ML, Shaffer LG, Ramirez-Dueñas ML. Silver-Russell syndrome and exclusion of uniparental disomy. Clin Genet 1996;50:494–497.

    Google Scholar 

  52. Kotzot D, Lurie IW, Mehes K, Werder E, Schinzel A. No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation 12. Clin Genet 2000;58(3):177–180.

    Google Scholar 

  53. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? 2. J Med Genet 2001;38(4):273–278.

    Google Scholar 

  54. Hoglund P, Holmberg C, de la CA, Kere J. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 1994;55(4):747–752.

    Google Scholar 

  55. Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 1998;62(6):1551–1555.

    Google Scholar 

  56. 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;105:273–280.

    Google Scholar 

  57. Monk D, Wakeling EL, Proud V, Hitchins MP, Abu-Amero SN, Stanier P, Preece MA, Moore GE. Duplication of 7p11.2–p13, including GRB10, in Silver-Russell syndrome. Am J Hum Genet 2000;66:36–46.

    Google Scholar 

  58. Cattanach BM, Shibata H, Hayashizaki Y, Townsend KM, Ball S, Beechey CV. Association of a redefined proximal mouse chromosome 11 imprinting region and U2afbp-rs/U2af1–rs1 expression. Cytogenet Cell Genet 1998;80(1–4):41–47.

    Google Scholar 

  59. Wakeling EL, Abu-Amero S, Stanier P, Preece MA, Moore GE. Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. Eur J Hum Genet 1998;6:158–164.

    Google Scholar 

  60. Eggermann K, Wollmann HA, Binder G, Kaiser P, Ranke MB, Eggermann T. Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. Ann Genet 1999;42(2):117–121.

    Google Scholar 

  61. Wakeling EL, Hitchins MP, Abu-Amero SN, Stanier P, Moore GE, Preece MA. Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome. J Med Genet 2000;37:65–67.

    Google Scholar 

  62. Eggermann K, Wollmann HA, Tomiuk J, Ranke MB, Kaiser P, Eggermann T. Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients. Hum Hered 1999;49(3):123–128.

    Google Scholar 

  63. Liu F, Roth RA. Grb-IR: A SH2–domain-containing protein that binds to the insulin receptor and inhibits its function 1. Proc Natl Acad Sci USA 1995;92(22):10287–10291.

    Google Scholar 

  64. O'Neill TJ, Rose DW, Pillay TS, Hotta K, Olefsky JM, Gustafson TA. Interaction of a GRB-IR splice variant (a human GRB10 homolog) with the insulin and insulin-like growth factor I receptors. Evidence for a role in mitogenic signaling 3. J Biol Chem 1996;271(37):22506–22513.

    Google Scholar 

  65. Frantz JD, Giorgetti-Peraldi S, Ottinger EA, Shoelson SE. Human GRB-IRbeta/GRB10. Splice variants of an insulin and growth factor receptor-binding protein with PH and SH2 domains 4. J Biol Chem 1997;272(5):2659–2667.

    Google Scholar 

  66. Miyoshi N, Kuroiwa Y, Kohda T, Shitara H, Yonekawa H, Kawabe T, Hasegawa H, Barton SC, Surani MA, Kaneko Ishino T, Ishino F. Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc Natl Acad Sci USA 1998;95(3):1102–1107.

    Google Scholar 

  67. Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly ti. Hum Mol Genet 2000;9(11):1587–1595.

    Google Scholar 

  68. Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, Moore GE. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. European Journal of Human Genetics 2001;9:82–90.

    Google Scholar 

  69. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet 2000;67(2):476–482.

    Google Scholar 

  70. Mergenthaler S, Hitchins MP, Blagitko-Dorfs N, Monk D, Wollmann HA, Ranke MB, Ropers HH, Apostolidou S, Stanier P, Preece MA, Eggermann T, Kalscheuer VM, Moore GE. Conflicting reports of imprinting status of human GRB10 in developing brain: How reliable are somatic cell hybrids for predicting allelic origin of expression? Am J Hum Genet 2001;68(2):543–545.

    Google Scholar 

  71. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata A, Matsuo N, Smith RJ, Kosaki K. Reply to Mergenthaler, et al. Am J Hum Genet 2001;68:544–545.

    Google Scholar 

  72. Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE, Preece MA. Silver-Russell syndrome and ring chromosome 7 [letter; comment]. J Med Genet 2000;37(5):380.

    Google Scholar 

  73. Monk D, Hitchins MP, Russo S, Preece MA, Stanier P, Moore GE. No evidence for mosaicism in Silver Russell syndrome. J Med Genet 2001;38:e11.

    Google Scholar 

  74. Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ. Uniparental disomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 1996;55:253–265.

    Google Scholar 

  75. 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;68:247–253.

    Google Scholar 

  76. Beechey CV. Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth 1. Cytogenet Cell Genet 2000;90(3/4):309–314.

    Google Scholar 

  77. Kaneko-Ishino T, Kuroiwa Y, Miyoshi N, Kohda T, Suzuki R, Yokoyama M, Viville S, Barton SC, Ishino F, Surani MA. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nat Genet 1995;11:52–59.

    Google Scholar 

  78. Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM. gamma2–COP, a novel imprinted gene on chromosome 7q32, de-fines a new imprinting cluster in the human genome. Hum Mol Genet 1999;8(13):2387–2396.

    Google Scholar 

  79. Lee YJ, Park CW, Hahn Y, Park J, Lee J, Yun JH, Hyun B, Chung JH. Mit1/Lb9 and Copg2, new members of mouse imprinted genes closely linked to Peg1/Mest(1) 10. FEBS Lett 2000;472(2/3):230–234.

    Google Scholar 

  80. Lefebvre L, Viville S, Barton SC, Ishino F, Keverne EB, Surani MA. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest 1. Nat Genet 1998;20(2):163–169.

    Google Scholar 

  81. Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BC, Ropers HH, Kalscheuer VM. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur J Hum Genet 1998;6(2):114–120.

    Google Scholar 

  82. Nishita Y, Yoshida I, Sado T, Takagi N. Genomic imprinting and chromosomal localization of the human MEST gene. Genomics 1996;36:539–542.

    Google Scholar 

  83. Kobayashi S, Kohda T, Miyoshi N, Kuroiwa Y, Aisaka K, Tsutsumi O, Kaneko-Ishino T, Ishino F. Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 1997;6(5):781–786.

    Google Scholar 

  84. Riesewijk AM, Hu L, Schulz U, Tariverdian G, Hoglund P, Kere J, Ropers H, Kalscheuer VM. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses. Genomics 1997;42:236–244.

    Google Scholar 

  85. Kosaki K, Kosaki R, Craigen WJ, Matsuo N. Isoform-specific imprinting of the human PEG1/MEST gene. Am J Hum Genet 2000;66:309–312.

    Google Scholar 

  86. Yamasaki K, Hayashida S, Miura K, Masuzaki H, Ishimaru T, Niikawa N, Kishino T. The novel gene, gamma2–COP (COPG2), in the 7q32 imprinted domain escapes genomic imprinting 1. Genomics 2000;68(3):330–335.

    Google Scholar 

  87. Hayashida S, Yamasaki K, Asada Y, Soeda E, Niikawa N, Kishino T. Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32 2. Genomics 2000;66(2):221–225.

    Google Scholar 

  88. Piras G, El Kharroubi A, Kozlov S, Escalante-Alcalde D, Hernandez L, Copeland NG, Gilbert DJ, Jenkins NA, Stewart CL. Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: Identification by a subtractive screen of novel uniparental fibroblast lines 2. Mol Cell Biol 2000;20(9):3308–3315.

    Google Scholar 

  89. McNally EM, Ly CT, Kunkel LM. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene 5. FEBS Lett 1998;422(1):27–32.

    Google Scholar 

  90. Ono R, Kobayashi S, Wagatsuma H, Aisaka K, Kohda T, Kaneko-Ishino T, Ishino F. A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21 1. Genomics 2001;73(2):232–237.

    Google Scholar 

  91. Hitchins M, Stanier P, Preece MA, Moore GE. Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 2001;38:810–819. 99._ Monk D, Bentley L, Hitchins MP, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. Chromosome 7p disruptions in Silver-Russell syndrome: Delineating an imprinted candidate gene region. Hum Genet 2002 (in press).

    Google Scholar 

  92. Hitchins MP, Bentley L, Monk D, Beechey C, Peters J, Kelsey G, Ishino F, Preece MA, Stanier P, Moore GE. DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. tiMamm Genome 2002 (in press).

  93. Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece MA, Weksberg R, Oshimura M, Moore GE, Scherer S. Identification and characterization of an imprinted anisense RNA (MESTIT1) in the human MESTlocus on chromosome 7q32. Hum Mol Genet 2002;11:1743–1756.

    Google Scholar 

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Preece, M.A. The Genetics of the Silver-Russell Syndrome . Rev Endocr Metab Disord 3, 369–379 (2002). https://doi.org/10.1023/A:1020961909991

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